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Optic Atrophy in Children

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Abstract

Optic atrophy is a morphologic sequel to a multitude of anterior visual pathway insults that culminate in the loss of retinal ganglion cell axons. Histopathologically, it is characterized by a variable reduction of nerve diameter with loss of axons and little or no gliosis. Ophthalmoscopically, the disc retains its normal size and shows diffuse or segmental pallor. The pallor in optic atrophy has been attributed to thinning of the neural tissue of the optic disc and resulting changes in cytoarchitecture and decreased transmission of light, rather than to loss of optic disc capillaries or astrocytic proliferation. The ophthalmoscopic appearance of the atrophic disc alone occasionally suggests a specific mechanism of injury.

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References

  1. Abdel-Salam GM, Shehab M, Zaki MS. Isolated Dandy–Walker malformation associated with brain stem dysgenesis in male sibs. Brain Dev. 2006;28:529–533.

    PubMed  Google Scholar 

  2. Abe T, Abe K, Aoki M, et al. Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type I gene. Arch Ophthalmol. 1997;115:231–236.

    CAS  PubMed  Google Scholar 

  3. Abrams LS, Repka MX. Visual outcome of craniopharyngioma in children. J Pediatr Ophthalmol Strabis. 1997;34:223–228.

    CAS  Google Scholar 

  4. Abramson DH, Frank CM, Dunkel IJ. A phase I/II study of subconjunctival carboplatin for intraocular retinoblastoma. Ophthalmology. 1999;106:1947–1950.

    CAS  PubMed  Google Scholar 

  5. Abu-Amero KK, Bosely TM. Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Invest Ophthalmol Vis Sci. 2006;47:4211–4220.

    PubMed  Google Scholar 

  6. Abu-Serieh B, Ghassempour K, Duprez T, et al. Stereotactic ventriculoperitoneal shunting for refractory idiopathic intracranial hypertension. Neurosurgery. 2007;60:1039–1043.

    PubMed  Google Scholar 

  7. Acaroğlu G, Kansu T, Doğulu CF. Visual recovery patterns in children with Leber’s hereditary optic neuropathy. Int Ophthalmol. 2001;24:349–355.

    PubMed  Google Scholar 

  8. Adams RD, Victor M. Principles of Neurology. 4th ed. New York: McGraw-Hill; 1989:804.

    Google Scholar 

  9. Adegbehingbe BO, Majengbasan TO. Ocular health status of rural dwellers in South-Western Nigeria. Aust J Rural Health. 2007;15:269–272.

    PubMed  Google Scholar 

  10. Adeoti CO. Prevalence and causes of blindness in a tropical African population. West Afr J Med. 2004;23:249–252.

    PubMed  Google Scholar 

  11. Aicardi J, Castelein P. Infantile neuroaxonal dystrophy. Brain. 1979;102:727–748.

    CAS  PubMed  Google Scholar 

  12. Ajlouni K, Jarrah N, El-Khateeb M, et al. Wolfram syndrome: Identification of a phenotypic and genotypic variant from Jordan. Am J Med Genet. 2002;115:61–65.

    PubMed  Google Scholar 

  13. Al-Dirbashi OY, Rashed MS, Al-Qahtani K, et al. Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease. J Inherit Metab Dis. 2007;30:612.

    CAS  PubMed  Google Scholar 

  14. Al-Essa M, Bakheet S, Al-Shamsan L, et al. 18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: Clinical and MRI correlations. Brain Dev. 1999;21:24–29.

    CAS  PubMed  Google Scholar 

  15. Al-Essa M, Dhaunsi GS, Rashed M, et al. Zellweger syndrome in Saudi Arabia and its distinct features. Clin Pediatr. 1999;38:77–86.

    CAS  Google Scholar 

  16. Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Gent. 2000;26:207–210.

    Google Scholar 

  17. Alexander C, Votruba M, Pesch UE, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000;26:211–215.

    CAS  PubMed  Google Scholar 

  18. Allali F, Benomar A, Karim A, et al. Behçet’s disease in Moroccan children: A report of 12 cases. Scand J Rheumatol. 2004;33:362–363.

    CAS  PubMed  Google Scholar 

  19. Al-Merjan JI, Pandova MG, Al-Ghanim M, et al. Registered blindness and low vision in Kuwait. Ophthalmic Epidemiol. 2005;12:251–257.

    CAS  PubMed  Google Scholar 

  20. al-Sheyyab M, Jarrah N, Younis E, et al. Bleeding tendency in Wolfram syndrome: a newly identified feature with phenotype genotype correlation. Eur J Pediatr. 2001;160:243–246.

    CAS  PubMed  Google Scholar 

  21. Altarescu G, Sun M, Moore DF, et al. The neurogenetics of mucolipidosis type IV. Neurology. 2002;59:306–313.

    CAS  PubMed  Google Scholar 

  22. Al-Till M, Jarrah MS, Ajlouni KM. Ophthalmologic findings in 15 patients with Wolfram syndrome. Eur J Ophthalmol. 2002;12:84–88.

    CAS  PubMed  Google Scholar 

  23. Alvord EC, Lofton S. Gliomas of optic nerve or chiasm. J Neurosurg. 1988;68:85–98.

    PubMed  Google Scholar 

  24. Amati-Bonneau P, Valentino ML, Reynier P, et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy ‘plus’ phenotypes. Brain. 2008;131(Pt 2):338–351.

    PubMed  Google Scholar 

  25. Amemiya T, Honda A. A family with optic atrophy and congenital hearing loss. Ophthalmic Genet. 1994;15:87–93.

    CAS  PubMed  Google Scholar 

  26. Amitava AK, Alarm S, Hussain R. Neuro-ophthalmic features in pediatric tubercular meningoencephalitis. J Pediatr Ophthalmol Strabismus. 2001;38:229–234.

    CAS  PubMed  Google Scholar 

  27. Anderson NE, Sheffield S, Hope JK. Superficial siderosis of the central nervous system: A late complication of cerebellar tumors. Neurology. 1999;52:163–169.

    CAS  PubMed  Google Scholar 

  28. Andersson S, Hellström A. Abnormal optic disc and retinal vessels in children with surgically treated hydrocephalus. BJO. 2009;93(4):526–530.

    CAS  Google Scholar 

  29. Angelini L, Nardocci V, Rumi C, et al. Hallervor­den-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neurol. 1992;239:417–425.

    CAS  PubMed  Google Scholar 

  30. Anteby I, Cohen E, Anteby E, et al. Ocular manifestations in children born after in vitro fertilization. Arch Ophthalmol. 2001;119:1525–1529.

    CAS  PubMed  Google Scholar 

  31. Aras C, Ozdamar A, Karacorlu M, et al. Silicone oil in the surgical treatment of encophthalmitis associated with retinal detachment. Int Ophthalmol. 2001;24:147–150.

    CAS  PubMed  Google Scholar 

  32. Arts WF, Loonen MC, Sengers RC, et al. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol. 1993;33(5):535–539.

    CAS  PubMed  Google Scholar 

  33. Ashworth JL, Biswas S, Wraith E, et al. The ocular features of the mucopolysaccharidoses. Eye. 2006;20:553–563.

    CAS  PubMed  Google Scholar 

  34. Assink JJ, Tijmes NT, ten Brink JB, et al. A gene for X-linked optic atrophy is closely linked to the Xp11.2 region of the X chromosome. Am J Hum Genet. 1997;61:934–939.

    CAS  PubMed  Google Scholar 

  35. Astle WF, Papp A, Huang PT, et al. Refractive laser surgery in children with coexisting medical and ocular pathology. J Cataract Refract Surg. 2006;32:103–108.

    PubMed  Google Scholar 

  36. Atchaneeyasakul LO, Linck LM, Connor WE, et al. Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Optiz syndrome. Am J Med Genet. 1998;80:501–505.

    CAS  PubMed  Google Scholar 

  37. Atmaca LS, Simsek T, Batioglu F. Clinical features and prognosis in ocular toxoplasmosis. Jpn J Ophthalmol. 2004;48:386–391.

    PubMed  Google Scholar 

  38. Aung T, Okada K, Poinoosawmy D, et al. The phenotype of normal tension glaucoma patients with and without OPA1 polymorphisms. Br J Ophthalmol. 2003;87:49–152.

    Google Scholar 

  39. Awad AH, Mullaney PB, Al-Mesfer S, et al. Glaucoma in Sturge–Weber syndrome. J AAPOS. 1999;3:40–45.

    CAS  PubMed  Google Scholar 

  40. Aysun S, Topcu M, Gunay M, et al. Neurologic features as the initial presentations of childhood malignancies. Pediatr Neurol. 1994;10:40–43.

    CAS  PubMed  Google Scholar 

  41. Babalola OE, Murdoch IE, Cousens S, et al. Blindness: How to assess numbers and causes? Br J Opthalmol. 2003;87:282–284.

    CAS  Google Scholar 

  42. Babovic-Vuksanovic D, Snow K, Patterson MC, et al. Spino­cerebellar ataxia type 2 (SCA2) in an infant with extreme CAG repeat expansion. Am J Med Genet. 1998;79:383–387.

    CAS  PubMed  Google Scholar 

  43. Badea N. Crouzon's disease. Oftalmologia. 1991;35:63–66.

    CAS  PubMed  Google Scholar 

  44. Baker RH, Trautmann JC, Younge BR, et al. Late juvenile-onset Krabbe’s disease. Ophthalmology. 1990;97:1176–1180.

    CAS  PubMed  Google Scholar 

  45. Bamashmus MA, Matlhaga B, Dutton GN. Causes of blindness and visual impairment in the West of Scotland. Eye. 2004;18:257–261.

    CAS  PubMed  Google Scholar 

  46. Bandello F, Rosa N, Ghisolfi F, et al. New findings in the Parry-Romberg syndrome: A case report. Eur J Ophthalmol. 2002;12:556–558.

    CAS  PubMed  Google Scholar 

  47. Banna M, Hoare RD, Stanley P, et al. Craniopharyngioma in children. J Pediatr. 1973;83:781–785.

    CAS  PubMed  Google Scholar 

  48. Barbet F, Gerber S, Hakiki S, et al. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Eur J Hum Genet. 2003;11:966–971.

    CAS  PubMed  Google Scholar 

  49. Barbet F, Hakiki S, Orssaud C, et al. A third locus for dominat optic atrophy on chromosome 22q. J Med Genet. 2005;42:e1.

    CAS  PubMed  Google Scholar 

  50. Barboni P, Savini G, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber’s hereditary optic neuropathy. Ophthalmology. 2005;112:120–126.

    PubMed  Google Scholar 

  51. Barkovich AJ. Pediatric Neuroimaging. Philadephia, PA: Lippincott Williams and Wilkins; 2005:231–439.

    Google Scholar 

  52. Barrett TG, Bundley SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346:1458–1463.

    CAS  PubMed  Google Scholar 

  53. Barrientos A, Volpini V, Casademont J, et al. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest. 1996;97:1570–1576.

    CAS  PubMed  Google Scholar 

  54. Bartels MC, Vaandrager JM, de Jong TH, et al. Visual loss in syndromic craniosynostosis with papilledema but without other symptoms of intracranial hypertension. J Craniofacial Surg. 2004;15:1019–1022, Discussion 1023–1024.

    Google Scholar 

  55. Bartlett JR. Craniopharyngiomas: Summary of 85 cases. J Neurol Neurosurg Psychiatr. 1971;34:37–41.

    CAS  PubMed  Google Scholar 

  56. Basel-Vanagaite L, Straussberg R, Ovadia H, et al. Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology. 2004;62:87–90.

    CAS  PubMed  Google Scholar 

  57. Baskin DS, Wilson CB. Surgical management of craniopharyngiomas: A review of 74 cases. J Neurosurg. 1986;65:22–27.

    CAS  PubMed  Google Scholar 

  58. Beatty RM, Sadun AA, Smith L, et al. Direct demonstration of transsynaptic degeneration in the human visual system: a comparison of retrograde and anterograde changes. J Neurol Neurosurg Psychiatry. 1982;45:143–146.

    CAS  PubMed  Google Scholar 

  59. Behr C. Die Komplizieric hereditar-familiare Op­tikusatrophie des kindesalters. Klin Mb Augen­heilk. 1909;47:318.

    Google Scholar 

  60. Bekibele CO, Onabanjo OA. Orbital cellulitis: A review of 21 cases from Ibadan, Nigeria. Int J Clin Pract. 2003;57:14–16.

    CAS  PubMed  Google Scholar 

  61. Ben-Dov IZ, Meiner V, Eid A. Kidney transplantation unraveling Wolfram syndrome: A case report. Transplantation. 2001;72:958–960.

    CAS  PubMed  Google Scholar 

  62. Bell RA, Thompson HS. Relative afferent pupillary defect in optic tract hemianopias. Am J Ophthalmol 1978;85:538–540.

    CAS  PubMed  Google Scholar 

  63. Benecke R, Berthold A, Conrad B. Denervation activity in the EMG of patients with upper motor neuron lesions: time course, local distribution and pathogenetic aspects. J Neurol. 1983;230:143–151.

    CAS  PubMed  Google Scholar 

  64. Bénichou OD, Laredo JD, de Vernejoul MC. Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): Clinical and radiological manifestations in 42 patients. Bone. 2000;26:87–93.

    PubMed  Google Scholar 

  65. Bénit P, Siama A, Cartault F, et al. Mutant NDUFS3 subunit of mitochondrial complex 1 causes Leigh syndrome. J Med Genet. 2004;41:14–17.

    PubMed  Google Scholar 

  66. Bennett JL. Developmental neurogenetics and neuro-ophthalmology. J Neuroophthalmol. 2002;22:286–296.

    PubMed  Google Scholar 

  67. Bennett MJ, Gibson KM, Sherwood WG, et al. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis. J Inher Metab Dis. 1993;16:831–836.

    CAS  PubMed  Google Scholar 

  68. Benomar A, Krols L, Stevanin G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-21.1. Nature Genet. 1995;10:84–88.

    CAS  PubMed  Google Scholar 

  69. Berk AT, Yaman A, Saatçi AO. Ocular and systemic findings associated with optic disk colobomas. J Pediatr Ophthalmol Strabismus. 2003;40:272–278.

    PubMed  Google Scholar 

  70. Berker N, Batman C, Guven A, et al. Optic atrophy and macular degeneration as initial presentations of subacute sclerosing panencephalitis. Am J Ophthalmol. 2004;138:879–881.

    PubMed  Google Scholar 

  71. Berker N, Batman C, Ozdamar Y, et al. Long-term outcomes of heavy silicone oil tamponade for complicated retinal detachment. Eur J Ophthalmol. 2007;17:797–803.

    CAS  PubMed  Google Scholar 

  72. Berman JL, Kashii S, Trachtman MS, et al. Optic neuropathy and central nervous system disease secondary to Sjogren's syndrome in a child. Ophthalmology. 1990;97:1606–1609.

    CAS  PubMed  Google Scholar 

  73. Berninger TA, Jaeger W, Krastel H. Electrophysiology and colour perimetry in dominant infantile optic atrophy. Br J Ophthalmol. 1991;75:49–52.

    CAS  PubMed  Google Scholar 

  74. Bhattacharyya PC. Behr disease. J Assoc Physicians India. 1985;33:674–675.

    CAS  PubMed  Google Scholar 

  75. Bhatti MT, Newman NJ. A multiple sclerosis-like illness in a man harboring the mtDNA 14484 mutation. J Neuroophthalmol. 1999;19:28–33.

    CAS  PubMed  Google Scholar 

  76. Bindu PS, Desai S, Shehanaz KE, et al. Clinical heterogeneity in Hallervorden–Spatz syndrome: A clinicoradiological study in 13 patients from South India. Brain Dev. 2006;28:343–347.

    CAS  PubMed  Google Scholar 

  77. Bindu PS, Mahadevan A, Taly AB, et al. Peripheral neuropathy in metachromatic leucodystrophy: A study of 40 cases from South India. J Neurol Neurosurg Psychiatry. 2005;76:1698–1701.

    CAS  PubMed  Google Scholar 

  78. Biousse V, Ameri A, Bousser MG. Isolated intracranial hypertension as the only sign of cerebral venous thrombosis. Neurology. 1999;53:1537–1542.

    CAS  PubMed  Google Scholar 

  79. Bitouin P, Martin-Pont B, Tamboise E, et al. Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: A human mitotic mutation. Ann Génét. 1994;37:75–77.

    Google Scholar 

  80. Blazo MA, Lewis RA, Chintagumpala MM, et al. Outcomes of systematic screening for optic pathway tumors in children with neurofibromatosis type 1. Am J Med Genet. 2004;127A:224–229.

    CAS  PubMed  Google Scholar 

  81. Blohmé J, Tornqvist K. Visually impaired Swedish children. The 1980 cohort study: Aspects on mortality. Acta Ophthalmol Scand. 2000;78:560–565.

    PubMed  Google Scholar 

  82. Bodunde OT, Ojibode HA. Congenital eye diseases at Olabisi Onabanjo University Teaching Hospital, Sagamu, Nigeria. Niger J Med. 2006;15:291–294.

    CAS  PubMed  Google Scholar 

  83. Boiko AN, Guseva ME, Guseva MR, et al. Clinico-immunogenetic characteristics of multiple sclerosis with optic neuritis in children. J Neurovirol. 2000;6(Suppl 2):S152-S155.

    PubMed  Google Scholar 

  84. Borgna-Pignatti C, Marradi P, Pinelli L, et al. Thi­amine-responsive anemia in DIDMOAD syn­drome. J Pediatr. 1989;114:405–410.

    CAS  PubMed  Google Scholar 

  85. Borrett D, Becker LE. Alexander disease: A disease of astrocytes. Brain. 1985;108:367–385.

    PubMed  Google Scholar 

  86. Borruat FX, Kawasaki A. Optic nerve massaging: An extremely rare cause of self-inflicted blindness. Am J Ophthalmol. 2005;139:715–716.

    PubMed  Google Scholar 

  87. Borruat FX, Schatz NJ, Glaser JS, et al. Visual re­covery from radiation-induced optic neuropathy. The role of hyperbaric oxygen therapy. J Clin Neuro-Ophthalmol. 1993;13:98–101.

    CAS  Google Scholar 

  88. Borruat FX, et al. Late onset Leber's optic neu­ropathy: A case confused with ischaemic optic neuropathy. Br J Ophthalmol. 1992;76:571–575.

    CAS  PubMed  Google Scholar 

  89. Bosley TM, Brodsky M, Glasier CM, et al. Sporadic bilateral optic neuropathy in children: The role of mitochondrial abnormalities. Invest Ophthalmol Vis Sci. 2008;49:5250–5256.

    PubMed  Google Scholar 

  90. Bothe N, Lieb B, Schafer WD. Development of impaired vision in mentally handicapped children. Klin Monatsbl Augenheilkd. 1991;198:509–514.

    CAS  PubMed  Google Scholar 

  91. Bouhlal Y, El-Euch-Fayeche G, Amouri R, et al. Distinct phenotypes within autosomal recessive ataxias not linked to already known loci. Acta Myol. 2005;24:155–161.

    CAS  PubMed  Google Scholar 

  92. Bower SP, Hawley I, Mackey DA. Cardiac arrhythmia and Leber’s hereditary optic neuropathy. Lancet. 1992;339:1427–1428.

    CAS  PubMed  Google Scholar 

  93. Bowman RJC, Wedner S, Bowman RF, et al. Optic neuropathy in secondary school children in Dar es Salaam, Tanzania. Br J Ophthalmol. 2010;94:146–149.

    CAS  PubMed  Google Scholar 

  94. Bozkurt B, Irkeç M, Gedik S, et al. Effect of peripapillary chorioretinal atrophy on GDx parameters in patients with degenerative myopia. Clin Exp Ophthalmol. 2002;30:411–414.

    Google Scholar 

  95. Bracken MB, Holford TR. Effects of timing of methylprednisolone or naloxone adminstration on recovery of segmental and long-tract neurologic function in NASCIS 2. J Neurosurg. 1993;79:500–507.

    CAS  PubMed  Google Scholar 

  96. Bremner FD, Tomlin EA, Swhallo-Hoffmann J, et al. Comparing pupil function with visual function in patients with Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 1999;40:2528–2534.

    CAS  PubMed  Google Scholar 

  97. Brodsky MC. The “pseudo-CSF” signal of orbital optic glioma on magnetic resonance imaging: a signature of neurofibromatosis. Surv Ophthalmol. 1993;38(2):213–218.

    CAS  PubMed  Google Scholar 

  98. Brodsky MC. Periventricular leukomalacia: An intracranial cause of pseudoglaucomatous cupping. Arch Ophthalmol. 2001;119:626–627.

    CAS  PubMed  Google Scholar 

  99. Brodsky MC, Fray KJ, Glasier CM. Perinatal cortical and subcortical visual loss: mechanisms of injury and associated ophthalmologic signs. Ophthalmology. 2002;109:85–94.

    PubMed  Google Scholar 

  100. Brodsky MC, Glasier CM, Pollock SC, et al. Optic nerve hypoplasia identification by magnetic reso­nance imaging. Arch Ophthalmol. 1990;108:1562–1567.

    CAS  PubMed  Google Scholar 

  101. Brodsky MC, Hout WF, Newton DR. The “phantom” optic nerve: Demonstration in CT and MR scans 19 years after resection of optic glioma. J Clin Neuro-Ophthalmol. 1988;8:67–68.

    CAS  Google Scholar 

  102. Brodsky MC, Hoyt WF, Barnwell SL, et al. Intrachiasmatic craniopharyngioma: A rare cause of chi­asmal thickening. Case report. J Neurosurg. 1988;68(2):300–302.

    CAS  PubMed  Google Scholar 

  103. Brookes JT, Kanis AB, Tan LY, et al. Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome. Int J Pediatr Otorhinolaryngol. 2008;72:121–126.

    PubMed  Google Scholar 

  104. Brown MD, Allen JC, Van Stavern GP, et al. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am J Med Genet. 2001;104:331–338.

    CAS  PubMed  Google Scholar 

  105. Brown MD, Hosseini S, Steiner I, et al. Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy. Mov Disord. 2004;19:235–237.

    PubMed  Google Scholar 

  106. Brown WF, Snow R. Denervation in hemiplegic muscles. Stroke. 1990;21:1700–1704.

    CAS  PubMed  Google Scholar 

  107. Brown MD, Zhadanov S, Allen JC, et al. Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Hum Genet. 2001;109:33–39.

    CAS  PubMed  Google Scholar 

  108. Brueton LA, Winter RM. Craniodiaphysial dysplasia. J Med Genet. 1990;27:701–706.

    CAS  PubMed  Google Scholar 

  109. Brunette JR, Bernier G. Study of a family of Leber’s optic atrophy with recuperation. In: Brunette JR, Barbeau A, eds. Progress in Neuro-Ophthalmology. Amsterdam: Excerpta Medica; 1969:91–97.

    Google Scholar 

  110. Bu X, Rotter JI. Wolfram syndrome: A mitochon­drial-mediated disorder? Lancet. 1993;342:598–600.

    CAS  PubMed  Google Scholar 

  111. Buchfelder M, Macpherson P. CT appearances of craniopharyngiomas before and after therapy. Zentralbl Neurochirurg. 1986;47:89–94.

    CAS  Google Scholar 

  112. Bulbul Baskan E, Baykara M, Ercan I, et al. Vitiligo and ocular findings: A study on possible associations. J Eur Acad Dermatol Venereol. 2006;20:829–833.

    CAS  PubMed  Google Scholar 

  113. Buncic JR. Ocular aspects of Apert syndrome. Clin Plast Surg. 1991;18:315–319.

    CAS  PubMed  Google Scholar 

  114. Buncic JR, Westall CA, Panton CM, et al. Characteristic retinal atrophy with secondary “inverse” optic atrophy identifies vigabatrin toxicity in children. Ophthalmology. 2004;111:1935–1942.

    PubMed  Google Scholar 

  115. Buono LM, Foroozan R. Perioperative posterior ischemic optic neuropathy: review of the literature. Surv Ophthalmol 2005;50(1):15–26.

    PubMed  Google Scholar 

  116. Bürk K, Abele M, Fetter M, et al. Autosomal dominant cerebellar ataxia type 1: clinical features and MRI in families with SCA1, SCA2, and SCA3. Brain. 1996;119:1497–1505.

    PubMed  Google Scholar 

  117. Burke JP, O'Keefe M, Bowell R, et al. Ocular complications in homocystinuria - early and late treated. Br J Ophthalmol. 1989;73(6):427–431.

    CAS  PubMed  Google Scholar 

  118. Burke JP, O'Keefe M, Bowell R, et al. Ophthalmic findings in maple syrup urine disease. Metab Pediatr Syst Ophthalmol. 1991;14:12–15.

    CAS  PubMed  Google Scholar 

  119. Buttner N, Geschwind D, Jen JC, et al. Oculomotor phenotypes in autosomal dominant ataxias. Arch Neurol. 1998;55:1353–1357.

    CAS  PubMed  Google Scholar 

  120. Byrd DJ, Krohn HP, Winkler L, et al. Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia. Eur J Pediatr. 1989;148(6):543–547.

    CAS  PubMed  Google Scholar 

  121. Cabezudo JM, Perez C, Vaquero J, et al. Pubertas praecox in craniopharyngioma: Case report. J Neurosurg. 1981;55:127–131.

    CAS  PubMed  Google Scholar 

  122. Cabezudo JM, Vaquero J, Garcia-de-Sola G, et al. Computed tomography with craniopharyngiomas: A review. Surg Neurol. 1981;15:422–427.

    CAS  PubMed  Google Scholar 

  123. Caines E, Dahl M, Holmström G. Longterm oculomotor and visual function in spina bifida cystica: A population-based study. Acta Ophthalmol Scand. 2007;85:662–666.

    PubMed  Google Scholar 

  124. Caksen H, Tuncer O, Ataş B, et al. A Turkish case of subcortical/subependymal heterotopia associated with corpus callosum dysgenesis, craniofacial dysmorphism, severe eye abnormalities, and growth-mental retardation. Genet Couns. 2003;14:343–348.

    CAS  PubMed  Google Scholar 

  125. Calogero JA, Alexander E. Unilateral amaurosis in a hydrocephalic child with an obstructed shunt: Case report. J Neurosurg. 1971;34:236.

    CAS  PubMed  Google Scholar 

  126. Campana G, Valentini G, Legnaioli MI, et al. Ocular aspects in biotinidase deficiency. Clinical and genetic original studies. Ophthal Paediatr Genet. 1987;8:125–129.

    CAS  Google Scholar 

  127. Campbell CL. Septo-optic dysplasia: A literature review. Optometry. 2003;74:417–426.

    PubMed  Google Scholar 

  128. Cano A, Molines L, Valéro R, et al. Microvascular diabetes complications in Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness [DIDMOAD]): An age- and duration-matched comparison with common type 1 diabetes. Diabetes Care. 2007;30:2327–2330.

    CAS  PubMed  Google Scholar 

  129. Cano A, Rouzier C, Monnot S, et al. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet. 2007;143A:1605–1612.

    CAS  PubMed  Google Scholar 

  130. Carango P, Funanage VL, Quirós RE, et al. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol. 1995;38:610–617.

    CAS  PubMed  Google Scholar 

  131. Carelli V, Franceschini F, Venturi S, et al. Grand rounds: Could occupational exposure to n-hexane and other solvents precipitate visual failure in Leber hereditary optic neuropathy? Environ Health Perspect. 2007;115:113–115.

    CAS  PubMed  Google Scholar 

  132. Carelli V, Giordano C, d’Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex, nuclear-mitochondrial interaction. Trends Genet. 2003;19:257–262.

    CAS  PubMed  Google Scholar 

  133. Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res. 2004;23:53–89.

    CAS  PubMed  Google Scholar 

  134. Carroll WM, Kriss A, Baraitser M, et al. The incidence and nature of visual pathway involvement in Friedreich’s ataxia. A clinical and visual evoked potential study of 22 patients. Brain. 1980;103:413.

    CAS  PubMed  Google Scholar 

  135. Carroll AL, Sullivan TJ. Orbital involvement in cherubism. Clin Experiment Ophthalmol. 2001;29:38–40.

    CAS  PubMed  Google Scholar 

  136. Carta A, Carelli V, D’Adda T, et al. Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber’s hereditary optic neuropathy. Br J Ophthalmol. 2005;89:825–827.

    CAS  PubMed  Google Scholar 

  137. Cassidy L, Stirling R, May K, et al. Ophthalmic complications of childhood medulloblastoma. Med Pediatr Oncol. 2000;34:43–47.

    CAS  PubMed  Google Scholar 

  138. Casteels I, Spileers W, Swinnen T, et al. Optic atrophy as the presenting sign in Hallervorden–Spatz syndrome. Neuropediatrics. 1994;25:265–267.

    CAS  PubMed  Google Scholar 

  139. Castelnau P, Zilbovicius M, Ribeiro MJ, et al. Striatal and pontocerebellar hypoperfusion in Hallervorden–Spatz syndrome. Pediatr Neurol. 2001;25:170–174.

    CAS  PubMed  Google Scholar 

  140. Castro FJ, Barrio J, Perena MF, et al. Uncommon ophthalmologic findings associated with Wolfram syndrome. Acta Ophthalmol Scand. 2000;78:118–119.

    CAS  PubMed  Google Scholar 

  141. Castro-Gago M, Rodriguez-Nunez A, Eiris J, et al. Familial agenesis of the corpus callosum: A new form. Arch Fr Pediatr. 1993;50:327–330.

    CAS  PubMed  Google Scholar 

  142. Cerovski B, Barisić N, Vidović T, et al. Bilateral amaurosis caused by Salmonella enteritidis infection. Coll Antropol. 2004;28:927–930.

    PubMed  Google Scholar 

  143. Chan JW. Paraneoplastic retinopathies and optic neuropathies. Surv Ophthalmol. 2003;48:12–38.

    PubMed  Google Scholar 

  144. Chan T, Bowell R, O'Keefe M, et al. Ocular manifestations in fetal alcohol syndrome. Br J Ophthalmol. 1991;75(9):524–526.

    CAS  PubMed  Google Scholar 

  145. Chang CW, Chang CH, Peng ML. Leber’s hereditary optic neuropathy: A case report. Kaohsiung J Med Sci. 2003;19:516–21.

    PubMed  Google Scholar 

  146. Chansoria M, Agrawal A, Ganghoriya P, et al. Pseudotumor cerebri with transient oculomotor palsy. Indian J Pediatr. 2005;72:1047–1048.

    PubMed  Google Scholar 

  147. Chelluri L, Jastremski MS. Bilateral optic atrophy after cardiac arrest in a patient with acute respiratory failure on positive pressure ventilation. Resuscitation. 1988;16:45–48.

    CAS  PubMed  Google Scholar 

  148. Chen AS, Kovach MJ, Herman K, et al. Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families. Genet Med. 2000;2:283–289.

    CAS  PubMed  Google Scholar 

  149. Chen HY, Wu DL, Tsai RK. Acute esotropia may be a presenting sign of intracranial neoplasm. Kaohsiung J Med Sci. 1998;14:710–716.

    CAS  PubMed  Google Scholar 

  150. Chen S, Zhang Y, Wang Y, et al. A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family. Am J Ophthalmol. 2007;143:186–188.

    CAS  PubMed  Google Scholar 

  151. Cherninkova S, Tzekov H, Karakostov V. Compar­ative ophthalmologic studies on children and adults with craniopharyngiomas. Ophthalmologica. 1990;201(4):201–205.

    CAS  PubMed  Google Scholar 

  152. Chinnery PF, Johnson MA, Wardell TM, et al. The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol. 2000;48:188–193.

    CAS  PubMed  Google Scholar 

  153. Chinnery PF, Schon EA. Mitochondria. J Neurol Neurosurg Psychiatry. 2003;74:1188–1199.

    CAS  PubMed  Google Scholar 

  154. Chitayat D, Silver K, Azouz EM. Skeletal dysplasia, intracerebral calcifications, optic atrophy, hear­ing impairment, and mental retardation: nosology of dysosteosclerosis. Am J Med Genet. 1992;43:517–523.

    CAS  PubMed  Google Scholar 

  155. Christiansen SP, Fray KJ, Spencer T. Ocular outcomes in low birth weight premature infants with intraventricular hemorrhage. J Pediatr Ophthalmol Strabismus. 2002;39:157–165.

    PubMed  Google Scholar 

  156. Chronister CL, Gurwood AS, Burns CM, et al. Leber’s hereditary optic neuropathy: A case report. Optometry. 2005;76:302–308.

    PubMed  Google Scholar 

  157. Chuenkongkaew WL, Lertrit P, Limwongse C, et al. An unusual family with Leber’s hereditary optic neuropathy and facioscapulohumeral muscular dystrophy. Eur J Neurol. 2005;12:388–391.

    CAS  PubMed  Google Scholar 

  158. Chuenkongkaew WL, Letrit P, Poonyathalang A, et al. Leber’s hereditary optic neuropathy in Thailand. Jpn J Ophthalmol. 2001;45:665–668.

    CAS  PubMed  Google Scholar 

  159. Chuenkongkaew WL, Suphavilai R, Vaeusorn L, et al. Proportation of 11778 mutant mitochondrial DNA and clinical expression in a Thai population with Leber hereditary optic neuropathy. J Neuroophthalmol. 2005;25:173–175.

    PubMed  Google Scholar 

  160. Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset Charcot–Marie–Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006;129:2103–2118.

    CAS  PubMed  Google Scholar 

  161. Chutorian JW, Winterkorn J, Genner M. Anterior ischemic optic neuropathy in children: Case reports and review of the literature. Pediatr Neurol 2002;26:358–364.

    PubMed  Google Scholar 

  162. Chutorian AM. Acute loss of vision in children. Rev Neurol. 2003;36:264–271.

    CAS  PubMed  Google Scholar 

  163. Cillino S, Anastasi M, Lodato G. Incomplete Wol­fram syndrome: clinical and electrophysiologic study of two familial cases. Graefes Arch Clin Exp Ophthalmol. 1989;227:131–135.

    CAS  PubMed  Google Scholar 

  164. Coats DK, Demmler GJ, Paysse EA, et al. Ophthalmologic findings in children with congenital cytomegalovirus infection. J AAPOS. 2000;4:110–116.

    CAS  PubMed  Google Scholar 

  165. Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1946;21:52–54.

    CAS  Google Scholar 

  166. Cogan DG, Schulman J, Porter RJ, et al. Epileptiform ocular movements with methylmalonic aciduria and homocystinuria. Am J Ophthalmol. 1980;90:251–253.

    CAS  PubMed  Google Scholar 

  167. Cohen SM, Brown FR III, Martyn L, et al. Ocular histopathologic and biochemical studies of the cerebrohepatorenal syndrome (Zellweger’s syndrome) and its relationship to neonatal adrenoleukodystrophy. Am J Ophthalmol. 1992;95:82–96.

    Google Scholar 

  168. Cohen SM, Green WR, De la Cruz ZC, et al. Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy. Am J Ophthalmol. 1992;95:82–96.

    Google Scholar 

  169. Cohn AC, Toomes C, Potter C, et al. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol. 2007;143:656–662.

    PubMed  Google Scholar 

  170. Coleman P, Barnard NA. Congenital hypertrophy of the retinal pigment epithelium: Prevalence and ocular features in the optometric population. Ophthalmic Physiol Opt. 2007;27:547–555.

    PubMed  Google Scholar 

  171. Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the sys­temic mucopolysaccharidoses. Ophthalmology. 1990;97:1445–1449.

    CAS  PubMed  Google Scholar 

  172. Colosimo A, Guida V, Rigoli L, et al. Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay. Hum Mutat. 2003;21:622–629.

    CAS  PubMed  Google Scholar 

  173. Comaish IF, Gorman C, Brimlow GM, et al. The effects of vigabatrin on electrophysiology and visual fields in epileptics: a controlled study with a discussion of possible mechanisms. Doc Ophthalmol. 2002;104:195–212.

    CAS  PubMed  Google Scholar 

  174. Copeliovitch L, Katz K, Arbel N, et al. Musculoskeletal deformities in Behr syndrome. J Pediatr Orthop. 2001;21:512–514.

    CAS  PubMed  Google Scholar 

  175. Corbett JJ. Neuro-ophthalmologic complications of hydrocephalus and shunting procedures. Semin Neurol. 1986;6:111–123.

    CAS  PubMed  Google Scholar 

  176. Cordes FC. Optic atrophy in infancy, childhood and adolescence. Am J Ophthalmol. 1952;35:1272–1284.

    CAS  PubMed  Google Scholar 

  177. Corona-Rivera JR, González-Abarca S, Hernández-Rocha J, et al. Mental retardation in a boy with anterior cervical hypertrichosis. Am J Med Genet. 2005;135:69–71.

    PubMed  Google Scholar 

  178. Costeff H, Elpeleg O, Apter N, et al. 3-Methylglutaconic aciduria in “optic atrophy plus”. Ann Neurol. 1993;33(1):103–104.

    CAS  PubMed  Google Scholar 

  179. Costeff H, Gadoth N, Apter N, et al. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia. Neurology. 1989;39:595–597.

    CAS  PubMed  Google Scholar 

  180. Costenbader FD, O'Rourk TR. Optic atrophy in childhood. J Pediatr Ophthalmol. 1968;5:77.

    Google Scholar 

  181. Craig JE, Hewitt AW, Dimasi DP. The role of the Met98Lys optineurin variant in inherited optic nerve diseases. Br J Ophthalmol. 2006;90:1420–1424.

    CAS  PubMed  Google Scholar 

  182. Cullom ME, Hehler KL, Miller NR, et al. Leber's hereditary optic neuropathy masquerading as to­bacco-alcohol amblyopia. Arch Ophthalmol. 1993;111:1482–1485.

    CAS  PubMed  Google Scholar 

  183. Curé JK, Key LL, Goltra DD, et al. Cranial MR imaging of osteopetrosis. AJNR Am J Neuroradiol. 2000;21:1110–1115.

    PubMed  Google Scholar 

  184. D’Arrigo S, Grazia BM, Faravelli F, et al. Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining? J Child Neurol. 2005;20:454–456.

    PubMed  Google Scholar 

  185. da Cunha Linhares S, Horta WG, Marques Júnior W. Spinocerebellar ataxia type 7 (SCA 7): Family princeps history, genealogy, and geographical distribution. Arq Neuropsquiatr. 2006;l64:222–227.

    Google Scholar 

  186. Dailey RA. Optic nerve sheath meningiomas of childhood. Ophthalmol Clin North Am. 1991;4(3):519–529.

    Google Scholar 

  187. Damji KF, Sohocki MM, Khan R, et al. Leber’s congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. Can J Ophthalmol. 2001;36:252–259.

    CAS  PubMed  Google Scholar 

  188. Dandona L, Dandona R, Srinivas M, et al. Unilateral visual impairment in an urban population in southern India. Indian J Ophthalmol. 2000;48:59–64.

    CAS  PubMed  Google Scholar 

  189. Dandona R, Dandona L, Srinvas M, et al. Planning low vision services in India: A population-based perspective. Ophthalmology. 2002;109:1871–1878.

    PubMed  Google Scholar 

  190. Daneshvar H, Racette L, Coupland SG, et al. Symptomatic and asymptomatic visual loss in patients taking vigabatrin. Ophthalmology. 1999;106:1792–1798.

    CAS  PubMed  Google Scholar 

  191. David G, Abbas N, Stevanin G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65.

    CAS  PubMed  Google Scholar 

  192. David LR, Velotta E, Weaver RG Jr, et al. Clinical findings precede objective diagnostic testing in the identification of increased ICP in syndromic craniosynotosis. J Craniofac Surg. 2002;13:767–680.

    Google Scholar 

  193. Davis PC, Hoffman JC Jr, Pearl GS, et al. CT eval­uation of effects of cranial radiation therapy in children. Am J Neuro-Radiol. 1986;7:639–644.

    Google Scholar 

  194. de Vries L, Lazar L, Phillip M. Craniopharyngioma: presentation and endocrine sequelae in 36 children. J Pediatr Ednocrinol Metab. 2003;16:703–710.

    Google Scholar 

  195. De Weerdt CJ, Went LN. Neurological studies in families with Leber’s optic atrophy. Acta Neurol Scand. 1971;47:541–544.

    PubMed  Google Scholar 

  196. Debray FG, Lambert M, Chevaller I, et al. Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics. 2007;119:722–733.

    PubMed  Google Scholar 

  197. DeCarlo DK, Nowakowski R. Causes of visual impairment among students at the Alabama School for the Blind. J Am Optom Assoc. 1999;70:647–652.

    CAS  PubMed  Google Scholar 

  198. Deda G, Caksen H, Içağasioğlu D. A fatal case of cerebellar hypoplasia associated with anterior horn cell disease. Genet Couns. 2003;14:253–256.

    CAS  PubMed  Google Scholar 

  199. Defoort-Dhellemmes S, Moritz F, Boucha I, et al. Cranio­pharyngioma: Ophthalmological aspects at diagnosis. J Pediatr Endocrinol Metab. 2006;19:321–324.

    PubMed  Google Scholar 

  200. Delague V, Bareil C, Bouvagnet P, et al. A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-26 in a large consanguineous Lebanese Druze Family. Neurogenetics. 2002;4:23–27.

    CAS  PubMed  Google Scholar 

  201. Delettre C, Lenaers G, Griffoin JM, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000;26:207–210.

    CAS  PubMed  Google Scholar 

  202. Demer JL, Clark RA, Engle EC. Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A. Invest Ophthalmol Vis Sci. 2005;46:530–539.

    PubMed  Google Scholar 

  203. den Hollander AI, Heckenlively JR, van den Born LI, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001;69:198–203.

    Google Scholar 

  204. DeVivo DC. The expanding clinical spectrum of mitochondrial disease. Brain Dev. 1993;15:1–21.

    CAS  Google Scholar 

  205. Dhalla MS, Desai UR, Zuckerbrod DS. Pigmentary maculopathy in a patient with Wolfram syndrome. Can J Ophthalmol. 2006;41:38–40.

    PubMed  Google Scholar 

  206. Dharmaraj SR, Silva ER, Pina AL, et al. Mutational analysis and clinical correlation in Leber congenital amaurosis. Ophthalmic Genet. 2000;21:135–150.

    CAS  PubMed  Google Scholar 

  207. Di Gennaro G, Condoluci C, Casali C, et al. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. Pediatr Neurol. 1999;21:566–568.

    PubMed  Google Scholar 

  208. Diamond GA, D’Amico RA, Axelrod FB. Optic nerve dysfunction in familial dysautonomia. Am J Ophthalmol. 1987;104:645–649.

    CAS  PubMed  Google Scholar 

  209. Dillmann U, Heide G, Dietz B, et al. Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: Report on a family. J Neurol. 1997;244:562–565.

    CAS  PubMed  Google Scholar 

  210. DiMauro S, De Vivo DC. Genetic heterogeneity in Leigh syndrome. Ann Neurol. 1996;40:5–7.

    CAS  PubMed  Google Scholar 

  211. Dimitratos SD, Stathakis DG, Nelson CA, et al. The location of human CASK at Xp11.4 identifies this gene as a candidate for X-linked optic atrophy. Genomics. 1998;51:309.

    Google Scholar 

  212. Dineen J, Hendrickson A, Keating EG. Alterations of retinal inputs following striate cortex removal in adult monkey. Exp Brain Res. 1982;47:446–456.

    CAS  PubMed  Google Scholar 

  213. Dogulu CF, Kansu T, Seyrantepe V, et al. Mitochondrial DNA analysis in the Turkish Leber’s hereditary optic neuropathy population. Eye. 2001;15(Pt 2):183–188.

    CAS  PubMed  Google Scholar 

  214. Dohi MT, Bardell AM, Stefano N, et al. Optic atrophy in Marinesco-Sjogren syndrome: An additional ocular feature. Ophthal Paediatr Genet. 1993;14:5–7.

    Google Scholar 

  215. Doll R, Natowicz MR, Schiffmann R, et al. Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet. 1992;51:161–169.

    CAS  PubMed  Google Scholar 

  216. Dollfus H, Häfner R, Hofmann HM, et al. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: Ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol. 2000;118:1386–1392.

    CAS  PubMed  Google Scholar 

  217. Domenèch E, Gomez-Zaera M, Nunes V. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. Pediatr Endocrinol Rev. 2006;3:249–257.

    PubMed  Google Scholar 

  218. Domenèch E, Kruyer H, Gómez C, et al. First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene. Prenat Diagn. 2004;24:787–789.

    PubMed  Google Scholar 

  219. Dörfler A, Wanke I, Wiedemayer H, et al. Endovascular treatment of a giant aneurysm of the internal carotid artery in a child with visual loss: Case report. Neuropediatrics. 2000;31:151–154.

    PubMed  Google Scholar 

  220. Drack AV, Traboulsi EI, Maumenee IH. Progression of retinopathy in olivopontocerebellar atrophy with retinal degeneration. Arch Ophthalmol. 1992;110:712–713.

    CAS  PubMed  Google Scholar 

  221. Dreyer M, Rudiger HW, Bujara K, et al. The syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities (DIDMOAD-syndrome). Two affected sibs and a short review of the literature (98 cases). Klin Wochenschr. 1982;60:471–475.

    CAS  PubMed  Google Scholar 

  222. Dryja TP, Adams SM, Grimsby JL, et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001;68:1295–1298.

    CAS  PubMed  Google Scholar 

  223. Du JW, Schmid KL, Bevan JD, et al. Retrospective analysis of refractive errors in children with vision impairment. Optom Vis Sci. 2005;82:1000.

    Google Scholar 

  224. DuBois LG, Feldon SE. Evidence for a metabolic trigger for Leber’s hereditary optic neuropathy. A case report. J Clin Neuroophthalmol. 1992;12:15–16.

    CAS  PubMed  Google Scholar 

  225. Duman O, Balta G, Metinsoy M, et al. Unusual manifestation of subacute sclerosing panencephalitis: Case with intracranial high-pressure symptoms. J Child Neurol. 2004;19:552–555.

    PubMed  Google Scholar 

  226. Durr A, Brice A, Lepage-Lezin A, et al. Autosomal dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). Clin Neurosci. 1995;3:12–16.

    CAS  PubMed  Google Scholar 

  227. Dutton JJ. Gliomas of the anterior visual pathway. Surv Ophthalmol. 1994;38:427–452.

    CAS  PubMed  Google Scholar 

  228. Dutton JJ, Burde RM. Anterior ischemic optic neu­ropathy of the young. J Clin Neuro-Ophthalmol. 1983;3(2):137–146.

    CAS  Google Scholar 

  229. Eckhardt SM, Hicks EM, Herron B, et al. New form of autosomal-recessive axonal hereditary sensory motor neuropathy. Pediatr Neurol. 1998;19:234–235.

    CAS  PubMed  Google Scholar 

  230. Edwards TL, Buttery RG, Mackey DA. Is second eye involvement in Leber’s hereditary optic neuropathy due to retro-chiasmal spread of apoptosis? Neuro-Ophthalmology. 2007;31:87–98.

    Google Scholar 

  231. Edwards AO, Miedziak A, Vrabec T, et al. Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. Am J Ophthalmol. 1999;127:426–435.

    CAS  PubMed  Google Scholar 

  232. Egan RA, Weleber RG, Hogarth P, et al. Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallevorden-Spatz syndrome). Am J Ophthalmol. 2005;140:267–274.

    CAS  PubMed  Google Scholar 

  233. Eiberg H, Hansen L, Kjer B, et al. Autosomal dominant optic atrophy associated with hearing impairment and imparied glucose regulation caused by a missense mutation in the WSF1 Gene. J Med Genet. 2006;43:435–440.

    CAS  PubMed  Google Scholar 

  234. Eke T, Talbot JF, Lawden MC. Severe persistent visual field constriction associated with vigabatrin. BMJ. 1997;314:180–181.

    CAS  PubMed  Google Scholar 

  235. el-Azazi M, Maim G, Forsgren M. Late ophthalmologic manifestations of neonatal herpes simplex virus infection. Am J Ophthalmol. 1990;109:1–7.

    CAS  PubMed  Google Scholar 

  236. Elberg H, Kjer B, Kjer P, et al. Dominant optic atrophy (OPAI) mapped to chromosome 3q region. I: linkage analysis. Hum Molecular Genet. 1994;3:977–980.

    CAS  Google Scholar 

  237. Eldevik OP, Blaivas M, Gabrielsen TO, et al. Craniopharyngioma: radiologic and histologic findings and recurrence. AJNR Am J Neuroradiol. 1996;17:1427–1439.

    CAS  PubMed  Google Scholar 

  238. Eliott D, Traboulsi EI, Maumenee IH. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993;115(3):360–367.

    CAS  PubMed  Google Scholar 

  239. Ells AL, Kherani A, Lee D. Epiretinal membrane formation is a late manifestation of shaken baby syndrome. J AAPOS. 2003;7:223–225.

    PubMed  Google Scholar 

  240. Elpeleg ON, Costeff H, Joseph A, et al. 3-Methyl­glutaconic aciduria in the Iraqi-Jewish “optic atrophy plus” (Costeff) syndrome. Dev Med Child Neurol. 1994;36:167–172.

    CAS  PubMed  Google Scholar 

  241. El-Shanti H, Lidral AC, Jarrah N, et al. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet. 2000;66:1229–1236.

    CAS  PubMed  Google Scholar 

  242. Enevoldson TP, Sanders MD, Harding AE. Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy (a clinical and genetic study of eight families). Brain. 1994;117:445.

    PubMed  Google Scholar 

  243. Ergür O, Ergür AT, Güler C. Regressed retinopathy of prematurity in children aged 5-8 years in Sivas, Turkey. Turk J Pediatr. 2000;42:48–52.

    PubMed  Google Scholar 

  244. Ersahin Y, Mutluer S, Guzelbag E. Intracranial hydatid cysts in children. Neurosurgery. 1993;33:219–224; (discussion):224–225.

    CAS  PubMed  Google Scholar 

  245. Ersanli D, Sonmez M, Unal M, et al. Management of retinal detachment due to closed globe injury by pars plana vitrectomy with and without scleral buckling. Retina. 2006;26:32–36.

    PubMed  Google Scholar 

  246. Esmaili N, Bradfield YS. Pseudotumor cerebri in children with Down syndrome. Ophthalmology. 2007;114:1773–1778.

    PubMed  Google Scholar 

  247. Esteitie N, Hinttala R, Wibom R, et al. Secondary metabolic effects in complex I deficiency. Ann Neurol. 2005;58:544–552.

    CAS  PubMed  Google Scholar 

  248. Eustis HS, Yaplee SM, Kogutt M, et al. Microspherophakia in association with the rhizomelic form of chondrodysplasia punctata. J Pediatr Ophthalmol Strabismus. 1990;27:237–241.

    CAS  PubMed  Google Scholar 

  249. Farber MD. National Registry for the Blind in Israel: Estimation of prevalence and incidence rates and causes of blindness. Opthalmic Epidemiol. 2003;10:267–277.

    Google Scholar 

  250. Fardet L, Généreau T, Mikaeloff Y, et al. Devic’s neuromyelitis optica: Study of nine cases. Acta Neurol Scand. 2003;108:193–200.

    CAS  PubMed  Google Scholar 

  251. Farina L, Nardocci N, Bruzzone MG, et al. Infantile neuroaxonal dystrophy: Neuroradiological studies in 11 patients. Neuroradiology. 1999;41:376–380.

    CAS  PubMed  Google Scholar 

  252. Farukhi F, Dakkouri C, Wang H, et al. Etiology of vision loss in ganglioside GM3 synthase deficiency. Ophthalmic Genet. 2006;27:89–91.

    CAS  PubMed  Google Scholar 

  253. Fauser S, Luberichs J, Besch D, et al. Sequence analysis of the complete mitochondrial genome in patients with Leber’s hereditary optic neuropathy lacking the three most common pathogenic DNA mutations. Biochem Biophys Res Commun. 2002;295:342–347.

    CAS  PubMed  Google Scholar 

  254. Fawzi AA, Vo B, Kriwanek R, et al. Asteroid hyalosis in an autopsy population: The University of California at Los Angeles (UCLA) experience. Arch Ophthalmol. 2005;123:486–490.

    PubMed  Google Scholar 

  255. Fazzi E, Rossi M, Signorini S, et al. Leber’s congenital amaurosis: Is there an autistic component? Dev Med Child Neurol. 2007;49:503–507.

    CAS  PubMed  Google Scholar 

  256. Fein-Levy C, Gorlick R, Meyers PA, et al. Ewing’s sarcoma in a patient with congenital optic atrophy. J Pediatr Hematol Oncol. 1998;20:577–579.

    CAS  PubMed  Google Scholar 

  257. Felicio AC, Godeiro-Junior C, Alberto LG. Familial Behr syndrome-like phenotype with autosomal dominant inheritance. Parkinsonism Related Dis. 2008;14:370–372.

    Google Scholar 

  258. Feng X, Pu W, Gao D, et al. Diagnostic potential of mitochondrial DNA assessment in patients with optic neuropathy. Chin Med J (Engl). 2000;113:743–746.

    CAS  Google Scholar 

  259. Ferguson FR, Critchley M. Leber’s optic atrophy and its relationship to the heredo-familial ataxias. J Neurol Psychopathol. 1928;9:120–132.

    Google Scholar 

  260. Fernandez RG, Munoz-Negrete FJ, Garcia-Martin B, et al. Bilateral optic atrophy in Kenny’s syndrome. Acta Ophthalmol Copenh. 1992;70:135–138.

    Google Scholar 

  261. Ferreira RC, Mierau GW, Bateman JB. Conjunctival biopsy in infantile neuroaxonal dystrophy. Am J Ophthalmol. 1997;123:264–266.

    CAS  PubMed  Google Scholar 

  262. Ferrer I, Campistol J, Tobena L, et al. Degenerescence systematisee optico-cochleo-dentelee. J Neurol. 1987;234(6):416–420.

    CAS  PubMed  Google Scholar 

  263. Field MJ, Grattan-Smith P, Piper SM, et al. PEHO and PEHO-like syndromes: Report of five Australian cases. Am J Med Genet. 2003;122A:6–12.

    CAS  PubMed  Google Scholar 

  264. Filiano JJ, Goldenthal MJ, Mamourian AC, et al. Mitochondrial DNA depletion in Leigh syndrome. Pediatr Neurol. 2002;26:239–242.

    PubMed  Google Scholar 

  265. Finger PT. Anti-VEGF Bevacizumab (Avastin) for radiation optic neuropathy. Am J Ophthalmol. 2007;143:335–338.

    CAS  PubMed  Google Scholar 

  266. Fink JK. The hereditary spastic paraplegias: Nine genes and counting. Arch Neurol. 2003;60:1045–1049.

    PubMed  Google Scholar 

  267. Finsterer J, Stollberger C, Kopsa W, et al. Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber’s hereditary optic neuropathy. Can J Cardiol. 2001;17:464–466.

    CAS  PubMed  Google Scholar 

  268. Fletcher WA, Imes RK, Hoyt WF. Chiasmal gliomas: appearance and long-term changes demonstrated by computerized tomography. J Neurosurg. 1986;65(2):154–159.

    CAS  PubMed  Google Scholar 

  269. Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol. 1991;35(5):353–368.

    CAS  PubMed  Google Scholar 

  270. Fournier AV, Damji KF, Epstein DL, et al. Disc excavation in dominant optic atrophy: Differentiation from normal tension glaucoma. Ophthalmology. 2001;108:1595–1602.

    CAS  PubMed  Google Scholar 

  271. Fraioli B, Ferrante L, Celli P. Pituitary adenomas with onset during puberty. Features and treatment. J Neurosurg. 1983;59(4):590–595.

    CAS  Google Scholar 

  272. Francois J. Heredity in Opthalmology. St Louis, MO: CV Mosby; 1961:508–509.

    Google Scholar 

  273. Francois J. Mode d’hérédité des héredo-dégénérescences du nerf Optique. J Genet Hum. 1966;15:147–220.

    CAS  PubMed  Google Scholar 

  274. Francois J. Ocular manifestations in demyelinating disease. Adv Ophthalmol. 1979;39:1–36.

    CAS  PubMed  Google Scholar 

  275. Freeman JW, Cox TA, Batnitzky S, et al. Carniopharyngioma simulating bilateral internal ophthalmoplegia. Arch Neurol. 1980;37:176–177.

    CAS  PubMed  Google Scholar 

  276. Friedberg EC. Xeroderma pigmentosum, Cockayne syndrome, helicases and DNA repair. Cell. 1992;128:1233–1237.

    Google Scholar 

  277. Frisen L, Claesson M. Narrowing of the retinal ar­terioles in descending optic atrophy: a quantitative clinical study. Ophthalmology. 1984;91:1342.

    CAS  PubMed  Google Scholar 

  278. Fukuoka H, Kanda Y, Ohta S, et al. Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. J Hum Genet. 2007;52:510–515.

    PubMed  Google Scholar 

  279. Funalot B, Reynier P, Vighetto A, et al. Leigh-like encephalomyelopathy accompanying Leber’s hereditary optic neuropathy. Ann Neurol. 2002;52:374–377.

    PubMed  Google Scholar 

  280. Galluzzi P, Filosomi G, Vallone IM, et al. MRI of Wolfram syndrome (DIDMOAD). Neuroradiology. 1999;41:729–731.

    CAS  PubMed  Google Scholar 

  281. Gamez J, Montane D, Martorell L, et al. Bilateral optic nerve atrophy in myotonic dystrophy. Am J Ophthalmol. 2001;131:398–400.

    CAS  PubMed  Google Scholar 

  282. Ganesh A, Al-Kindi A, Jain R, et al. The phenotypic spectrum of Baraitser-Winter syndrome: A new case and review of literature. J AAPOS. 2005;9:604–606.

    PubMed  Google Scholar 

  283. Ganesh SK, Sundaram PM, Biswas J, et al. Cataract surgery in sympathetic ophthalmia. J Cataract Refract Surg. 2004;30:2371–2376.

    PubMed  Google Scholar 

  284. García-Silva MT, Matthijs G, Schollen E, et al. Congenital disorder of glycosylation (CDG) type Ie: A new patient. J Inherit Metab Dis. 2004;27:591–600.

    PubMed  Google Scholar 

  285. Garcia-Valenzuela E, Blair NP, Shapiro NJ, et al. Outcome of vitreoretinal surgery and penetrating keratoplasty using temporary keratoprosthesis. Retina. 1999;19:424–429.

    CAS  PubMed  Google Scholar 

  286. Gasch AT, Caruso RC, Kaler SG, et al. Menkes’ syndrome: Ophthalmic findings. Ophthalmology. 2002;109:1477–1483.

    PubMed  Google Scholar 

  287. Gascon GG, Ozand PT, Brismar J. Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations. Brain Dev. 1994;16:94–103.

    PubMed  Google Scholar 

  288. Gascon GG, Ozand PT, Mahdi A, et al. Infanile CNS spongy degeneration - 14 cases: Clinical update. Neurology. 1990;40:1876–1882.

    CAS  PubMed  Google Scholar 

  289. Gaston H. Ophthalmic complications of spina bifida and hydrocephalus. Eye. 1991;5(pt 3):279–290.

    PubMed  Google Scholar 

  290. Gay C, Divry P, Macabeo V, et al. N-acetylaspartic aciduria Clinical, biological and physiopathological study. Arch Fr Pediatr. 1991;48(6):409–413.

    CAS  PubMed  Google Scholar 

  291. Gelber SJ, Heffez DS, Donohoue PA. Pituitary gigantism caused by growth hormone excess from infancy. J Pediatr. 1992;120:931–934.

    CAS  PubMed  Google Scholar 

  292. Geneviève D, Amiel J, Viot G, et al. Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature. Am J Med Genet. 2004;129A:64–68.

    PubMed  Google Scholar 

  293. Georgy BA, Snow RD, Brogdon BG, et al. Neuroradiologic findings in Marinesco-Sjogren syndrome. Am J Neuroradiol. 1998;19:281–283.

    CAS  PubMed  Google Scholar 

  294. Gerber S, Perrault I, Hanein S, et al. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Eur J Hum Genet. 2001;9:561–571.

    CAS  PubMed  Google Scholar 

  295. Ghose S. Optic nerve changes in hydrocephalus. Trans Ophthalmol Soc UK. 1983;103(pt 2):217–220.

    PubMed  Google Scholar 

  296. Gilles EE, McGregor ML, Levy-Clarke G. Retinal hemorrhage asymmetry in inflicted head injury: A clue to pathogenesis? J Pediatr. 2003;143:494–499.

    PubMed  Google Scholar 

  297. Gillis L, Kaye E. Diagnosis and management of mitochondrial diseases. Pediatr Clin North Am. 2002;49:203–219.

    PubMed  Google Scholar 

  298. Giulano F, Bannwarth S, Monnot S, et al. Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat. 2005;25:99–100.

    Google Scholar 

  299. Gnanaraj L, Skibell BC, Coret-Simon J, et al. Massive congenital orbital teratoma. Ophthal Plast Reconstr Surg. 2005;21:445–447.

    PubMed  Google Scholar 

  300. Goddey NO, Oladokun OA, Andy E, et al. Eye lesions and onchocerciasis in a rural farm settlement in Delta State, Nigeria. J Commun Dis. 2001;33:185–191.

    CAS  PubMed  Google Scholar 

  301. Goebel H. Symposium: The neuronal ceroid-lipofuscinoses (NCL)-a group of lysosomal disorders come of age. Introduction. Brain Pathol. 2004;14:59–60.

    Google Scholar 

  302. Goebel H, Wisniewski K. Symposium: The neuronal ceroid-lipofuscinoses (NCL): A group of lysosomal storage diseases come of age Current state of clinical and morphologicial features in human NCL. Brain Pathol. 2004;14:61–69.

    CAS  PubMed  Google Scholar 

  303. Goizet C, Espil-Taris C, Husson M, et al. A patient with hydraencephaly and PEHO-like dysmorphic features. Ann Genet. 2003;461:25–28.

    Google Scholar 

  304. Goldberg MF, Custis PH. Retinal and other mani­festations of incontinenti pigmenti (Bloch-Sulzberger syndrome). Ophthalmology. 1993;100:1645–1654.

    CAS  PubMed  Google Scholar 

  305. Goldberg MF, Scott CI, McKusick VA. Hydrocephalus and papilledema in the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI). Am J Ophthalmol. 1970;69:969–975.

    CAS  PubMed  Google Scholar 

  306. Goldenberg-Cohen N, Miller NR, Repka MX. Traumatic optic neuropathy in children and adolescents. J AAPOS. 2004;8:20–27.

    PubMed  Google Scholar 

  307. Good WV, Hoyt CS, Lambert SR. Optic nerve atrophy in children with hypoxia. Invest Ophthalmol Vis Sci. 1987;28(Suppl):309.

    Google Scholar 

  308. Goodman SJ, Rosenbaum AL, Hasso A, et al. Large optic nerve glioma with normal vision. Arch Ophthalmol. 1975;93:991–995.

    CAS  PubMed  Google Scholar 

  309. Gordon N. Canavan disease: A review of recent developments. Eur J Paediatr Neurol. 2001;5:65–69.

    CAS  PubMed  Google Scholar 

  310. Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden–Spatz syndrome). Eur J Paediatr Neurol. 2002;6:243–247.

    PubMed  Google Scholar 

  311. Gotah Y, Machida S, Tazawa Y. Selective loss of the photopic negative response in patients with primary optic nerve atrophy. Arch Ophthalmol. 2004;122:341–346.

    Google Scholar 

  312. Gourie-Devi M, Nalini A. Madras motor neuron disease variant: Clinical features of seven patients. J Neurol Sci. 2003;209:13–17.

    CAS  PubMed  Google Scholar 

  313. Gouw LG, Digre KB, Harris CP, et al. Autosomal dominant cerebellar ataxia with retinal degeneration. A clinical and ocular histopathologic study. Neurology. 1994;44:1441.

    CAS  PubMed  Google Scholar 

  314. Gouw LG, Kaplan CD, Haines JH, et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1997;17:65.

    Google Scholar 

  315. Graham JM Jr, Anyane-Yeboa K, Raams A, et al. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene with prenatal diagnosis in a triplet pregnancy. Am J Hum Genet. 2001;69:291–300.

    CAS  PubMed  Google Scholar 

  316. Graham JM Jr, Hennekam R, Dobyns WB, et al. MICRO syndrome: An entity distinct from COFS syndrome. Am J Med Genet. 2004;30:235–245.

    Google Scholar 

  317. Gränse L, Bergstrand I, Thiselton D, et al. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation of the OPA1 gene. Ophthalmic Genet. 2003;24:233–245.

    PubMed  Google Scholar 

  318. Grant WM. Toxicology of the eye. 3rd ed. Springfield, IL: Charles C. Thomas; 1986:1048–1049.

    Google Scholar 

  319. Grattan-Smith PJ, Healey S, Grigg JR, et al. Spinocerebellar ataxia type 7: A distinctive form of autosomal dominant cerebellar ataxia with retinopathy and marked genetic anticipation. J Paediatr Child Health. 2001;37:81–84.

    CAS  PubMed  Google Scholar 

  320. Gray TL, Casey T, Selva D, et al. Ophthalmologic sequelae of Crouzon syndrome. Ophthalmology. 2005;112:1129–1134.

    PubMed  Google Scholar 

  321. Grazina MM, Diogo LM, Garcia PC. Atypical presentation of Leber’s hereditary optic neuropathy associated to mtDNA 11778G>A point mutation: A case report. Eur J Paediatr Neurol. 2007;11:115–118.

    PubMed  Google Scholar 

  322. Greven CM, Collins AS, Slusher MM, et al. Visual results, prognostic indicators, and posterior segment findings following surgery for cataract/lens subluxation-dislocation secondary to ocular contusion injuries. Retina. 2002;22:575–580.

    PubMed  Google Scholar 

  323. Gropman AL. Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Neurosci Rep. 2001;1:185–194.

    CAS  PubMed  Google Scholar 

  324. Gropman AL. The neurological presentations of childhood and adult mitochondrial disease: Established syndromes and phenotypic variations. Mitochondrion. 2004;4:503–520.

    CAS  PubMed  Google Scholar 

  325. Gropman A, Chen TJ, Perng CL, et al. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet. 2004;124A:377–382.

    PubMed  Google Scholar 

  326. Grosse-Aldenhovel HB, Gallenkamp U, et al. Juvenile onset diabetes mellitus, central diabetes in­sipidus and optic atrophy (Wolfram syndrome) - neurological findings and prognostic implications. Neuropediatrics. 1991;22:103–106.

    CAS  PubMed  Google Scholar 

  327. Gücüyener K, Ozgül K, Paternotte C, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay in two unrelated Turkish families. Neuropediatrics. 2001;32:142–146.

    PubMed  Google Scholar 

  328. Gupta S, Ghose S, Rohatgi M, et al. The optic nerve in children with craniosynostosis. A pre and post surgical evaluation. Doc Ophthalmol. 1993;83:271–278.

    CAS  PubMed  Google Scholar 

  329. Gupta DK, Suri A, Mahapatra AK, et al. Intracranial Rosai-Dorfman disease in a child mimicking bilateral giant petroclival meningiomas: A case report and review of literature. Childs Nerv Syst. 2006;22:1194–1200.

    PubMed  Google Scholar 

  330. Gustayson KH, Anneren G, Malmgren H, et al. New X-linked syndrome with severe mental retar­dation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. Am J Med Genet. 1993;45:654–658.

    Google Scholar 

  331. Guy J, Mancuso A, Beck R, et al. Radiation-induced optic neuropathy: a magnetic resonance imaging study. J Neurosurg. 1991;74:426–432.

    CAS  PubMed  Google Scholar 

  332. Haberland C, Brunngraber EG, Witting LA. Infantile neuroaxonal dystrophy. Arch Neurol. 1972;66:391–402.

    Google Scholar 

  333. Haddad R, Font RL, Friendly DS. Cerebro-hepato-renal syndrome of Zellweger. Ocular histopathologic findings. Arch Ophthalmol. 1976;94:1927–1930.

    CAS  PubMed  Google Scholar 

  334. Haddad MA, Lobato FJ, Sampaio MW, et al. Pediatric and adolescent population with visual impairment: study of 385 cases. Clinics. 2006;61:239–246.

    PubMed  Google Scholar 

  335. Haddad MA, Sei M, Sampaio MW, Kara-José N. Causes of visual impairment in children: A study of 3, 210 cases. J Pediatr Ophthalmol Strabis. 2007;44:232–240.

    Google Scholar 

  336. Haddad MA, Sei M, Sampaio MW, et al. Causes of visual impairment in children: A study of 3, 210 cases. J Pediatr Ophthalmol Strabismus. 2007;44:232–240.

    PubMed  Google Scholar 

  337. Hadidy AM, Jarrah NS, Al-Till MI, et al. Radiological findings in Wolfram syndrome. Saudi Med J. 2004;25:638–641.

    PubMed  Google Scholar 

  338. Haftel LT, Lev D, Barash V, et al. Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder. J Child Neurol. 2000;15:386–390.

    CAS  PubMed  Google Scholar 

  339. Hagemoser K, Weinstein J, Bresnick G, et al. Optic atrophy, hearing loss, and peripheral neuropathy. Am J Med Genet. 1989;33(1):61–65.

    CAS  PubMed  Google Scholar 

  340. Haines SJ, Erickson DL, Wirtschafter JD. Optic nerve decompression for osteopetrosis in early childhood. Neurosurgery. 1988;23:470–475.

    CAS  PubMed  Google Scholar 

  341. Haji Muhammad Ismail Hussain I, Loh WF, Sofiah A. Childhood cerebral lupus in an Oriental population. Brain Dev. 1999;21:229–235.

    CAS  PubMed  Google Scholar 

  342. Haltia M, Somer M. Infantile cerebello-optic atrophy. Neuropatho­logy of the progressive encephalopathy syndrome with edema, hypsarrhyth­mia and optic atrophy (the PEHO syndrome). Acta Neuropathol Berl. 1993;85(3):241–247.

    CAS  PubMed  Google Scholar 

  343. Hamed LM. Retrograde transsynaptic degeneration of the retinogeniculate pathway after postnatal cerebral damage. Ophthalmology. 1994;101(suppl):134. Abstract.

    Google Scholar 

  344. Hamed LM, Maria B, Quisling R, et al. Suprasellar lesions of maldevelopmental origin in Klinefelter’s syndrome. J Clin Neuroophthalmol. 1992;12(3):192–197.

    CAS  PubMed  Google Scholar 

  345. Hamed LM, Purvin V, Rosenberg M. Recurrent anterior ischemic optic neuropathy in young adults. J Clin Neuroophthalmol. 1988;8:239–246.

    CAS  PubMed  Google Scholar 

  346. Hamid R, Sarkar S, Hossain MA, et al. Clinical picture of craniopharyngioma in childhood. Mymensingh Med J. 2007;16:123–126.

    CAS  PubMed  Google Scholar 

  347. Hamilton SR. Neuro-ophthalmologic manifestations of the spinocerebellar degenerative disorders. In: Proceedings of the North American Neuro-ophthalmology Society. Snowmass, Colo., March 14-18, 1999:195–203.

    Google Scholar 

  348. Hamilton SR, Chatrian GE, Mills RP, et al. Cone dysfunction in a subgroup of patients with autosomal dominant cerebellar ataxia. Arch Ophthalmol. 1990;108:551.

    CAS  PubMed  Google Scholar 

  349. Hammerstein W, Jurgens H, Gobel U. Retinal degeneration and embryonal rhabdomyosarcoma of the thorax. Fortschr Ophthalmol. 1991;88:463–465.

    CAS  PubMed  Google Scholar 

  350. Hammond EJ, Wilder BJ. Evoked potentials in olivopontocerebellar atrophy. Arch Neurol. 1983;40:366–369.

    CAS  PubMed  Google Scholar 

  351. Han J, Thompson-Lowrey AJ, Reiss A, et al. OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. Genet Med. 2006;8:217–225.

    CAS  PubMed  Google Scholar 

  352. Hanemann CO, Hefter H, Schlaug G, et al. Characterization of basal ganglia dysfunction in Leber “plus” disease. J Neurol. 1996;243:297–300.

    CAS  PubMed  Google Scholar 

  353. Hansen L, Eiberg H, Barrett T, et al. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families: four new mutations identified. Eur J Hum Genet. 2005;13:1275–1284.

    CAS  PubMed  Google Scholar 

  354. Hansen RM, Eklund SE, Benador IY, et al. Retinal degeneration in children: Dark adapted visual threshold and arteriolar diameter. Vision Res. 2008;48:325–331.

    PubMed  Google Scholar 

  355. Hansen E, Flage T, Rosenberg T, et al. Visual im­pairment in Nordic children. III: Diagnoses. Acta Ophthalmol Copenh. 1992;70:597–604.

    CAS  PubMed  Google Scholar 

  356. Harding AE. The clinical features and classification of late onset autosomal dominant cerebellar ataxias: A study of 11 families, including descendants of the “Drew family of Walworth”. Brain. 1982;105:1–28.

    CAS  PubMed  Google Scholar 

  357. Harding AE. The Hereditary Ataxias and Related Disorders. London: Churchill Livingstone; 1984.

    Google Scholar 

  358. Harding GF, Wild JM, Robertson KA, et al. Separating the retinal and electrophysiologic effects of vigabatrin: treatment versus field loss. Neurology. 2000;55:347–352.

    CAS  PubMed  Google Scholar 

  359. Kardon R, Kawasaki A, Miller NR. Origin of the relative afferent pupillary defect in optic tract lesions. Ophthalmology. 2006;113(8):1345–1353.

    PubMed  Google Scholar 

  360. Hardy C, Khanim F, Torres R, et al. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. Am J Hum Genet. 1999;65:1279–1290.

    CAS  PubMed  Google Scholar 

  361. Harley RD, Huang NM, Macri CH, et al. Optic neuritis and optic atrophy following chloramphenicol in cystic fibrosis patients. Transactions Am Acad Ophthalmol Otollaryngol. 1970;74:1011–1031.

    CAS  Google Scholar 

  362. Harrison DA, Mullaney PB, Mesfer SA, et al. Management of ophthalmic complications of homocystinuria. Ophthalmology. 1998;105:1886–1890.

    CAS  PubMed  Google Scholar 

  363. Hayasaka S, Yamaguchi K, Mizuno K, et al. Ocular findings in childhood lactic acidosis. Arch Ophthalmol. 1986;104:1656–1658.

    CAS  PubMed  Google Scholar 

  364. Hayashi N, Geraghty MT, Green WR. Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh’s syndrome. Ophthalmology. 2000;107:1397–1402.

    CAS  PubMed  Google Scholar 

  365. Heher KL, Johns DR. A maculopathy associated with the 15257 mitochondrial DNA mutation. Arch Ophthalmol. 1993;111:1495–1498.

    CAS  PubMed  Google Scholar 

  366. Herman GE. Disorders of cholesterol biosynthesis: Prototypic metabolic malformation syndromes. Hum Mol Genet. 2003;12(Suppl 1):R75–88.

    CAS  PubMed  Google Scholar 

  367. Higgins JJ, Nee LE, Vasconcelos O, et al. Mutations in American families with spinocerebellar ataxia (SCA) type 3: SCA3 is allelic to Machado-Joseph disease. Neurology. 1996;46:208–213.

    CAS  PubMed  Google Scholar 

  368. Hirai T, Ito Y, Arai M, et al. Loss of stereopsis with optic chiasmal lesions and stereoscopic tests as a differential test. Ophthalmology. 2002;209:1692–1702.

    Google Scholar 

  369. Ho G, Walter JH, Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. J Inherit Med Dis. 2008, Epub ahead of print.

    Google Scholar 

  370. Hofmann S, Bezold R, Jaksch M, et al. Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are assocaited with distince mitochondrial haplotypes. Genomics. 1997;39:8–18.

    CAS  PubMed  Google Scholar 

  371. Holmberg M, Johansson J, Forggren L, et al. Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet. 1995;10:89.

    Google Scholar 

  372. Houlden H, Smith S, DeCarvalho M, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain. 2002;125:2681–2690.

    PubMed  Google Scholar 

  373. Howell N. Mitochondrial gene mutations and human disease: a prolegomenon. Am J Hum Genet. 1994;55:219–224.

    CAS  PubMed  Google Scholar 

  374. Howell N, Halvorson S, Burns J, et al. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am J Hum Genet. 1993;53:959–963. Letter.

    CAS  PubMed  Google Scholar 

  375. Hoyt WF. Ophthalmoscopy of the retinal nerve fibre layer in neuro-ophthalmologic diagnosis. Aust J Ophthalmol. 1976;4:14.

    Google Scholar 

  376. Hoyt CS. Autosomal dominant optic atrophy: a spectrum of disability. Ophthalmology. 1980;87:245.

    CAS  PubMed  Google Scholar 

  377. Hoyt CS, Billson FA. Visual loss in osteopetrosis. Am J Dis Child. 1979;133:955–958.

    CAS  PubMed  Google Scholar 

  378. Hoyt CS, Billson FA. Optic neuropathy in ketogenic diet. Br J Ophthalmol. 1979;63(3):191–194.

    CAS  PubMed  Google Scholar 

  379. Hoyt WF, Fletcher WA, Imes RK. Chiasmal gliomas. Appearance and long-term changes demonstrated by computerized tomography. Prog Exp Tumor Res. 1987;30:113–121.

    CAS  PubMed  Google Scholar 

  380. Hoyt CS, Good WV. Do we really understand the difference between optic nerve hypoplasia and atrophy? Eye. 1992;6(pt 2):201–204.

    PubMed  Google Scholar 

  381. Hoyt WF, Imes RK. Optic gliomas of neurofibro­matosis-1 (NF-1): Contemporary perspectives. In: Ishibashi Y, Hori Y, eds. Tuberous Sclerosis and Neurofibromatosis: Epidemiology, Pathophysiology, Biology and Management. Amsterdam: Ex­cerpta Medica; 1990:239–246.

    Google Scholar 

  382. Hoyt WF, Rios-Montenegro EN, Behrens MM, et al. Homonymous hemioptic hypoplasia. Fundus­copic features in standard and red-free illumination in three patients with congenital hemiplegia. Br J Ophthalmol. 1972;56:537–545.

    CAS  PubMed  Google Scholar 

  383. Huber A. Genetic diseases of vision. Curr Opin Neurol. 1994;7:65–68.

    CAS  PubMed  Google Scholar 

  384. Hudson G, Amati-Bonneau P, Blakely EL, et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance. Brain. 2008;131(Pt 2):329–337.

    PubMed  Google Scholar 

  385. Hudson G, Keers S, Yu Wai Man P, et al. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigress. Am J Hum Genet. 2006;78:564–574.

    Google Scholar 

  386. Huisman TA, Klein A, Werner B. Serial MR imaging, diffusion tensor imaging, and MR spectroscopic findings in a child with progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome. AJNR Am J Neuroradiol. 2006;27:1555–1558.

    CAS  PubMed  Google Scholar 

  387. Hull BM, Thompson DA. A review of the clinical applications of the pattern electroretinogram. Ophthalmic Physiol Opt. 1989;9:143–152.

    CAS  PubMed  Google Scholar 

  388. Huna-Baron R, Lesser RL, Warren FA, et al. Infantile cerebral aneurysms with visual pathway compression. Pediatr Neurosurg. 1999;31:322–325.

    CAS  PubMed  Google Scholar 

  389. Hung HL, Kao LY, Huang CC. Clinical features of Leber’s hereditary optic neuropathy with the 11778 mitochondrial DNA mutation in Taiwanese patients. Chang Gung Med J. 2003;26:41–47.

    PubMed  Google Scholar 

  390. Huo R, Burden SK, Hoyt CS, et al. Chronic cortical visual impairment in children: Aetiology, prognosis, and associated neurological deficits. Br J Ophthalmol. 1999;83:670–675.

    CAS  PubMed  Google Scholar 

  391. Huoponen K, Lamminen T, Juvonen V, et al. The spectrum of mitochondrial DNA mutations in fam­ilies with Leber hereditary optic neuroretinopathy. Hum Genet. 1993;92:379–384.

    CAS  PubMed  Google Scholar 

  392. Hur DJ, Raymond GV, Kahler SG, et al. A novel MGP mutation in a cosanguinous family: Review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet. 2006;140:1487–1489.

    Google Scholar 

  393. Hwang JM, Kim IO, Wang KC. Complete visual recovery in osteopetrosis by early optic nerve decompression. Pediatr Neurosurg. 2000;33:328–332.

    CAS  PubMed  Google Scholar 

  394. Hwang TN, McCulley TJ. A case of bilateral optic atrophy. In: Proceedings of the Frank B. Walsh Session. Feb. 11, 2007, Snowbird, UT.

    Google Scholar 

  395. Ianchulev T, Kolin T, Moseley K, et al. Optic nerve atrophy in propionic acidemia. Ophthalmology. 2003;110:1850–1854.

    PubMed  Google Scholar 

  396. Ichiyama T, Hayaski T, Unita T. Two possible cases of Alexander disease. Multimodal evoked potentials and MRI. Brain Dev. 1993;15:153–156.

    CAS  PubMed  Google Scholar 

  397. Ilker SS, Ozturk F, Kurt E, et al. Ophthalmic findings in GAPO syndrome. Jpn J Ophthalmol. 1999;43:48–52.

    CAS  PubMed  Google Scholar 

  398. Imes RK, Hoyt WF. Childhood chiasmal gliomas: Update on the fate of patients in the 1969 study. Br J Ophthalmol. 1986;70:179–182.

    CAS  PubMed  Google Scholar 

  399. Imes RK, Hoyt WF. Magnetic resonance imaging signs of optic nerve gliomas in neurofibromatosis 1. Am J Ophthalmol. 1991;111:729–734.

    CAS  PubMed  Google Scholar 

  400. Ingelse J, Steele G. Characteristics of the pediatric/adolescent low-vision population at the Illinois School for the Visually Impaired. Optometry. 2001;72:761–766.

    CAS  PubMed  Google Scholar 

  401. Inoue H, Tanizawa Y, Wasson J, et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet. 1998;20:143–148.

    CAS  PubMed  Google Scholar 

  402. Ishikawa K, Funayama T, Ohde H, et al. Genetic variants of TP53 and EPHX1 in Leber’s hereditary optic neuropathy and their relationship to age at onset. Jpn J Ophthalmol. 2005;49:121–126.

    CAS  PubMed  Google Scholar 

  403. Ishikawa T, Ito T, Shoji E, et al. Compressive optic nerve atrophy resulting from a distorted internal carotid artery. Pediatr Neurol. 2000;22:322–324.

    CAS  PubMed  Google Scholar 

  404. Ito S, Sakakibara R, Hattori T. Wolfram syndrome presenting with marked brain MR imaging abnormalities with few neurologic abnormalities. Am J Neuroradiol. 2007;28:305–306.

    CAS  PubMed  Google Scholar 

  405. Iwashita H, Inoue N, Araki S, et al. Optic atrophy, neural deafness, and distal neurogenic amyotrophy. Report of a family with two affected siblings. Arch Neurol. 1970;22:357–364.

    CAS  PubMed  Google Scholar 

  406. Jacobson DM. Pupillary responses to dilute pilo-carpine in preganglionic 3rd nerve disorders. Neurology. 1990;40:804–808.

    CAS  PubMed  Google Scholar 

  407. Jacobson SG, Aleman TS, Cideciyan AV, et al. Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci USA. 2007;104:15123–15128.

    CAS  PubMed  Google Scholar 

  408. Jacobson L, Hellström A, Flodmark O. Large cups in normal-sized optic discs. Arch Ophthalmol. 1997;115:1263–1269.

    CAS  PubMed  Google Scholar 

  409. Jacobson DM, Stone EM. Difficulty differentiating Leber’s from dominant optic neuropathy in a patient with remote visual loss. J Clin Neuroophthalmol. 1991;11:152–157.

    CAS  PubMed  Google Scholar 

  410. Jakobiec FA, Depot MJ, Kennerdell JS, et al. Combined clinical and computed tomographic diagnosis of orbital glioma and meningioma. Ophthalmology. 1984;91:137–155.

    CAS  PubMed  Google Scholar 

  411. Jampel RS, Okazaki H, Bernstein H. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthalmol. 1961;66:123.

    Google Scholar 

  412. Jan JE, Robinson GC, Kinnis C, et al. Blindness due to optic nerve atrophy and hypoplasia in chil­dren: an epidemiology study (1944-1974). Dev Med Child Neurol. 1977;19:353.

    CAS  PubMed  Google Scholar 

  413. Jensen PK, Reske-Nielsen E, Hein-Sorenson O, et al. Syndrome of opticoacoustic nerve atrophy with dementia. Am J Med Genet. 1987;28:517–518.

    CAS  PubMed  Google Scholar 

  414. Jensen ME, Sawyer RW, Braun IF, et al. MR imaging appearance of childhood adrenoleukodystrophy with auditory, visual, and motor pathway involvement. RadioGraphics. 1990;10:53–66.

    CAS  PubMed  Google Scholar 

  415. Ji YH, Park HJ, Oh SY. Clinical effect of low vision aids. Korean J Ophthalmol. 1999;13:52–56.

    CAS  PubMed  Google Scholar 

  416. Jia X, Li S, Xiao X, et al. Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy. J Hum Genet. 2006;51:851–856.

    CAS  PubMed  Google Scholar 

  417. Johns DR, Heher KL, Miller NR, et al. Leber’s hereditary optic neuropathy: clinical manifesta­tions of the 14484 mutation. Arch Ophthalmol. 1993;111:495–498.

    CAS  PubMed  Google Scholar 

  418. Johns DR, Neufeld MJ. Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON). Am J Hum Genet. 1993;53:916–920.

    CAS  PubMed  Google Scholar 

  419. Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy. Arch Ophthalmol. 1992;110:1577–1581.

    CAS  PubMed  Google Scholar 

  420. Johns DR, Smith KH, Miller NR, et al. Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch Ophthalmol. 1993;111:1491–1494.

    CAS  PubMed  Google Scholar 

  421. Johns DR, Smith KH, Savino PJ, et al. Leber’s hereditary optic neuropathy. Clinical manifestations of the 15257 mutation. Ophthalmology. 1993;100:981–986.

    CAS  PubMed  Google Scholar 

  422. Johnson AB. Alexander disease: A review and the gene. Int J Dev Neurosci. 2002;20:391–394.

    CAS  PubMed  Google Scholar 

  423. Johnston PB, Gastor RN, Smith VC, et al. A clinicopathologic study of autosomal dominant optic atrophy. Am J Ophthalmol. 1975;88:868–875.

    Google Scholar 

  424. Johnston RL, Seller MJ, Behnam JT, et al. Dominant optic atrophy: Refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology. 1999;106:123–128.

    CAS  PubMed  Google Scholar 

  425. Jonas JB, Bergua A, Schmitz-Valckenberg P, et al. Ranking of optic disc variables for detection of glaucomatous optic nerve damage. Invest Ophthalmol Vis Sci. 2000;41:1764–1773.

    CAS  PubMed  Google Scholar 

  426. Jonas JB, Budde WM, Stroux A, et al. Iris colour, optic disc dimensions, degree and progression of glaucomatous optic nerve damage. Clin Experiment Ophthalmol. 2006;34:654–660.

    PubMed  Google Scholar 

  427. Jonas JB, Stroux A, Martus P, et al. Keratometry, optic disc dimensions, and degree and progression of glaucomatous optic nerve damage. J Glaucoma.. 2006;15:206–212.

    PubMed  Google Scholar 

  428. Jones M, Drut R, Valencia M, et al. Empty sella syndrome, panhypopituitarism, and diabetes insipidus. Fetal Pediatr Pathol. 2005;24:191–204.

    PubMed  Google Scholar 

  429. Junck L, Fink JK. Machado-Joseph disease and SCA3: The genotype meets the phenotypes. Neurology. 1996;46:4–8.

    CAS  PubMed  Google Scholar 

  430. Jurkiewicz E, Mierzewska H, Bekiesińska-Figatowska M, et al. MRI of a family with leukoencephalypathy with vanishing white matter. Pediatr Radiol. 2005;35:1027–1030.

    PubMed  Google Scholar 

  431. Kalman B, Alder H. Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis? Acta Neurol Scand. 1998;98:232–237.

    CAS  PubMed  Google Scholar 

  432. Kalviainen R, Nousiainen I. Visual field defects with vigabatrin: epidemiology and therapeutic implications. CNS Drugs. 2001;15:217–230.

    CAS  PubMed  Google Scholar 

  433. Kaplan PW, Kruse B, Tusa RJ, et al. Visual system abnormalities in adrenomyeloneuropathy. Ann Neurol. 1995;37:550–552.

    CAS  PubMed  Google Scholar 

  434. Käsmann-Kellner B, Jurin-Bunte B, Ruprecht KW. Incontentia pigmenti (Bloch-Sulzberger syndrome): Case report and differential diagnosis-related dermato-ocular syndromes. Ophthalmologica. 1999;213:63–69.

    PubMed  Google Scholar 

  435. Käsmann-Kellner B, Weindler J, Pfau B, et al. Ocular changes in mucopolysaccharidosis IV A (Morquio syndrome) and long-term results of perforating keratoplasty. Ophthalmologica. 1999;213:200–205.

    PubMed  Google Scholar 

  436. Katz BJ, Zhao Y, Warner JE, et al. A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. Am J Hum Genet. 2006;140A:2207–2211.

    Google Scholar 

  437. Kaul R, Gao GP, Aloya M, et al. Canavan disease: Mutations among Jewish and non-Jewish patients. Am J Hum Genet. 1994;55:34–41.

    CAS  PubMed  Google Scholar 

  438. Kaye LC, Kaye SB, Lagnado R, et al. Cerebral arteriovenous malformation presenting as visual deterioration in a child. Dev Med Child Neurol. 2000;42:704–706.

    CAS  PubMed  Google Scholar 

  439. Kazek B, Jamroz E, Gencik M, et al. A novel PANK2 gene mutation: Clinical and molecular characteristics of patients short communication. J Child Neurol. 2007;22:1256–1259.

    PubMed  Google Scholar 

  440. Keltner JL, Thirkill CE. The 22-kDa antigen in optic nerve and retinal diseases. J Neuroopthalmol. 1999;19:71–83.

    CAS  Google Scholar 

  441. Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR Am J Neuroradiol. 1992;13:621–653.

    CAS  PubMed  Google Scholar 

  442. Kenyon KR. Ocular manifestations and pathology of systemic mucopolysaccharidoses. Birth Defects. 1976;XII:133–153.

    Google Scholar 

  443. Kerrison JB, Arnould VJ, Ferraz Sallum JM, et al. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999;117:805–810.

    CAS  PubMed  Google Scholar 

  444. Kerrison JB, Miller NR, Hsu F, et al. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am J Ophthalmol. 2000;130:803–812.

    CAS  PubMed  Google Scholar 

  445. Khaliq S, Abid A, Hameed A, et al. Mutation screening of Pakistani families with congenital eye disorders. Exp Eye Res. 2003;76:343–348.

    CAS  PubMed  Google Scholar 

  446. Khan RI, O’Keefe M, Kenny D, et al. Changing pattern of childhood blindness. Ir Med J. 2007;100:458–461.

    CAS  PubMed  Google Scholar 

  447. Khodadoust AA, Ziai M, Biggs SL. Optic disc in normal newborns. Am J Ophthalmol. 1968;66:502–504.

    CAS  PubMed  Google Scholar 

  448. Khong JJ, Anderson P, Gray TL, et al. Ophthalmic findings in Apert syndrome prior to craniofacial surgery. Am J Ophthalmol. 2006;142:328–330.

    PubMed  Google Scholar 

  449. Khong JJ, Anderson P, Gray TL, et al. Ophthalmic findings in Apert’s syndrome after craniofacial surgery: twenty-nine years’ experience. Ophthalmology. 2006;133:347–352.

    Google Scholar 

  450. Kim TW, Hwang JM. Stratus OCT in dominant optic atrophy: Features differentiating it from glaucoma. J Glaucoma. 2007;16:655–658.

    PubMed  Google Scholar 

  451. Kim JY, Hwang JM, Ko HS, et al. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology. 2005;64:966–972.

    CAS  PubMed  Google Scholar 

  452. Kim JY, Hwang JM, Park SS. Mitochondrial DNa C4171A/ND1 is a novel primary causative mutation of Leber’s hereditary optic neuropathy with a good prognosis. Ann Neurol. 2002;51:630–634.

    CAS  PubMed  Google Scholar 

  453. Kim JW, Hills WL, Rizzo JF, et al. Ischemic optic neuropathy following spine surgery in a 16-year-old patient and a ten-year-old patinet. J Neuroophthalmol 2006;26(1):30–33.

    PubMed  Google Scholar 

  454. Kim CH, Oh DE, Kim YD. Bilateral visual loss in craniodiaphysial dysplasia. Am J Ophthalmol. 2006;141:398–399.

    PubMed  Google Scholar 

  455. Kim I, Ohnishi A, Kuroiwa Y. Three cases of Char­cot-Marie-Tooth disease with neural deafness: the classification and sural nerve pathology. Rinsho Shinkeigaku. 1980;20:264–270.

    CAS  PubMed  Google Scholar 

  456. Kimber J, McLean BN, Prevatt M, et al. Allgrove or 4 “A” syndrome: An autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry. 2003;74:654–657.

    CAS  PubMed  Google Scholar 

  457. Kinder RS, Howard GM. Seesaw nystagmus. Am J Dis Child. 1963;106:331–332.

    CAS  PubMed  Google Scholar 

  458. King KM, Cronin C. Ocular findings in premature infants with grade IV intraventricular hemorrhage. J Pediatr Ophthalmol Strabismus. 1993;30:84–87.

    CAS  PubMed  Google Scholar 

  459. Kinjo S, Takemoto M, Miyako K, et al. Two cases of Allgrove syndrome with mutations in the AAAS gene. Endocr J. 2004;51:473–477.

    PubMed  Google Scholar 

  460. Kinsley BT, Firth RG. The Wolfram syndrome: A primary neurodegenerative disorder with lethal potential. Ir Med J. 1992;85:34–36.

    CAS  PubMed  Google Scholar 

  461. Kiratli H, Bilgiç S. Spontaneous regression of retinal astrocystic hamartoma in a patient with tuberous sclerosis. Am J Ophthalmol. 2002;133:715–716.

    PubMed  Google Scholar 

  462. Kjer P. Hereditary infantile optic atrophy with dominant transmission (preliminary report). Dan Med Bull. 1956;3:135–141.

    CAS  PubMed  Google Scholar 

  463. Kjer P. Infantile optic atrophy with dominant mode of inheritance. A clinical and genetic study of 19 Dutch families. Acta Ophthalmol. 1959;164:1–147.

    CAS  Google Scholar 

  464. Kjer P. Hereditary optic atrophies. The 1st Annual Hearst Lecture, presented at the 18th Annual Frederick C. Cordes Eye Society Meeting, University of California, San Francisco, CA, April 23, 1966.

    Google Scholar 

  465. Kjer B, Eiberg H, Kjer B, et al. Dominant optic atroaphy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996;74:3–7.

    CAS  PubMed  Google Scholar 

  466. Kjer P, Jensen OA, Klinken L. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol Copenh. 1983;61(2):300–312.

    CAS  PubMed  Google Scholar 

  467. Klein A, Schmitt B, Boltshauser E. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child. Eur J Paediatr Neurol. 2004;8:317–321.

    PubMed  Google Scholar 

  468. Kleta R, Skovby F, Christensen E, et al. 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: Clinical and molecular findings. Mol Genet Metab. 2002;76:201–206.

    CAS  PubMed  Google Scholar 

  469. Kline LB, Glaser JS. Dominant optic atrophy: the clinical profile. Arch Ophthalmol. 1979;97:1680–1686.

    CAS  PubMed  Google Scholar 

  470. Kobayashi K, Ohno-Matsui K, Kojima A, et al. Fundus characteristics of high myopia in children. Jpn J Ophthalmol. 2005;49:306–311.

    PubMed  Google Scholar 

  471. Kocur I, Resnikoff S. Visual impairment and blindness in Europe and their prevention. Br J Ophthalmol. 2002;86:716–722.

    CAS  PubMed  Google Scholar 

  472. Koeppen AH, Robitaille Y. Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol. 2002;61:747–759.

    PubMed  Google Scholar 

  473. Kotb AA, Hammouda EF, Tabbara KF. Childhood blindness at a school for the blind in Riyadh, Saudi Arabia. Ophthalmic Epidemiol. 2006;13:1–5.

    PubMed  Google Scholar 

  474. Koul R, Chacko A, Ganesh A, et al. Vigabatrin associated retinal dysfunction in children with epilepsy. Arch Dis Child. 2001;85:469–473.

    CAS  PubMed  Google Scholar 

  475. Krägeloh-Mann I, Grodd W, Niemann G, et al. Assessment and therapy monitoring of Leigh disease by MRI and proton spectroscopy. Pediatr Neurol. 1992;8:60–64.

    PubMed  Google Scholar 

  476. Krägeloh-Mann I, Toft P, Lunding J, et al. Brain lesions in preterms: Origins, consequences and compensation. Acta Paediatr. 1999;88:897–908.

    PubMed  Google Scholar 

  477. Krauss GL, Johnson MA, Miller NR. Vigabatrin-associagated retinal cone system dysfunction: Electroretinogram and ophthalmologic findings. Neurology. 1998;50:614–618.

    CAS  PubMed  Google Scholar 

  478. Kretzer FL, Hittner HM, Mehta RS. Ocular manifestations of the Smith-Lemli-Opitz syndrome. Arch Ophthalmol. 1981;99:2000–2006.

    CAS  PubMed  Google Scholar 

  479. Kronenberg A, Blei F, Ceisler E, et al. Ocular and systemic manifestations of PHACES (Posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects and coarctation of the aorta, eye abnormalities, and sternal abnormalities or ventral developmental defects) syndrome. J AAPOS. 2005;9:169–173.

    PubMed  Google Scholar 

  480. Krumpaszky HG, Dietz K, Mickler A, et al. Mortality in blind subjects: A population-based study on social security files from Baden-Württemberg. Ophthalmologica. 1999;213:48–53.

    CAS  PubMed  Google Scholar 

  481. Krumpaszky HG, Lüdtke R, Mickler A, et al. Blindness incidence in Germany: A population-based study from Württemberg-Hohenzollern. Ophthalmologica. 1992;213:176–182.

    Google Scholar 

  482. Kumar R, Singh SN, Kohli N. A diagnostic rule for tuberculous meningitis. Arch Dis Child. 1999;81:221–224.

    CAS  PubMed  Google Scholar 

  483. Kurian MA, Morgan NV, MacPherson L, et al. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology. 2008;70:1623–1629.

    CAS  PubMed  Google Scholar 

  484. Kurschel S, Maier R, Gellner V, et al. Chiari I malformation and intra-cranial hypertension: A case-based review. Childs Nerv Syst. 2007;23:901–905.

    PubMed  Google Scholar 

  485. Kusuhara S, Nakamura M, Nagai-Kusuhara A, et al. Macular thickness reduction in eyes with unilateral optic atrophy detected with optical coherence tomography. Eye. 2006;20:882–887.

    CAS  PubMed  Google Scholar 

  486. Lagunju IA, Oluleye TS. Ocular abnormalities in children with cerebral palsy. Afr J Med Sci. 2007;36:71–75.

    CAS  Google Scholar 

  487. Lambert SL, Hoyt C. Brain problems. In: Taylor D, ed. Pediatric Ophthalmology. Boston: Blackwell Scientific Publications; 1990:507.

    Google Scholar 

  488. Lambert SR, Hoyt CS, Jan JE, et al. Visual recovery from hypoxic cortical blindness during childhood. Computed tomographic and magnetic resonance imaging predictors. Arch Ophthalmol. 1987;105:1371–1377.

    CAS  PubMed  Google Scholar 

  489. Lana-Peixoto MA, Andrade GC. The clinical profile of childhood optic neuritis. Arq Neuropsiquiatr. 2001;59:311–317.

    CAS  PubMed  Google Scholar 

  490. Lapresle J. Palatal myoclonus. Adv Neurol. 1986;43:265–273.

    CAS  PubMed  Google Scholar 

  491. Larnaout A, Ben Hamida M, Hentati F. A clinicopathological observation of Nyssen-van Bogaert syndrome with second motor neuron degeneration: two distinct clinical entities. Acta Neurol Scand. 1998;98:452–457.

    CAS  PubMed  Google Scholar 

  492. Lavrov AY, Ilyna ES, Zakharova EY, et al. The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol. 2002;6:161–164.

    PubMed  Google Scholar 

  493. Lawden MC, Eke T, Degg C, et al. Visual field defects associated with vigabatrin therapy. J Neurol Neurosurg Psychiat. 1999;67:1784–1794.

    Google Scholar 

  494. Lawthom C, Smith PE, Wild JM. Nasal retinal nerve fiber layer attenuation: A biomarker for vigabatrin toxicity. Ophthalmology. 2009;116:565–571.

    PubMed  Google Scholar 

  495. Leber T. Über hereditare und congenitalangelegte sehnervenleiden. Albrecht von Graefes Archiv Fuer Ophthalmol. 1871;17:249–291.

    Google Scholar 

  496. Lee CW, Bang H, Oh YG, et al. A case of late infantile neuronal ceroid lipofuscinosis. Yonsei Med J. 2003;44:331–335.

    PubMed  Google Scholar 

  497. Lee AG, Sforza PD, Fard AK, et al. Pituitary adenoma in children. J Neuroophthalmol. 1998;18(2):102–105.

    CAS  PubMed  Google Scholar 

  498. Lee HBH, Garrity JA, Cameron JD, et al. Primary optic nerve sheath meningioma in children. Surv Ophthalmol. 2008;53(6):543–558.

    Google Scholar 

  499. Lees F, MacDonald AM, Aldren Turner JW. Leber’s disease with symptoms resembling disseminated sclerosis. J Neurol Neurosurg Psychiatr. 1964;27:415–421.

    CAS  PubMed  Google Scholar 

  500. Leeuwen MA, van Bogaert L. Hereditary ataxia with optic atrophy of the retrobulbar neuritis type, and latent pallido-Luysian degeneration. Brain. 1949;72:340.

    Google Scholar 

  501. Lei SB, Wong A: A Geriatric Looking Young Boy. Presented at the Frank Walsh Society Meeting, February 22, 2009, Lake Tahoe, Nevada.

    Google Scholar 

  502. Leinonen MT, Elenius V. Perimetric testing of tritan deficiency. Ophthalmologica. 1992;204:204–209.

    CAS  PubMed  Google Scholar 

  503. Lempert P. Optic nerve hypoplasia and small eyes in presumed amblyopia. J AAPOS. 2000;4:258–266.

    CAS  PubMed  Google Scholar 

  504. Lesperance MM, Hall JW III, San Agustin TB, et al. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2003;129:411–420.

    PubMed  Google Scholar 

  505. Lessell S, Rosman NP. Juvenile diabetes mellitis and optic atrophy. Arch Neurol. 1977;34:759.

    CAS  PubMed  Google Scholar 

  506. Leuzzi V, Bertini E, De-Negri AM, et al. Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. J Neurol Neurosurg Psychiatry. 1992;55:16–19.

    CAS  PubMed  Google Scholar 

  507. Levin LA, Beck RW, Joseph MP, et al. A randomized, controlled trial of methylprednisolone or naloxone in the treatment of acute spinal cord injury. Ophthalmology. 1999;106:1268–1277.

    CAS  PubMed  Google Scholar 

  508. Levin LA, Beck RW, Joseph MP, et al. The treatment of traumatic optic neuropathy. The International Optic Nerve Trauma Study. Ophthalmology. 1999;106:1268–1277.

    CAS  PubMed  Google Scholar 

  509. Levin PS, Green WR, Victor DI, et al. Histopathology of the eye in Cockayne syndrome. Arch Ophthalmol. 1983;101:1093.

    CAS  PubMed  Google Scholar 

  510. Levin ML, O'Conner PS, Aguirre G, et al. Angiographically normal central retinal artery following the total resection of an optic nerve glioma. J Clin Neuro-Ophthalmol. 1986;6:1–8.

    CAS  Google Scholar 

  511. Levy RL, Miller NR. Hyperbaric oxygen therapy for radiation-induced optic neuropathy. Ann Acad Med Singapore. 2006;35:151–157.

    PubMed  Google Scholar 

  512. Lewis RA, Gerson LP, Axelson KA, et al. Von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata. Ophthalmology. 1984;91:929–935.

    CAS  PubMed  Google Scholar 

  513. Li C, Kosmorsky G, Zhang K, et al. Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. Am J Med Genet. 2005;138A:208–211.

    PubMed  Google Scholar 

  514. Lieberman AP, Fischbeck KH. Triplet repeat expansion in neuromuscular disease. Muscle Nerve. 2002;23:843–850.

    Google Scholar 

  515. Lin L, Chen Y, Tong Y, et al. Analysis of mitochondrial gene mutations in Chinese pedigrees of Leber’s hereditary optic neuropathy. Yan Ke Xue Bao. 2002;18:147–150.

    CAS  PubMed  Google Scholar 

  516. Lin CH, Lee YJ, Huang CY, et al. Wolfram (DIDMOAD) syndrome: report of two patients. J Pediatr Endocrinol Metab. 2004;17:1461–1464.

    PubMed  Google Scholar 

  517. Lindenbaum Y, Dickson D, Rosenbaum P, et al. Xeroderma pigmentosum/cockayne syndrome complex: First neuropathological study and review of eight other cases. Eur J Paediatr Neurol. 2001;5:225–242.

    CAS  PubMed  Google Scholar 

  518. Listernick R, Charrow J, Greenwald MJ, et al. Optic gliomas in children with neurofibromatosis type 1. J Pediatr. 1989;114:788–792.

    CAS  PubMed  Google Scholar 

  519. Liu GT. Visual loss in childhood. Surv Ophthalmol. 2001;46:35–42.

    CAS  PubMed  Google Scholar 

  520. Liu GT, Lessell S. Spontaneous visual improvement in chiasmal gliomas. Am J Ophthalmol. 1992;114:193–201.

    CAS  PubMed  Google Scholar 

  521. Livingstone IR, Mastaglia FL, Edis R, et al. Visual involvement in Friedreich ataxia and hereditary spastic ataxias: A clinical and visual response study. Arch Neurol. 1981;38:75–79.

    CAS  PubMed  Google Scholar 

  522. Lodi R, Tonon C, Valentino ML, et al. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol. 2004;56:719–723.

    CAS  PubMed  Google Scholar 

  523. Loeffler J, Utermann G, Witsch-Baumgartner M. Molecular prenatal diagnosis of Smith-Lemi-Opitz syndrome is reliable and efficient. Prenata Diagn. 2002;22:827–830.

    CAS  Google Scholar 

  524. Longman C, Tolmie J, McWilliam R, et al. Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome. Clin Dysmorphol. 2003;12:133–136.

    PubMed  Google Scholar 

  525. Looi A, Kazim M, Cortes M, et al. Orbital reconstruction after eyelid- and conjunctiva-sparing orbital exenteration. Ophthal Plast Reconst Surg. 2006;22:1–6.

    Google Scholar 

  526. Losowska-Kaniewska D, Oleś A. Imaging examinations in children with hydrocephalus. Adv Med Sci. 2007;52(Suppl 1):176–179.

    PubMed  Google Scholar 

  527. Lotery AJ, Jacobson SG, Fishman GA, et al. Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol. 2001;119:415–420.

    CAS  PubMed  Google Scholar 

  528. Lotery AJ, Namperumalsamy P, Jacobson SG, et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol. 2000;118:538–543.

    CAS  PubMed  Google Scholar 

  529. Luberichs J, Leo-Kottler B, Besch D, et al. A mutational hot spot in the mitochondrial ND6 gene in patients with Leber’s hereditary optic neuropathy. Graefes Arch Clin Exp Ophthalmol. 2002;240:96–100.

    CAS  PubMed  Google Scholar 

  530. Lynch DR, Farmer J. Practical approaches to neurogenetic disease. J Neuroophthalmol. 2002;22:297–304.

    PubMed  Google Scholar 

  531. Mabuchi F, Tang SA, Kashiwagi K, et al. The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. Am J Ophthalmol. 2007;143:125–130.

    CAS  PubMed  Google Scholar 

  532. Macdermot KD, Walker RW. Autosomal recessive hereitary motor and sensory neuropathy with mental retardation, optic atrophy and pyramidal signs. J Neurol Neurosurg Psychiatr. 1987;50:1342–1347.

    CAS  PubMed  Google Scholar 

  533. Macedo-Souza LI, Kok F, Santos S, et al. Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol. 2005;57:730–737.

    CAS  PubMed  Google Scholar 

  534. Mackey D, Buttery RG. Leber hereditary optic neuropathy in Australia. Aust N Z J Ophthalmol. 1992;20:177–184.

    CAS  PubMed  Google Scholar 

  535. Mackey DA, Fingert JH, Luzhansky JZ, et al. Leber’s hereditary optic neuropathy triggered by antiretroviral therapy for human immunodeficiency virus. Eye. 2003;17:312–317.

    CAS  PubMed  Google Scholar 

  536. Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet. 1992;51:1218–1228.

    CAS  PubMed  Google Scholar 

  537. Mackey DA, Oostra RJ, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigenerational pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 1996;59:481–485.

    CAS  PubMed  Google Scholar 

  538. MacLaren RE, Lightman SL. Variable phenotypes in patients diagnosed with idiopathic multifocal choroiditis. Clin Experiment Ophthalmol. 2006;34:233–238.

    PubMed  Google Scholar 

  539. Madreperia SA. Olivopontocerebellar atrophy with retinal degeneration. Fundus characteristics and diagnostic MRI findings. Ophthalmol Ped Genet. 1993;14:61–68.

    Google Scholar 

  540. Mafei L, Fiorrentini A. Electroretinographic responses to alternating gratings before and after section of the optic nerve. Science. 1981;211:953–955.

    CAS  PubMed  Google Scholar 

  541. Mafei L, Fiorrentini A, Bisti S, et al. Pattern ERG in the monkey after section of the optic nerve. Exp Brain Res. 1985;59:423–425.

    Google Scholar 

  542. Mahapatra AK. Optic nerve injury in children. A prospective study of 35 patients. J Neurol Sci. 1992;36:79–84.

    CAS  Google Scholar 

  543. Makhoul J, Cordonnier M, Van Nechel C. Optic neuropathy in Strumpell-Lorrain disease: Presentation of a clinical case and literature review. Bull Soc Belge Ophthalmol. 2002;286:9–14.

    Google Scholar 

  544. Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet. 2002;39:162–169.

    CAS  PubMed  Google Scholar 

  545. Manchester PT, Calhoun FP Jr. Dominant hereditary optic atrophy with bitemporal field defects. Arch Ophthalmol. 1958;60:479–484.

    Google Scholar 

  546. Mantyjarvi MI, Nerdrum K, Tuppurainen K. Color vision in dominant optic atrophy. J Clin Neuro-Ophthalmol. 1992;12:98–103.

    CAS  Google Scholar 

  547. Margo C, Hamed LM, McCarty J. Congenital optic tract syndrome. Arch Ophthalmol. 1991;109:1120–1122.

    CAS  PubMed  Google Scholar 

  548. Marszal E, Jamroz E, Paprocka J, et al. Leukoencephalopathy with macroencephaly and mild clinical course. Neurol Neurochir Pol. 2004;14:388.

    Google Scholar 

  549. Martin-Kleiner I, Gabrilovac J, Bradvica M, et al. Leber’s hereditary optic neuroretinopathy (LHON) associated with mitochondrial DNA point mutation G11778A in two Croatian families. Coll Antropol. 2006;30:171–174.

    PubMed  Google Scholar 

  550. Maruyama K, Arisaka O, Lee T, et al. Optic atro­phy in aqueduct stenosis. Eur J Pediatr. 1989;148:682. Letter.

    CAS  PubMed  Google Scholar 

  551. Marzan KA, Barron TF. MRI abnormalities in Behr syndrome. Pediatr Neurol. 1994;10:247–248.

    CAS  PubMed  Google Scholar 

  552. Mashima Y, Kigasawa K, Hasegawa H, et al. High incidence of pre-excitation syndrome in Japanese families with Leber’s hereditary optic neuropathy. Clin Genet. 1996;50:535–537.

    CAS  PubMed  Google Scholar 

  553. Mashima Y, Sato EA, Ohde H, et al. Macular nerve fibers temporal to fovea may have a greater potential to recover function in patients with Leber’s hereditary optic neuropathy. Jpn J Ophthalmol. 2002;46:660–667.

    PubMed  Google Scholar 

  554. Matson DD, Crigler JF Jr. Management of craniopharyngioma in childhood. J Neurosurg. 1969;30(4):377–390.

    CAS  PubMed  Google Scholar 

  555. Matsuba CA, Jan JE. Long-term outcome of children with cortical visual impairment. Dev Med Child Neurol. 2006;48:508–512.

    PubMed  Google Scholar 

  556. McAdams H, Geyer C, Done S, et al. CT and MR imaging of Canavan disease. Am J Neuroradiol. 1990;11:397–399.

    CAS  PubMed  Google Scholar 

  557. McComas AJ. Invited review: motor unit estima­tion: methods, results, and present status. Muscle Nerve. 1991;14:585–597.

    CAS  PubMed  Google Scholar 

  558. McDonnell JM, Green R, Maumenee IH. Ocular histopathology of systemic mucopolysaccharidosis. Opthalmology. 1990;97:1445–1449.

    Google Scholar 

  559. McGinnity FG, Bryars JH. Controlled study of ocular morbidity in school children born preterm. Br J Ophthalmol. 1992;76:520–524.

    CAS  PubMed  Google Scholar 

  560. McKluskey DJ, O'Connor PS, Sheehy JT. Leber’s optic neuropathy and Charcot–Marie–Tooth disease. J Clin Neuroophthalmol. 1986;6:76–81.

    Google Scholar 

  561. McKusick VA. Mendelian Inheritance in Man: A Catalog of Humane Genes and Genetic Disorders. 12th ed. The Johns Hopkins University Press: Baltimore, MD; 1998.

    Google Scholar 

  562. McKusick VA, Kaplan D, Wise D, et al. The genetic mucopolysaccharidoses. Medicine. 1965;44:445–483.

    CAS  PubMed  Google Scholar 

  563. Medlej R, Wasson J, Baz P, et al. Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinologic Metab. 2004;89:1656–1661.

    CAS  Google Scholar 

  564. Mefty O, Fox JL, Al-Rodhan N, et al. Optic nerve decompression in osteopetrosis. J Neurosurg. 1988;68:80–84.

    Google Scholar 

  565. Mégarbané A. Unknown diagnosis in two male cousins with facial abnormalities, optic atrophy, abnormal EEG, and severe psychomotor retardation. Am J Med Genet A. 2003;116A:281–384.

    Google Scholar 

  566. Mégarbané A, Choueiri R, Bleik J, et al. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: A second family with micro syndrome or a new syndrome? J Med Genet. 1999;36:637–640.

    PubMed  Google Scholar 

  567. Mégarbané A, Delague V, Ruchoux MM, et al. New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Am J Med Genet. 2001;101:135–141.

    PubMed  Google Scholar 

  568. Meira LB, Graham JM Jr, Greenberg CR, et al. Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. Am J Hum Genet. 2000;66:1221–1228.

    CAS  PubMed  Google Scholar 

  569. Meire F, De Laey JJ, de Bie S, et al. Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO). Ophthalmic Paediatr Genet. 1985;5:91–97.

    CAS  PubMed  Google Scholar 

  570. Mellersh CS, Boursnell ME, Pettitt L, et al. Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. Genomics. 2006;88:293–301.

    CAS  PubMed  Google Scholar 

  571. Menkes JH, Alter M, Steigleder GK, et al. A sex-linked recessive disorder with grow retardation, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics. 1962;29:764–779.

    CAS  PubMed  Google Scholar 

  572. Menon V, Arya AV, Sharma P, et al. An aetiological profile of optic atrophy. Acta Ophthalmol Copenh. 1992;70:725–729.

    CAS  PubMed  Google Scholar 

  573. Meola G. Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve. 2000;23:1789–1799.

    CAS  PubMed  Google Scholar 

  574. Merchant SN, McKenna MJ, Nadol JB Jr, et al. Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1). Otol Neurotol. 2001;22:506–511.

    CAS  PubMed  Google Scholar 

  575. Merrick J, Bergwerk K, Morad M, et al. Blindness in adolescents in Israel. Int J Adolesc Med Health. 2004;16:79–81.

    PubMed  Google Scholar 

  576. Mets MB. Childhood blindness and visual loss: An assessment at two institutions including a “new” cause. Trans Am Ophthalmol Soc. 1999;97:653–96.

    CAS  PubMed  Google Scholar 

  577. Mets MB, Mhoon E. Probable autosomal dominant optic atrophy with hearing loss. Ophthalmic Paediatr Genet. 1985;5(1-2):85–89.

    CAS  PubMed  Google Scholar 

  578. Michelakakis HM, Zafeirou DI, Moraitou MS, et al. PEX1 deficiency presenting as Leber congenital amaurosis. Pediatr Neurol. 2004;31:146–149.

    PubMed  Google Scholar 

  579. Mikelberg FS, Yidegiligne HM. Axonal loss in band atrophy of the optic nerve in craniopharyn­gioma: a quantitative analysis. Can J Ophthalmol. 1993;28:69–71.

    CAS  PubMed  Google Scholar 

  580. Milam AH, Barakat MR, Gupta N, et al. Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology. 2003;110:549–558.

    PubMed  Google Scholar 

  581. Miller NR. Optic atrophy. In: Walsh FB, Hoyt WF, eds. Clinical Neuro-Ophthalmology. 4th ed. Baltimore, MD: Williams & Wilkins; 1982:329–342.

    Google Scholar 

  582. Miller NR. Radiation-induced optic neuropathy: still no treatment. Clin Exp Ophthalmol. 2004;32:223–235.

    Google Scholar 

  583. Miller NR, Newman SA. Transsynaptic degeneration. Arch Ophthalmol. 1981;99:165. Letter.

    Google Scholar 

  584. Miller NR, Solomon S. Retinochoroidal (optociliary) shunt veins, blindness, and optic atrophy: A nonspecific sign of chronic optic nerve compression. Aust NZ J Ophthalmol. 1991;19:105–109.

    CAS  Google Scholar 

  585. Mirdehghan SA, Dehghan MH, Mohammadpour M, et al. Causes of severe visual impairment and blindness in schools for visually handicapped children in Iran. Br J Ophthalmol. 2005;89:612–614.

    CAS  PubMed  Google Scholar 

  586. Miyake Y, Yagasaki K, Ichikawa H. Differential diagnosis of congenital tritanopia and dominantly inherited optic atrophy. Arch Ophthalmol. 1985;103:1496–1501.

    CAS  PubMed  Google Scholar 

  587. Miyama S, Arimoto K, Kimiya S, et al. Complicated hereditary spastic paraplegia with peripheral neuropathy, optic atrophy and mental retardation. Neuropediatrics. 2000;31:214–217.

    CAS  PubMed  Google Scholar 

  588. Mohamed MD, Topping NC, Jafri H, et al. Progression of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus. Br J Ophthalmol. 2003;87:473–475.

    CAS  PubMed  Google Scholar 

  589. Mohn A, Capanna R, Delli Pizzi C, et al. Autosomal malignant osteopetrosis: From diagnosis to therapy. Minerva Pediatr. 2004;56:115–118.

    CAS  PubMed  Google Scholar 

  590. Moll A, Orawiec B, Niwald A, et al. Causes of visual disability in children and young adults. Klin Oczna. 2005;107:93–95.

    PubMed  Google Scholar 

  591. Moller HU. Recessively inherited, simple optic atrophy - does it exist? Ophthalmic Paediatr Genet. 1992;13:31–32. Letter.

    CAS  PubMed  Google Scholar 

  592. Monteiro ML. Evaluation of macular thickness measurements for detection of band atrophy of the optic nerve using optical coherence tomography. Ophthalmology. 2007;114:175–181.

    PubMed  Google Scholar 

  593. Moore AT, Buncic JR, Munro IR. Fibrous dysplasia of the orbit in childhood. Clinical features and management. Ophthalmology. 1985;92:12–20.

    CAS  PubMed  Google Scholar 

  594. Moorman CM, Anslow P, Elston JS. Is sphenoid sinus opacity significant in patients with optic neuritis? Eye. 1999;13(Pt 1):76–82.

    PubMed  Google Scholar 

  595. Morava E, Rodenburg R, Hol F, et al. Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. Am J Med Genet. 2006;140:752–756.

    PubMed  Google Scholar 

  596. Moriya N, Mitsui T, Shibata T, et al. GAPOS syndrome: Report on the first case in Japan. Am J Med Genet. 1995;58:257–261.

    CAS  PubMed  Google Scholar 

  597. Morris AA, Leonard JV, Brown GK, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol. 1996;40:25–30.

    CAS  PubMed  Google Scholar 

  598. Morse LE, Rosman NP. Myoclonic seizures in Krabbe disease: A unique presentation in late-onset type. Pediatr Neurol. 2006;35:154–157.

    PubMed  Google Scholar 

  599. Moschner C, Perlman S, Baloh RW. Comparison of oculomotor findings in the progressive ataxia syndromes. Brain. 1994;117:15.

    PubMed  Google Scholar 

  600. Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nature Clin Practice. 2007;3:140–150.

    Google Scholar 

  601. Moser CL, Martín-Baranera M, Vega F, et al. Survey of blindness and visual impairment in Bioko, Equatorial Guinea. Br J Ophthalmol. 2002;86:257–260.

    CAS  PubMed  Google Scholar 

  602. Mudgil AV, Repka MX. Childhood optic atrophy. Clin Experiment Ophthalmol. 2000;28:34–37.

    CAS  PubMed  Google Scholar 

  603. Mukai K, Seljeskog EL, Dehner LP. Pituitary adenomas in patients under 20 years old. A clinico­pathological study of 12 cases. J Neuro-Oncol. 1986;4:79–89.

    CAS  Google Scholar 

  604. Mullaney PB, Jacquemin C, Al-Rashed W, et al. Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. Arch Ophthalmol. 1997;115:940–941.

    CAS  PubMed  Google Scholar 

  605. Muller U, Steinberger D, Kunze S. Molecular genetics of craniosynostotic syndromes. Graefes Arch Clin Exp Ophthlamol. 1997;235:545–550.

    CAS  Google Scholar 

  606. Munnich A, Rustin P, Rotig D, et al. Clinical as­pects of mitochondrial disorders. J Inherited Metab Dis. 1992;15:448–455.

    CAS  PubMed  Google Scholar 

  607. Muthukumar N, Sundaralingam MP. Retinocephalic vascular malformation: Case report. Br J Neurosurg. 1998;12:458–460.

    CAS  PubMed  Google Scholar 

  608. Mwanza JC, Nkidiaka CM, Kayembe DL, et al. Ophthalmologic abnormalities in mentally retarded. Bull Soc Belge Ophthalmol. 2000;277:75–78.

    Google Scholar 

  609. Nabi NU, Mezer E, Blaser SI, et al. Ocular findings in lissencephaly. J AAPOS. 2003;7:178–184.

    PubMed  Google Scholar 

  610. Nakamura M, Ito S, Piao C-H. Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. Arch Ophthalmol. 1003;121:1028–1033.

    Google Scholar 

  611. Nakamura M, Lin J, Ueno S, et al. Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. Ophthalmology. 2006;113:482–488.el.

    Google Scholar 

  612. Nakamura M, Tanigawa M, Yamamoto M. A case of Leber’s hereditary optic neuropathy with a mitochondrial DNA mutation at nucleotide position 3460. Jpn J Ophthalmol. 1994;38:267–271.

    Google Scholar 

  613. Nakhla M, Polychronakos C. Monogenic and other unusual causes of diabetes mellitus. Pediatr Clin North Am. 2005;52:1637–1650.

    PubMed  Google Scholar 

  614. Nance MA, Berry SA. Cockayne syndrome: Review of 140 cases. Am J Med Genet. 1992;42:68–84.

    CAS  PubMed  Google Scholar 

  615. Narula P, Gifford J, Steggall MA, et al. Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2006;43:348–352.

    PubMed  Google Scholar 

  616. Neas K, Bennetts B, Carpenter K, et al. OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. J Inherit Metab Dis. 2005;28:525–532.

    CAS  PubMed  Google Scholar 

  617. Neetens A, Leroy J, Smets RM. Menkes’ kinky hair disease. Bull Soc Belge Ophtal. 1982;203:75–83.

    CAS  PubMed  Google Scholar 

  618. Neetens A, Martin JJ. The hereditary optic atrophies. Neuro-ophthalmology. 1986;6:277.

    Google Scholar 

  619. Neetens A, Rubbens MC. Dominant juvenile optic atrophy. Ophthalmic Paediatr Genet. 1985;5:79–83.

    CAS  PubMed  Google Scholar 

  620. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 6th ed. New York: McGraw-Hill; 1989;II:1565–1587.

    Google Scholar 

  621. Newman NJ. Leber’s hereditary optic neuropathy. Ophthalmol Clin North Am. 1991;4:431–447.

    Google Scholar 

  622. Newman SA. Ophthalmic features of craniosynostosis. Neurosurg Clin North Am. 1991;2:587–610.

    CAS  Google Scholar 

  623. Newman NJ. Leber’s hereditary optic neuropathy. New genetic considerations. Arch Neurol. 1993;50:540–548.

    CAS  PubMed  Google Scholar 

  624. Newman NJ. Optic disc pallor: a false localizing sign. Surv Ophthalmol. 1993;37:237–282.

    Google Scholar 

  625. Newman NJ. Hereditary optic neuropathies: From the mitochondria to the optic nerve. Am J Ophthalmol. 2005;140:517–523.

    CAS  PubMed  Google Scholar 

  626. Newman NJ. Hereditary optic neuropathies. In: Miller NR, Newman NJ, Bioussse V, Kerrison JB, eds. Walsh & Hoyt’s Clinical Neuro-Ophthalmology. Vol. 1, 6th ed. Baltimore, MD: Lippincott Williams & Wilkins; 2005:465–501.

    Google Scholar 

  627. Newman NJ, Biousse V. Hereditary optic neuropathies. Eye. 2004;18:1144–1160.

    CAS  PubMed  Google Scholar 

  628. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991;111(6):750–762.

    CAS  PubMed  Google Scholar 

  629. Newman SA, Miller NR. Optic tract syndrome. Neuro-ophthalmologic considerations. Arch Ophthalmol. 1983;101:1241–1250.

    CAS  PubMed  Google Scholar 

  630. Nguyen C, Borruat FX. Bilateral peripapillary subretinal neovessel membrane associated with chronic papilledema: report of two cases. Klin Monatsbl Augenheilkd. 2005;222:275–278.

    CAS  PubMed  Google Scholar 

  631. Nguyen TN, Polomeno RC, Farmer JP, et al. Ophthalmic complications of slit-ventricle syndrome in children. Ophthalmology. 2002;109:520–524.

    PubMed  Google Scholar 

  632. Nicolaides P, Appleton RE, Fryer A. Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome. J Med Genet. 1996;33:419–421.

    CAS  PubMed  Google Scholar 

  633. Nielsen LS, Skov L, Jensen H. Visual dysfunctions and ocular disorders in children with developmental delay. I. Prevalence, diagnosis and aetiology of visual impairment. Acta Ophthalmol Scand. 2007;85:149–156.

    PubMed  Google Scholar 

  634. Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in Leber’s hereditary optic neuropathy. II. The fundus findings in the affected family members. Arch Ophthalmol. 1983;101:1059–1068.

    CAS  PubMed  Google Scholar 

  635. Nikoskelainen EL, Huoponen K, Juvonen V, et al. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology. 1996;103:504–514.

    CAS  PubMed  Google Scholar 

  636. Nikoskelainen EL, Marttila RJ, Huoponen K, et al. Leber’s “plus“: Neurological abnormalities in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry. 1995;59:160–164.

    CAS  PubMed  Google Scholar 

  637. Nikoskelainen EK, Savontaus ML, Huoponen J, et al. Pre-excitation syndrome in Leber’s hereditary optic neuropathy. Lancet. 1994;344:857–858.

    CAS  PubMed  Google Scholar 

  638. Nikoskelainen E, Savontaus ML, Wanne O, et al. Leber’s hereditary optic neuroretinopathy, a maternally inheredited disease. A genealogic study in four pedigrees. Arch Ophthalmol. 1987;105:665–671.

    CAS  PubMed  Google Scholar 

  639. Nikoskelainen E, Wanne O, Dahl M. Pre-excitation syndrome and Leber’s hereditary optic neuroretinopathy. Lancet. 1985;1:696.

    CAS  PubMed  Google Scholar 

  640. Nmorsi OP, Oladokun IA, Egwunyenga OA, et al. Eye lesions and onchocerciasis in a rural farm settlement in Delta state, Nigeria. Southeast Asian J Trop Med Public Health. 2002;33:28–32.

    CAS  PubMed  Google Scholar 

  641. Nmorsi OP, Ukwandu NC, Alabi-Eric OJ, et al. CD4(+), CD8(+), immunoglobulin status and ocular lesions among some onchocerciasis-infected rural Nigerians. Parasitol Res. 2007;100:1261–1266.

    CAS  PubMed  Google Scholar 

  642. Noguchi Y, Yashima T, Hatanaka A, et al. A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss. Acta Otolaryngol. 2005;125:1189–1194.

    CAS  PubMed  Google Scholar 

  643. Nomura S, Suzuki R, Sugiyama S, et al. Optic glioma with characteristic bilateral optic atrophy in a 3-year-old girl. Pediatr Neurosurg. 1999;31:213–218.

    CAS  PubMed  Google Scholar 

  644. North KN, Korson MS, Gopol YR, et al. Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management. J Pediatr. 1995;126:916–922.

    CAS  PubMed  Google Scholar 

  645. Novotny EJ, Singh G, Wallace DC, et al. Leber’s disease and dystonia. A mitochondrial disease. Neurology. 1986;36:1053–1060.

    PubMed  Google Scholar 

  646. Numabe H. Optic atrophy, Behr syndrome. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):382–383.

    PubMed  Google Scholar 

  647. O’Hara CM, Izadi K, Albright AL, et al. Case report of optic atrophy in pansynostosis: An unusual presentation of scalp edema from hair braiding. Pediatr Neurosurg. 2006;42:100–104.

    PubMed  Google Scholar 

  648. O’Keefe M, Kafil-Hussain N, Flitcroft I, et al. Ocular significance of intraventricular haemorrhage in premature infants. Br J Ophthalmol. 2001;85:357–359.

    PubMed  Google Scholar 

  649. Ohata T, Koizumi A, Kayo T, et al. Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. Hum Genet. 1998;103:470–474.

    CAS  PubMed  Google Scholar 

  650. Ohba N, Imamura PM, Tanino T. Colour vision in a pedigree with autosomal dominant optic atrophy. Mod Probl Ophthalmol. 1976;17:315–319.

    CAS  PubMed  Google Scholar 

  651. Ohlenbusch A, Wilichowski E, Hanefeld F, et al. Characterization of the mitochondrial genome in childhood multiple sclerosis. III. Multiple sclerosis without optic neuritis and the non-LHON-associated genes. Neuropediatrics. 1998;29:313–319.

    CAS  PubMed  Google Scholar 

  652. Ohtsuka Y, Amano R, Oka E, et al. Myoclonus epilepsy with ragged-red fibers: A clinical and elec­trophysiologic follow-up study on two sibling cases. J Child Neurol. 1993;8:366–372.

    CAS  PubMed  Google Scholar 

  653. Okamoto K, Tokiguchi S, Furusawa T, et al. MR features of diseases involving bilateral middle cerebellar peduncles. Am J Neuroradiol. 2003;24:1946–1954.

    PubMed  Google Scholar 

  654. Okuno T, Prensky AL, Gado M. The Moyamoya syndrome associated with irradiation of optic glioma in children: Report of two cases and review of the literature. Pediatr Neurol. 1985;1:311–316.

    CAS  PubMed  Google Scholar 

  655. Olichon A, Baricault L, Gas N, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome ce release and apoptosis. J Biol Chem. 2003;278:7743–7746.

    CAS  PubMed  Google Scholar 

  656. Oluleye TS, Ajaiyeoba AI, Akinwale MO, et al. Causes of blindness in Southwestern Nigeria: A general hospital clinic study. Eur J Ophthalmol. 2006;16:604–607.

    CAS  PubMed  Google Scholar 

  657. Oluwole OS, Onabolu AO, Link H, et al. Persistence of tropical ataxic neuropathy in a Nigerian community. J Neurol Neurosurg Psychiatry. 2000;69:96–101.

    CAS  PubMed  Google Scholar 

  658. Omran H, Sasmaz G, Häffner K, et al. Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. J Am Soc Nephrol. 2002;13:75–79.

    CAS  PubMed  Google Scholar 

  659. Opal P, Zoghbi HY. The hereditary ataxias. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics. 5th ed. Philadelphia: Elsevier; 2007:2755–2770. Vol. 3

    Google Scholar 

  660. Orbak Z, Orbak R, Ozkan B, et al. GAPO syndrome: First patients with partially empty sella. J Pediatr Endocrinol Metab. 2002;15:865–868.

    PubMed  Google Scholar 

  661. Orozco Diaz G, Nodarse Fleites A, Cordoves Sagaz R, et al. Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguin, Cuba. Neurology. 1990;40:1369–1375.

    CAS  PubMed  Google Scholar 

  662. Ortiz RG, Newman NJ, Manoukian S, et al. Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber’s hereditary optic neuropathy. Am J Ophthalmol. 1992;113:561–566.

    CAS  PubMed  Google Scholar 

  663. Ouvrier RA. Pallor of the optic disc in children. Aust NZ J Ophthalmol. 1990;18:375–379.

    CAS  Google Scholar 

  664. Ozden S, Düzcan F, Wollnik B, et al. Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. Ophthalmic Genet. 2002;23:29–36.

    PubMed  Google Scholar 

  665. Ozer PA, Yalvac IS, Satana B, et al. Incidence and risk factors in secondary glaucomas after blunt and penetrating ocular trauma. J Glaucoma. 2007;16:685–690.

    PubMed  Google Scholar 

  666. Ozkan H, Unsal E, Kose G. Oculocerebral hypopigmentation syndrome (Cross syndrome). Turk J Pediatr. 1991;33(4):247–252.

    CAS  PubMed  Google Scholar 

  667. Packwood EA, Havertape SA, Cruz OA, et al. Visual rehabilitation in a child with diffuse choroidal hemangioma by using aggressive amblyopia therapy with low-dose external beam irradiation. J AAPOS. 2000;4:321–322.

    CAS  PubMed  Google Scholar 

  668. Pakdemirli E, Karabulut N, Bir LS, et al. Cranial magnetic resonance imaging of Wolfram (DIDMOAD) syndrome. Australas Radiol. 2005;49:189–191.

    CAS  PubMed  Google Scholar 

  669. Palan A, Stehouwer A, Went LN. Studies on Leber’s optic neuropathy III. Doc Ophthalmol. 1989;71:77–87.

    CAS  PubMed  Google Scholar 

  670. Pan WJ, Wu G, Li CX, et al. Progressive atrophy in the optic pathway and visual cortex of early blind Chinese adults: A voxel-based morphometry magnetic resonance imaging study. Neuroimage. 2007;37:212–220.

    PubMed  Google Scholar 

  671. Pang CY, Huang CC, Yen MY, et al. Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan. J Formos Med Assoc. 1999;98:326–334.

    CAS  PubMed  Google Scholar 

  672. Parravano JG, Toledo A, Kucharczyk W. Dimensions of the optic nerves, chiasm, and tracts: MR quantitative comparison between patients with optic atrophy and normals. J Comput Assist Tomogr. 1993;17:688–690.

    CAS  PubMed  Google Scholar 

  673. Parsa CS, Hoyt CS, Lesser RL, et al. Spontaneous regression of optic gliomas-thirteen cases documented by serial neuroimaging. Arch Ophthalmol. 2001;119:516–529.

    CAS  PubMed  Google Scholar 

  674. Patil CG, Lad EM, Lad SP, et al. Visual loss after spine surgery: a population-based study. Spine (phila PA 1976). 2008;33(13):1491–1496.

    Google Scholar 

  675. Patton N, Beatty S, Lloyd IC, et al. Optic atrophy in association with cobalamin C (cblC) disease. Ophthalmic Genet. 2000;21:151–154.

    CAS  PubMed  Google Scholar 

  676. Pauli RM. Sensorineural deafness and peripheral polyneuropathy. Clin Genet. 1984;26:383–384.

    CAS  PubMed  Google Scholar 

  677. Paulus W, Straube A, Bauer W, et al. Central nervous system involvement in Leber’s optic neuropathy. J Neurol. 1993;240:251–253.

    CAS  PubMed  Google Scholar 

  678. Payne M, Yang Z, Katz BJ. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoloplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol. 2004;138:749–755.

    CAS  PubMed  Google Scholar 

  679. Pearce WG. Variable severity in autosomal dominant optic atrophy. Ophthalmic Paediatr Genet. 1985;5(1-2):99–102.

    CAS  PubMed  Google Scholar 

  680. Pena SD, Shokeir MH. The cerebro-oculo-facio-skeletal (COFS) syndrome. Clin Genet. 1974;5:285–293.

    CAS  PubMed  Google Scholar 

  681. Perrault I, Delphin N, Hanein S, et al. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007;28:416.

    PubMed  Google Scholar 

  682. Perrault I, Rozet JM, Gerber S, et al. Leber congenital amaurosis. Mol Genet Metab. 1999;68:200–208.

    CAS  PubMed  Google Scholar 

  683. Peters U, Preisler-Adams S, Lanvers-Kaminsky C, et al. Sequence variations of mitochondrial DNA and individual sensitivity to the ototoxic effect of cisplatin. Anticancer Res. 2003;23:1249–1255.

    CAS  PubMed  Google Scholar 

  684. Peterson JR, Rosenberg T, Ibssen KK. Optic atro­phy with particular attention to perinatal damage. Ugeskr Laeger. 1990;152:3865–3867.

    Google Scholar 

  685. Pezzi PP, De Negri AM, Sadun F, et al. Childhood Leber’s hereditary optic neuropathy (ND1/3460) with visual recovery. Pediatr Neurol. 1998;19:308–312.

    CAS  PubMed  Google Scholar 

  686. Phasukkijwatana N, Chuenkongkaew WL, Suphavilai R, et al. The unique characteristics of Thai Leber hereditary optic neuropathy: Analysis of 30 G11778A pedigrees. J Hum Genet. 2006;51:298–304.

    CAS  PubMed  Google Scholar 

  687. Phillips CI, Mackintosh GI, Howe JW, et al. Autosomal recessive “optic atrophy” with late onset and evidence of ganglion cell dysfunction: a sibship of two females. Ophthalmologica. 1993;206:89–93.

    CAS  PubMed  Google Scholar 

  688. Phillips PH, Newman NJ. Mitochondrial diseases in pediatric ophthalmology. J AAPOS. 1997;1:115–122.

    CAS  PubMed  Google Scholar 

  689. Pilley SF, Thompson HS. Familial syndrome of di­abetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) in children. Br J Ophthalmol. 1976;60:294–298.

    CAS  PubMed  Google Scholar 

  690. Pitz S, Ogun O, Bajbouj M, et al. Ocular changes in patients with mucopolysaccharidosis I receiving enzyme replacement therapy: A 4-year experience. Arch Ophthalmol. 2007;125:1353–1356.

    CAS  PubMed  Google Scholar 

  691. Pollack IF, Losken HW, Biglan AW. Incidence of increased intracranial pressure after early surgical treatment of syndromic craniosynostosis. Pediatr Neurosurg. 1996;24:202–209.

    CAS  PubMed  Google Scholar 

  692. Pollock SC, Miller NR. The retinal nerve fiber layer. Int Ophthalmol Clin. 1986;26:201–221.

    CAS  PubMed  Google Scholar 

  693. Polymeropoulos MH, Swift RG, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet. 1994;8:95.

    CAS  PubMed  Google Scholar 

  694. Pomeranz HD, Lessell S. A hereditary chiasmal optic neuropathy. Arch Ophthalmol. 1999;117:128–131.

    CAS  PubMed  Google Scholar 

  695. Posnick JC, Wells MD, Drake JM, et al. Childhood fibrous dysplasia presenting as blindness: A skull base approach for resection and immediate recon­struction. Pediatr Neurosurg. 1993;19:260–266.

    CAS  PubMed  Google Scholar 

  696. Pott JW, Sprunger DT, Helveston EM. Infantile estropia in very low birth weight (VLBW) children. Strabismus. 1999;7:97–102.

    CAS  PubMed  Google Scholar 

  697. Poussaint TY, Barnes PD, Anthony DC. Hemorrhagic pituitary adenomas of adolescence. Am J Neuroradiol. 1996;17:1907–1912.

    CAS  PubMed  Google Scholar 

  698. Prietsch V, Peters V, Hackler R, et al. A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. J Inherit Metab Dis. 2002;25:126–130.

    CAS  PubMed  Google Scholar 

  699. Proud VK, Levine C, Carpenter NJ. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Am J Med Genet. 1992;43(1-2):458–466.

    CAS  PubMed  Google Scholar 

  700. Pruzon J, Frohman L, Hood D, et al. Electroretinographic abnormalities in a case of Rosenberg–Chutorian syndrome. Presented as a poster at the North American Neuro-ophthalmology Society, Feb. 12-17, 2005, Copper Mountain, Colo.

    Google Scholar 

  701. Ptacek LJ. Autosomal dominant spinocerebellar atrophy with retinal degeneration. Clin Neurosci. 1995;3:28–32.

    CAS  PubMed  Google Scholar 

  702. Pulzer F, Robel-Tillig E, Knüpfer M, et al. Ocular complications at the limits of viability. Act Paediatr. 2007;96:353–357.

    Google Scholar 

  703. Puomila A, Hämäläinen P, Kivioja S, et al. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet. 2007;15:1079–1089.

    PubMed  Google Scholar 

  704. Puomila A, Huoponen K, Mäntjärvi M, et al. Dominant optic atrophy: correlation between clinical and molecular genetic studies. Acta Ophthalmol Scand. 2005;83:337–346.

    PubMed  Google Scholar 

  705. Pusey E, Kortman KE, Flannigan BD, et al. MR of craniopharyngioma: tumor delineation and characterization. AJR Am J Roentgenol. 1987;149:383–388.

    CAS  PubMed  Google Scholar 

  706. Qi X, Hauswirth WW, Lewin AS, et al. Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation. Arch Ophthalmol. 2007;125:268–272.

    CAS  PubMed  Google Scholar 

  707. Qu J, Li R, Zhou X, et al. The novel A4435G mutation in the mitochondrial tRNAMet may modulate the phenotypic expression of the LHON-associated ND4 G11778A mutation. Invest Ophthalmol Vis Sci. 2006;47:475–483.

    PubMed  Google Scholar 

  708. Qu J, Li R, Zhou X, et al. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four-generation Chinese family. Mitochondrion. 2007;7:140–146.

    CAS  PubMed  Google Scholar 

  709. Quigley HA, Anderson DR. The histologic basis of optic disk pallor in experimental optic atrophy. Am J Ophthalmol. 1977;83:709–717.

    CAS  PubMed  Google Scholar 

  710. Quigley HA, Davis EB, Anderson DR. Descending optic nerve degeneration in primates. Invest Ophthalmol Vis Sci. 1977;16:841–849.

    CAS  PubMed  Google Scholar 

  711. Quigley HA, Hohman RM, Addicks EM. Quantitative study of optic nerve head capillaries in experi­mental optic disc pallor. Am J Ophthalmol. 1982;93(6):689–699.

    CAS  PubMed  Google Scholar 

  712. Rahman AM, Madge SN, Billing K, et al. Craniofacial fibrous dysplasia: Clinical characteristics and long-term outcome. Eye 2009, epub ahead of print.

    Google Scholar 

  713. Rahman S, Blok RB, Dahl H-H M, et al. Leigh syndrome. Clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996;39:343–351.

    CAS  PubMed  Google Scholar 

  714. Rahn EK, Yanoff M, Tucker S. Neuro-ocular considerations in the Pelizaeus-Merzbacher syndrome: A clinicopathologic study. Am J Ophthalmol. 1968;66:1143–1151.

    CAS  PubMed  Google Scholar 

  715. Ramaekers VT, Brab M, Rau G, et al. Recovery from neurological deficits following biotin treat­ment in a biotinidase Km variant. Neuropediatrics. 1993;24:98–102.

    CAS  PubMed  Google Scholar 

  716. Ramprasad VL, Soumittra N, Nancarrow D, et al. Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis. Mol Vis. 2008;10:481–486.

    Google Scholar 

  717. Rando TA, Horton JC, Layzer RB. Wolfram syndrome: Evidence of a diffuse neurodegenerative disease by magnetic resonance imaging. Neurology. 1992;42:1220–1224.

    CAS  PubMed  Google Scholar 

  718. Raney RB, Asmar L, Vassilopoulou-Sellin R, et al. Late complications of therapy in 213 children with localized, nonorbital soft-tissue sarcoma of the head and neck: A descriptive report from the Intergroup Rhabdomyosarcoma Studies (IRS)-II and -III. IRS Group of the Children’s Cancer Group and the Pediatric Oncology Group. Med Pediatr Oncol. 1999;33:362–371.

    CAS  PubMed  Google Scholar 

  719. Ranjan P, Kalita J, Misra UK. Serial study of clinical and CT changes in tuberculous meningitis. Neuroradiology. 2003;45:277–282.

    CAS  PubMed  Google Scholar 

  720. Rapid I, Traeger E. Cerebral degenerations of childhood. In: Rowland LP, ed. Merritt’s Textbook of Neurology. 9th ed. Baltimore: Williams & Wilkins; 1995:547–571.

    Google Scholar 

  721. Rapin I, Traeger E. Differential diagnosis. In: Rowland LP, ed. Merritt’s Textbook of Neurology. 9th ed. Baltimore, MD: Williams & Wilkins; 1995:597–603.

    Google Scholar 

  722. Rathinam SR, Vijayalakshmi P, Namperumalsamy P, et al. Vogt-Koyanagi-Harada syndrome in children. Ocul Immunol Inflamm. 1998;6:155–161.

    CAS  PubMed  Google Scholar 

  723. Reed UC, Tsanaclis AM, Vainzof M, et al. Merosin-positive congenital muscular dystrophy in two siblings with cataract and slight mental retardation. Brain Dev. 1999;21:274–278.

    CAS  PubMed  Google Scholar 

  724. Repka MX. Ophthalmological problems of the premature infant. Ment Retard Dev Disabil Res Rev. 2002;8:249–257.

    PubMed  Google Scholar 

  725. Repka MX, Miller NR. Optic atrophy in children. Am J Ophthalmol. 1988;106:191–193.

    CAS  PubMed  Google Scholar 

  726. Repka MX, Miller NR, Miller M. Visual outcome after surgical removal of craniopharyngiomas. Ophthalmology. 1989;96:195–199.

    CAS  PubMed  Google Scholar 

  727. Reynier P, Amati-Bonneau P, Verny C, et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004;41:e110.

    CAS  PubMed  Google Scholar 

  728. Rezaie T, Karimi-Nejad MH, Meshkat MR, et al. Genetic screening of Leber congenital amaurosis in a large cosanguinous Iranian family. Ophthalmic Genet. 2007;28:224–228.

    CAS  PubMed  Google Scholar 

  729. Ricci D, Anker S, Cowan F, et al. Thalmic atrophy in infants with PVL and cerebral visual impairment. Early Hum Dev. 2006;82:591–595.

    PubMed  Google Scholar 

  730. Richmond IL, Wilson CB. Pituitary adenomas in childhood and adolescence. J Neurosurg. 1978;49:163–168.

    CAS  PubMed  Google Scholar 

  731. Riggs JE, Ellis BD, Hogg JP, et al. Acute periaqueductal syndrome associated with the G11778A mitochondrial DNA mutation. Neurology. 2001;56:570–571.

    CAS  PubMed  Google Scholar 

  732. Riikonen R. The PEHO syndrome. Brain Dev. 2001;23:765–769.

    CAS  PubMed  Google Scholar 

  733. Riikonen R, Somer M, Turpeinen U. Low insulin-like growth factor (IGF-1) in the cerebrospinal fluid of children with progressive encephalopathy, hyparrhythmia, and optic atrophy (PEHO) syndrome and cerebellar degeneration. Epilepsia. 1999;40:1642–1648.

    CAS  PubMed  Google Scholar 

  734. Riordan-Eva P, Sanders MD, Govan GG, et al. The clinical features of Leber’s hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain. 1995;118:319–337.

    PubMed  Google Scholar 

  735. Rizvi R, Anjum Q. Hydrocephalus in children. J Pak Med Assoc. 2005;55:502–507.

    PubMed  Google Scholar 

  736. Rizzo JF, Lessell S, Liebman S. Optic atrophy in familial dysautonomia. Am J Ophthalmol. 1986;102:463–467.

    PubMed  Google Scholar 

  737. Robb RM, Dowton SB, Fulton AB, et al. Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. Am J Ophthalmol. 1984;97:691–696.

    CAS  PubMed  Google Scholar 

  738. Roberts I, Yates D, Sandercock P, et al. Effect of intravenous corticosteroids on death within 14 days in 10008 adults with clinically significant head injury (MRC CRASH trial): randomized placebo-controlled trial. Lancet. 2004;364:1321–1328.

    PubMed  Google Scholar 

  739. Roggeveen HC, de Winter AP, Went LN. Studies in dominant optic atrophy. Ophthalmic Paediatr Genet. 1985;5:103–109.

    CAS  PubMed  Google Scholar 

  740. Ron E, Modam B, Boice JD, et al. Tumors of the brain and nervous system after radiotherapy in childhood. N Engl J Med. 1988;319:1033.

    CAS  PubMed  Google Scholar 

  741. Roodhooft JM. Nonglaucomatous optic disk atrophy and excavation in the elderly. Bull Soc Belge Ophtalmol. 2003;287:45–49.

    PubMed  Google Scholar 

  742. Rose AL, Farmer PM, Mitra N, et al. Clinical, pathologic, and neurochemical studies of an unusual case of neuronal storage disease with lamellar cytoplasmic inclusions: A new genetic disorder? J Child Neurol. 1999;14:123–129.

    CAS  PubMed  Google Scholar 

  743. Rosenberg RN, Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology. 1967;17:827–832.

    CAS  PubMed  Google Scholar 

  744. Rosenberg RN, Grossman A. Hereditary ataxia. Neurol Clin. 1989;7:25–36.

    CAS  PubMed  Google Scholar 

  745. Rosenblatt DS, Aspler AL, Shevell MI. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inherit Met Dis. 1997;20:528–538.

    CAS  Google Scholar 

  746. Rothermel H, Hedges TR III, Steere AC. Optic neuropathy in children with Lyme syndrome. Pediatrics. 2001;108:477–481.

    CAS  PubMed  Google Scholar 

  747. Rotig A, Cormier V, Chatelain P, et al. Deletion of mitochondrial DNA in a case of early-onset dia­betes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest. 1993;91(3):1095–1098.

    CAS  PubMed  Google Scholar 

  748. Rouzier CA, Monnot S, Chabroi B, et al. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet. 2007;143A:1605–1612.

    PubMed  Google Scholar 

  749. Ruberto G, Salati R, Milano G, et al. Changes in the optic disc excavation of children affected by cerebral visual impairment: a tomographic analysis. Invest Ophthalmol Vis Sci. 2006;47:484–488.

    PubMed  Google Scholar 

  750. Rudanko SL, Fellman V, Laatikainen L. Visual impairment in children born prematurely from 1972 to 1989. Ophthalmology. 2003;110:1639–1645.

    PubMed  Google Scholar 

  751. Rudanko SL, Laatikainen L. Visual impairment in children born at full term from 1972 through 1989 in Finland. Ophthalmology. 2004;111:2307–2312.

    PubMed  Google Scholar 

  752. Rutner D, Kapoor N, Ciuffreda KJ, et al. Occurrence of ocular disease in traumatic brain injury in a selected sample: A retrospective analysis. Brain Inj. 2006;20:1079–1086.

    PubMed  Google Scholar 

  753. Rutzen AR, Ellish NJ, Schwab L, et al. Blindness and eye disease in Cambodia. Ophthalmic Epidemiol. 2007;14:360–366.

    PubMed  Google Scholar 

  754. Ryan SJ, Smith RE. Retinopathy associated with hereditary olivopontocerebellar degeneration. Am J Ophthalmol. 1971;71:838.

    CAS  PubMed  Google Scholar 

  755. Saas JO, Hofmann M, Skladal D, et al. Propionic acidemia revisited: A workshop report. Clin Pediatr. 2004;43:837–843.

    Google Scholar 

  756. Saatci U, Soylemezoglu O, Ozen S, et al. Diabetes mellitus, diabetes insipidus, optic atrophy and deafness (DIDMOAD syndrome). Turk J Pediatr. 1990;32:211–215.

    CAS  PubMed  Google Scholar 

  757. Sachdev MS, Kumar H, Jain AK, et al. Transsy­naptic neuronal degeneration of optic nerves associated with bilateral occipital lesions. Ind J Ophthalmol. 1990;38:151–152.

    CAS  Google Scholar 

  758. Sadun AA. Acquired mitochondrial impairment as a cause of optic nerve disease. Trans Am Ophthalmol Soc. 1998;96:881–923.

    CAS  PubMed  Google Scholar 

  759. Sadun AA, Carelli V, Salomao SR. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditry optic neuropathy. Am J Ophthalmol. 2003;136:231–238.

    PubMed  Google Scholar 

  760. Sadun F, De Negri AM, Carelli V, et al. Ophthalmologic findings in a large pedigree of 11778/Haplogroup J Leber hereditary optic neuropathy. Am J Ophthalmol. 2004;137:271–277.

    PubMed  Google Scholar 

  761. Sadun AA, Kashima Y, Wurdeman AE, et al. Morphological findings in the visual system in a case of Leber’s hereditary optic neuropathy. Clin Neurosci. 1994;2:165–172.

    Google Scholar 

  762. Sadun AA, Martone JF, Muci-Mendoza R, et al. Epidemic optic neuropathy in Cuba. Eye findings. Arch Ophthalmo. 1994;112:691–699.

    CAS  Google Scholar 

  763. Saeed P, Rootman J, Nugent RA, et al. Optic nerve sheath meningiomas. Ophthalmology. 2003;110:2019–2030.

    PubMed  Google Scholar 

  764. Safran AB, Lupolover Y, Berney J. Macular reflexes in optic atrophy. Am J Ophthalmol. 1984;98:494.

    CAS  PubMed  Google Scholar 

  765. Salbert BA, Astruc J, Wolf B. Ophthalmologic findings in biotinidase deficiency. Ophthalmologica. 1993;206(4):177–181.

    CAS  PubMed  Google Scholar 

  766. Salih MA, Tuvemo T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families. Acta Paediatr Scand. 1991;80:567–572.

    CAS  PubMed  Google Scholar 

  767. Salonen R, Somer M, Haltia M, et al. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet. 1991;39:287–293.

    CAS  PubMed  Google Scholar 

  768. Sanchez RN, Smith AJ, Carelli V, et al. Leber hereditary optic neuropathy possibly triggered by exposure to tire fire. J Neuro­ophthalmol. 2006;26:268–272.

    PubMed  Google Scholar 

  769. Santorelli FM, Barmada MA, Pons R, et al. Leigh-type neuropathology in Pearson syndrome associated with imparied ATP production and a novel mtDNA deletion. Neurology. 1996;47:1320–1323.

    CAS  PubMed  Google Scholar 

  770. Santorelli FM, Shanske S, Macaya A, et al. The mutation at nt8993 of mitochondrial DNA is a common cause of Leigh’s syndrome. Ann Neurol. 1993;34:827–834.

    CAS  PubMed  Google Scholar 

  771. Santucci M, Ambrosetto G, Scaduto MC, et al. Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: Polygraphic study of a case. Epilepsia. 2001;42:1074–1077.

    CAS  PubMed  Google Scholar 

  772. Sarkar HR, Hossain MA, Mazumder U, et al. Clinical picture of craniopharyngioma in childhood. Mymensigh M J. 2007;16L:123–126.

    Google Scholar 

  773. Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008;3:9.

    PubMed  Google Scholar 

  774. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet. 1994;6:257–262.

    CAS  PubMed  Google Scholar 

  775. Savini G, Barboni P, Valentino ML, et al. Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber’s hereditary optic neuropathy mutations. Ophthalmology. 2005;112:127–131.

    PubMed  Google Scholar 

  776. Savino PJ. Evaluation of the retinal nerve fiber layer: descriptive or predictive? J Neuroophthalmol. 2009;29(3):245–249.

    PubMed  Google Scholar 

  777. Savoiardo M, Strada L, Girotti F, et al. Olivocere­bellar atrophy: MR diagnosis and relationship to multisystem atrophy. Radiology. 1994;174:693–696.

    Google Scholar 

  778. Saw SM, Gazzard G, Shih-Yen EC, et al. Myopia and associated pathological complications. Ophthalmic Physiol Opt. 2005;25:381–391.

    PubMed  Google Scholar 

  779. Sayli BS, Gul D. GAPO syndrome in three relatives in a Turkish kindred. Am J Med Genet. 1993;47:342–345.

    CAS  PubMed  Google Scholar 

  780. Schimel AM, Mets MB. The natural history of retinal degeneration in association with cobalamin C (cbl C) disease. Ophthalmic Genet. 2006;27:9–14.

    CAS  PubMed  Google Scholar 

  781. Schmack I, Hubbard GB, Kang SJ, et al. Ischemic necrosis and atrophy of the optic nerve after periocular carboplatin injection for intraocular retinoblastoma. Am J Ophthalmol. 2006;142:310–315.

    CAS  PubMed  Google Scholar 

  782. Schollen E, Grünewald S, Keldermans L, et al. CDG-Id caused by homozygnosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter). Eur J Med Genet. 2005;48:153–158.

    CAS  PubMed  Google Scholar 

  783. Schor NF. Nervous system dysfunction in children with paraneoplastic syndromes. J Child Neurol. 1992;7:253–258.

    CAS  PubMed  Google Scholar 

  784. Schramm P, Scheihing M, Rasche D, et al. Behr syndrome variant with tremor treated by VIM stimulation. Acta Neurochir. 2005;147:679–683.

    CAS  Google Scholar 

  785. Schröder JM, Hackel V, Wanders RJ, et al. Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency. Acta Neuropathol. 2004;108:154–167.

    PubMed  Google Scholar 

  786. Schuil J, Meire FM, Delleman JW. Mental retardation in amaurosis congenital of Leber. Neuropediatrics. 1998;29:294–297.

    CAS  PubMed  Google Scholar 

  787. Schwankhaus JD, Parisi JE, Gulledge WR, et al. Hereditary adult-onset Alexander’s disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. Neurology. 1995;45:2266–2271.

    CAS  PubMed  Google Scholar 

  788. Scolding NJ, Kellar-Wood HF, Shaw C, et al. Wolfram syndrome: Hereditary diabetes mellitus with brainstem and optic atrophy. Ann Neurol. 1996;39:352–360.

    CAS  PubMed  Google Scholar 

  789. Scott IU, Flynn HW Jr, Al-Attar L, et al. Bilateral optic disc edema in patients with severe systemic arterial hypertension: Clinical features and visual acuity outcomes. Ophthalmic Surg Lasers Imaging. 2005;36:374–380.

    PubMed  Google Scholar 

  790. Seelenfreund MH, Gartner S, Vinger PF. The ocular pathology of Menkes’ disease. Arch Ophthalmol. 1968;80:718–723.

    CAS  PubMed  Google Scholar 

  791. Seiff SR. Trauma and the optic nerve. Ophthalmol Clin North Am. 1992;5:389–394.

    Google Scholar 

  792. Seiff SR, Brodsky MC, McDonald G, et al. Orbital optic glioma in neurofibromatosis: magnetic reso­nance diagnosis of perineural arachnoidal gliomatosis. Arch Ophthalmol. 1987;105:1689–1692. Copyright © (1987) American Medical Association. All rights reserved.

    CAS  PubMed  Google Scholar 

  793. Semple P, Fieggen G, Parkes J, et al. Giant prolactinomas in adolescence: An uncommon cause of blindness. Childs Nerv Syst. 2007;23:213–217.

    PubMed  Google Scholar 

  794. Senanayake N. A syndrome of early onset spinocerebellar ataxia with optic atrophy, internuclear ophthalmoplegia, dementia, and startle my­oclonus in a Sri Lankan family. J Neurol. 1992;239:293–294. Letter.

    CAS  PubMed  Google Scholar 

  795. Sener RN, Ustun EE, Ozkinay C, et al. Acrome­somelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family. Pediatr Radiol. 1993;23:321–324.

    CAS  PubMed  Google Scholar 

  796. Serdaroglu G, Tekgul H, Kitis O, et al. Correlative value of magnetic resonance imaging for neurodevelopmental outcome in periventricular leukomalacia. Dev Med Child Neurol. 2004;46:733–739.

    PubMed  Google Scholar 

  797. Shah SA. Pituitary apoplexy in adolescence: Case report. Pediatr Radiol. 1995;25:S27-S28.

    Google Scholar 

  798. Shah VA, Randhawa S, Mizen T, et al. You’re too old for that. Surv Ophthalmol. 2008;53:403–410.

    PubMed  Google Scholar 

  799. Shaikh S, Ta C, Basham AA, et al. Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection. Am J Ophthalmol. 2001;131:143–145.

    CAS  PubMed  Google Scholar 

  800. Shankar SP, Fingert JH, Carelli V, et al. Evidence for a novel x-linked modifier locus for Leber hereditary optic neuropathy. Ophthalmic Genet. 2008;29:17–24.

    CAS  PubMed  Google Scholar 

  801. Shapiro BL. Evidence for a mitochondrial lesion in cystic fibrosis. Life Sci. 1989;44:1327–1334.

    CAS  PubMed  Google Scholar 

  802. Shawky RM, Abd el-Monim MT, AA el-Sebai, et al. Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses. East Mediterr Health J. 2001;7:981–991.

    CAS  PubMed  Google Scholar 

  803. Shedden AM, Smith JC, O'Conner PS, et al. The “phantom” optic nerve. J Clin Neuro-Ophthalmol. 1985;5:209–212.

    Google Scholar 

  804. Sheffer RN, Zlotogora J, Elpeleg ON, et al. Behr’s syndrome and 3-methylglutaconic aciduria. Am J Ophthalmol. 1992;114:494–497.

    CAS  PubMed  Google Scholar 

  805. Shimizu S, Mori N, Kishi M, et al. A novel mutation in the OPA1 gene in a Japanese family with optic atrophy type 1. Jpn J Opthalmol. 2002;46:336–340.

    CAS  Google Scholar 

  806. Shimizu S, Mori N, Kishi M, et al. A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. Am J Ophthalmol. 2003;135:256–257.

    PubMed  Google Scholar 

  807. Shokunbi MT, Odebode TO, Agbeja-Baiyeroju AM, et al. A comparison of visual function scores in hydrocephalic infants with and without lumbosacral myelomeningocoele. Eye. 2002;16:739–743.

    CAS  PubMed  Google Scholar 

  808. Shoubridge EA. Cytochrome c oxidase deficiency. Am J Med Genet. 2001;106:46–52.

    CAS  PubMed  Google Scholar 

  809. Shurin SB, Rekate HL, Annable W. Optic atrophy induced by vincristine. Pediatrics. 1982;70:288–291.

    CAS  PubMed  Google Scholar 

  810. Simsek E, Simsek T, Tekgül S, et al. Wolframe (DIDMOAD) syndrome: A multidisciplinary clinical study in nine Turkish patients and review of the literature. Act Paediatr. 2003;92:55–61.

    CAS  Google Scholar 

  811. Sinha S, Satishchandra P, Santosh V, et al. Neuronal ceroid lipofuscinosis: a clinicopathological study. Seizure. 2004;13:235–40.

    PubMed  Google Scholar 

  812. Sitorus RS, Lorenz B, Preising MN. Analysis of three genes in Leber congenital amaurosis in Indonesian patients. Vision Res. 2003;43:3087–3093.

    CAS  PubMed  Google Scholar 

  813. Sly WS, Whyte MP, Sundaram V, et al. Carbonic anhydrase II deficiency in 12 families with the au­tosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcifications. N Engl J Med. 1985;313:139–145.

    CAS  PubMed  Google Scholar 

  814. Small KW, Pollock S, Scheinman J. Optic atrophy in primary oxalosis. Am J Ophthalmol. 1988;106:96–97.

    CAS  PubMed  Google Scholar 

  815. Smith DP. Diagnistic criteria in dominantly inherited optic atrophy: A report of three new families. Am J Optom Physiol Opt. 1972;49:183–200.

    CAS  Google Scholar 

  816. Smith DP. The assessment of acquired dyschromatopsia and clinical investigation of the acquired trian defect in dominantly inherited juvenile optic atrophy. Am J Optom Physiol Opt. 1972;49:574–588.

    CAS  Google Scholar 

  817. Smith DP, Cole BL, Isacs I. Congenital tritanopia without neuroretinal disease. Invest Ophthalmol. 1973;12:608–617.

    CAS  PubMed  Google Scholar 

  818. Smith CJ, Crock PA, King BR, et al. Phenotype-genotype correlations in a series of wolfram syndrome families. Diabetes Care. 2004;27:2003–2009.

    PubMed  Google Scholar 

  819. Smith JL, Hoyt WF, Susac JO. Ocular fundus in acute Leber optic neuropathy. Arch Ophthalmol. 1973;90:349–354.

    CAS  PubMed  Google Scholar 

  820. Smith KH, Johns DR, Heher KL, et al. Hetero­plasmy in Leber’s hereditary optic neuropathy. Arch Ophthalmol. 1993;111:1486–1490.

    CAS  PubMed  Google Scholar 

  821. Smith DW, Lemli L, Opitza JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr. 1964;64:210–217.

    CAS  PubMed  Google Scholar 

  822. Somer M, Sainio K. Epilepsy and the electroen­cephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome). Epilepsia. 1993;34(4):727–731.

    CAS  PubMed  Google Scholar 

  823. Somer M, Salonen O, Pihko H, et al. PEHO syn­drome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): Neuroradiologic findings. AJNR Am J Neuroradiol. 1993;14:861–867.

    CAS  PubMed  Google Scholar 

  824. Somer M, Salonen O, Pihko H, et al. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy) (PEHO) syndrome. Neuropediatrics. 2002;33:100–104.

    PubMed  Google Scholar 

  825. Sorajja P, Sweeney MG, Chalmers R, et al. Cardiac abnormalities in patients with Leber’s hereditary optic neuropathy. Heart. 2004;89:791–792.

    Google Scholar 

  826. Spalton DJ, Taylor DSI, Sanders MD. Juvenile Batten’s disease; and ophthalmological assessment of 26 patients. Br J Ophthalmol. 1980;64:726–732.

    CAS  PubMed  Google Scholar 

  827. Sperli D, Concolino D, Barbato C, et al. Long sur­vival of a patient with Marshall–Smith syndrome without respiratory complications. J Med Genet. 1993;30(10):877–879.

    CAS  PubMed  Google Scholar 

  828. Spruijt L, Kolbach DN, de Coo RF, et al. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 2006;141:676–682.

    PubMed  Google Scholar 

  829. Stannard C, Sealy R, Hering E, et al. Postenucleation orbits in retinoblastoma: Treatment with 125I brachytherapy. Int J Radiat Oncol Biol Phys. 2002;54:1446–1454.

    PubMed  Google Scholar 

  830. Stark KL, Kaufman B, Lee BC, et al. Visual recovery after a year of craniopharyngioma-related amaurosis: Report of a nine-year-old child and a review of pathophysiologic mechanisms. J AAPOS. 1999;3:366–371.

    CAS  PubMed  Google Scholar 

  831. Stavrou P, Baltatzis S, Letko E, et al. Pars plana vitrectomy in patients with intermediate uveitis. Ocul Immunol Inflamm. 2001;9:141–151.

    CAS  PubMed  Google Scholar 

  832. Steinsapir KD. Treatment of traumatic optic neuropathy with high-dose corticosteroid. J Neuroophthalmol. 2006;26:65–67.

    PubMed  Google Scholar 

  833. Stern J, Jakobiec FA, Housepian EM. The architecture of optic nerve gliomas with and without neu­rofibromatosis. Arch Ophthalmol. 1980;98:505–511.

    CAS  PubMed  Google Scholar 

  834. Steward CG. Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol. 2003;29:87–97.

    CAS  PubMed  Google Scholar 

  835. Stöhr H, Klein J, Gehrig A, et al. Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): Assessment of its role in dominant optic atrophy (OPA1). Hum Genet. 1999;104:99–105.

    PubMed  Google Scholar 

  836. Stojanov S, Weiss M, Lohse P, et al. A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapy. Pediatrics. 2004;114:e124–127.

    PubMed  Google Scholar 

  837. Stokkermans TJ. Diffuse unilateral subacute neuroretinitis. Optom Vis Sci. 1999;76:444–454.

    CAS  PubMed  Google Scholar 

  838. Stone EM, Newman NJ, Miller NR, et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol. 1992;12:10–14.

    CAS  PubMed  Google Scholar 

  839. Strassberg R, Brand N, Gadoth N. 3-methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. Neuropediatrics. 1998;29:54–56.

    Google Scholar 

  840. Strom TM, Hörtnagel K, Hofmann S, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7:2021–2028.

    CAS  PubMed  Google Scholar 

  841. Stromland K. Eyeground malformations in the fetal alcohol syndrome. Birth Defects. 1982;18(6):651–655.

    Google Scholar 

  842. Subramony SH, Filla A. Autosomal dominant spinocerebellar ataxias and infinitum? Neurology. 2001;56:287–289.

    CAS  PubMed  Google Scholar 

  843. Sugita S, Hirohata M, Tokutomi T, et al. A case of pituitary apoplexy in a child. Surg Neurol. 1995;43:154–157.

    CAS  PubMed  Google Scholar 

  844. Sullivan TJ, Heathcote JG, Brazel SM, et al. The ocular pathology in Leber's congenital amaurosis. Aust NZ J Ophthalmol. 1994;22:25–31.

    CAS  Google Scholar 

  845. Sullivan TJ, Lambert SR, Buncic JR, et al. The optic discs in Leber congenital amaurosis. J Pediatr Ophthalmol Strabismus. 1992;29:246–249.

    CAS  PubMed  Google Scholar 

  846. Sullu Y, Yildiz L, Erkan D. Submacular surgery for choroidal neovascularization secondary to optic nerve drusen. Am J Ophthalmol. 2003;136:367–370.

    PubMed  Google Scholar 

  847. Swaiman KF. Hallervorden–Spatz syndrome and brain iron metabolism. Arch Neurol. 1991;48:1285–1293.

    CAS  PubMed  Google Scholar 

  848. Swaroop A, Wang QL, Wu W, et al. Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: Direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet. 1999;8:299–305.

    CAS  PubMed  Google Scholar 

  849. Sweetman L, Weyler W, Shafai T, et al. Prenatal diagnosis of propionic acidemia. JAMA. 1979;242:1048–1052.

    CAS  PubMed  Google Scholar 

  850. Sylvestor PE. Some unusual findings in a family with Friedreich ataxia. Arch Dis Child. 1958;33:217–221.

    Google Scholar 

  851. Szedelyova L, Vaisova Z. Dominant infantile optic nerve atrophy. Cesk Oftalmol. 1989;45:440–444.

    CAS  PubMed  Google Scholar 

  852. Taban M, Cohen BH, David Rothner A, et al. Association of optic nerve hypoplasia with mitochondrial cytopathies. J Child Neurol. 2006;21:956–960.

    PubMed  Google Scholar 

  853. Tambe KA, Ambekar SV, Bafna PN. Delleman (oculocerebrocutaneous) syndrome: Few variations in a classic case. Eur J Paediatr Neurol. 2003;7:77–80.

    PubMed  Google Scholar 

  854. Tarnaris A, Edwards RJ, Lowis SP, et al. Atypical external hydrocephalus with visual failure due to occult leptomeningeal dissemination of a pontine glioma: Case Report. J Neurosurg. 2005;102(2 Suppl):224–227.

    PubMed  Google Scholar 

  855. Tay T, Martin F, Rowe N, et al. Prevalence and causes of visual impairment in craniosynostotic syndromes. Clin Experiement Ophthalmol. 2006;34:434–440.

    Google Scholar 

  856. Taylor DR. Congenital tumors of the anterior vi­sual system with dysplasia of the optic discs. Br J Ophthalmol. 1982;66:455.

    CAS  PubMed  Google Scholar 

  857. Taylor D. Ophthalmological features of some human hereditary disorders with demyelination. Bull Soc Beige Ophtal. 1983;208-209:405–413.

    Google Scholar 

  858. Teebi AS, Miller S, Ostrer H, et al. Spastic paraplegia, optic atrophy, microencephaly with normal intelligence, and XY sex reversal: A new autosomal syndrome? J Med Genet. 1998;20:143–148.

    Google Scholar 

  859. Tekgül S, Oge O, Simşek E, et al. Urological manifestations of the Wolfram syndrome: Observations in 14 patients. J Urol. 1999;161:616–617.

    PubMed  Google Scholar 

  860. Tekgül H, Tütüncüoğlu S. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child. Turk J Pediatr. 2000;42:246–249.

    PubMed  Google Scholar 

  861. Terraciano AJ, Sidoti PA. Management of refractory glaucoma in childhood. Curr Opin Ophthalmol. 2002;13:97–102.

    PubMed  Google Scholar 

  862. Tessa A, Carbone I, Matteoli MC, et al. Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat. 2001;17:348–349.

    CAS  PubMed  Google Scholar 

  863. Thieme H, Wissinger B, Jandeck C, et al. A pedigree of Leber’s hereditary optic neuropathy with visual loss in childhood, primarily in girls. Graefes Arch Clin Exp Ophthalmol. 1999;237:714–719.

    CAS  PubMed  Google Scholar 

  864. Thiselton DL, Alexander C, Taanman JW, et al. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci. 2002;43:1715–1724.

    PubMed  Google Scholar 

  865. Thomas M, Hayflick SJ, Jankovic J. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallevorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Mov Disord. 2004;19:36–42.

    PubMed  Google Scholar 

  866. Thomas PK, Workman JM, Thage O. Behr’s syndrome. A family exhibiting pseudodominant inheritance. J Neurol Sci. 1984;64:137–148.

    CAS  PubMed  Google Scholar 

  867. Thomson AP, Neugebauer M, Fryer A. Autosomal dominant optic atrophy with unilateral facial palsy: A new hereditary condition? J Med Genet. 1999;36:251–252.

    CAS  PubMed  Google Scholar 

  868. Thuente DD, Buckley EG. Pediatric optic nerve sheath decompression. Ophthalmology. 2005;112:724–727.

    PubMed  Google Scholar 

  869. Till JS, Roach ES, Burton BK. Sialidosis (neu­raminidase deficiency) types I and II: neuro-ophthalmic manifestations. J Clin Neuro-Ophthalmol. 1987;7(1):40–44.

    CAS  Google Scholar 

  870. Timoney P, Darcy F, McCreery K, et al. Characterization of optical coherence topography findings in Kenny-Caffey syndrome. J AAPOS. 2007;11:291–293.

    PubMed  Google Scholar 

  871. Toker E, Seitz B, Langenbucher A, et al. Penetrating keratoplasty for endothelial decompensation in eyes with buphthalmos. Cornea. 2003;22:198–204.

    PubMed  Google Scholar 

  872. Tong L, Saw SM, Chua WH, et al. Optic disk and retinal characteristics in myopic children. Am J Ophthalmol. 2004;138:160–162.

    PubMed  Google Scholar 

  873. Towbin R, Garcia-Revillo J, Fitz C. Orbital hydrocephalus: A proven cause for optic atrophy. Pediatr Radiol. 1998;28:995–997.

    CAS  PubMed  Google Scholar 

  874. Traboulsi EI, DeBecker I, Maumenee IH. Ocular findings in Cockayne syndrome. Am J Ophthalmol. 1992;114:579–583.

    CAS  PubMed  Google Scholar 

  875. Traboulsi EI, Maumenee IH. Opthalmologic manifestations of X-linked childhood adrenoleukodystrophy. Ophthalmology. 1987;94:47–52.

    CAS  PubMed  Google Scholar 

  876. Traboulsi EI, Maumenee IH, Green WR, et al. Olivopontocerebellar atrophy with retinal degeneration. A clinical and ocular histopathologic study. Arch Ophthalmol. 1988;106:801.

    CAS  PubMed  Google Scholar 

  877. Traboulsi EI, Silva JC, Geraghty MT, et al. Ocular histopathologic characteristics of cobalamin C type vitamin B12 defect with methylmalonic aciduria and homocystinuria. Am J Ophthalmol. 1992;113:269–280.

    CAS  PubMed  Google Scholar 

  878. Tranebjaerg L, Hamel BC, Gabreels FJ, et al. A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. Eur J Hum Genet. 2000;8:464–467.

    CAS  PubMed  Google Scholar 

  879. Trautner C, Haastert B, Richter B, et al. Incidence of blindness in southern Germany due to glaucoma and degenerative conditions. Invest Ophthalmol Vis Sci. 2003;44:1031–1034.

    PubMed  Google Scholar 

  880. Treft RL, Sanborn GE, Carey J, et al. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. Ophthalmology. 1984;91:908–915.

    CAS  PubMed  Google Scholar 

  881. Trisciuzzi MT, Riccardi R, Piccardi M, et al. A fast visual evoked potential method for functional assessment and follow-up of childhood optic gliomas. Clin Neurophysiol. 2004;115:217–226.

    PubMed  Google Scholar 

  882. Trobe JD, Glaser JSS, Cassady JC. Optic atrophy: differential diagnosis by fundus observation alone. Arch Ophthalmol. 1980;98:1040–1045.

    CAS  PubMed  Google Scholar 

  883. Troelstra C, van Gool A, de Wit J, et al. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne’s syndrome and preferential repair of active genes. Cell. 1992;71:939–953.

    CAS  PubMed  Google Scholar 

  884. Tsina EK, Marsden DL, Hansen RM, et al. Maculopathy and retinal degeneration in cobalamin c Methymalonic aciduria and homocystinuria. Arch Ophthalmol. 2005;123:1143–1145.

    PubMed  Google Scholar 

  885. Tugal-Tutkun I, Ozyazgan Y, Akova YA, et al. The spectrum of Vogt-Koyanagi-Harada disease in Turkey: VKH in Turkey. Int Ophthalmol. 2007;27:117–123.

    PubMed  Google Scholar 

  886. Tugal-Tutkun I, Urgancioglu M. Childhood-onset uveitis in Behçet disease: A descriptive study of 36 cases. Am J Ophthalmol. 2003;136:1114–1119.

    PubMed  Google Scholar 

  887. Tulinius M, Moslemi AR, Darin N, et al. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. Neuropediatrics. 2003;34:87–91.

    CAS  PubMed  Google Scholar 

  888. Tullu MS, Muranjan MN, Kondurkar PP, et al. Krabbe disease: Clinical profile. Indian Pediatr. 2000;37:939–946.

    CAS  PubMed  Google Scholar 

  889. Tuppurainen K, Herrgard E, Martikainen A, et al. Ocular findings in prematurely born children at 5 years of age. Graefes Arch Clin Exp Ophthalmol. 1993;231:261–266.

    CAS  PubMed  Google Scholar 

  890. Turbin RE, St. Louis L, Barr D, et al. Monocular band optic atrophy. J Neuroophthalmol. 1998;18:242–245.

    CAS  PubMed  Google Scholar 

  891. Tusa RJ, Hove MT. Ocular and oculomotor signs in Joubert syndrome. J Child Neurol. 1999;14:621–627.

    CAS  PubMed  Google Scholar 

  892. Twigg SR, Kan R, Babbs C, et al. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause cause craniofrontonasal syndrome. Proc Natl Acad Sci USA. 2004;101:8652–8657.

    CAS  PubMed  Google Scholar 

  893. Tzekov C, Cherninkova S, Gudeva T. Neurooph­thalmological symptoms in children treated for in­ternal hydrocephalus. Pediatr Neurosurg. 1991-1992;17(6):317–320.

    Google Scholar 

  894. Udar N, Yelchits S, Chalukya M, et al. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. Hum Mutat. 2003;21:170–171.

    PubMed  Google Scholar 

  895. Ugalde C, Triepels RH, Coenen MJ, et al. Imparied complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol. 2003;54:665–669.

    CAS  PubMed  Google Scholar 

  896. Unsold R, Hoyt WF. Band atrophy of the optic nerve. The histology of temporal hemianopsia. Arch Ophthalmol. 1980;98 (Sept):1637–1638.

    Google Scholar 

  897. Vaegan, Hollows FC. Visual-evoked response, pattern electroretinogram, and psychophysical magnocellular thresholds in glaucoma, optic atrophy, and dyslexia. Optom Vis Sci. 2006;83:486–498.

    CAS  PubMed  Google Scholar 

  898. Vaher U, Napa A, Nurmiste A, et al. Four siblings with Hallevorden-Spatz disease. Brain Dev. 2001;23:236–239.

    CAS  PubMed  Google Scholar 

  899. Valentino ML, Avoni P, Barboni P, et al. Mitochondrial DNA nucleotide changes C14482A in the ND6 gene are pathogenic for Leber’s hereditary optic neuropathy. Ann Neurol. 2002;51:774–778.

    CAS  PubMed  Google Scholar 

  900. Van Coster RN, Lombes A, DeVivo DC, et al. Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations. J Neurol Sci. 1991;104:97–111.

    PubMed  Google Scholar 

  901. Van Den Ouweland JM, Cryns K, Pennings RJ, et al. Molecular characterization of WFS1 in patients with Wolfram syndrome. J Mol Diagn. 2003;5:88–95.

    Google Scholar 

  902. Van-den-Berge JH, Blaauw G, Breeman WA, et al. Intracavitary brachytherapy of cystic cranio­pharyngiomas. J Neurosurg. 1992;77(4):545–550.

    CAS  PubMed  Google Scholar 

  903. Van-den-Bergh L, Zeyen T, Verhelst J, et al. Wol­fram syndrome: A clinical study of two cases. Doc Ophthalmol. 1993;84(2):119–126.

    CAS  PubMed  Google Scholar 

  904. Vanhatalo S, Riikonen R. Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Epilepsia. 2000;41:705–708.

    CAS  PubMed  Google Scholar 

  905. Vanhatalo S, Somer M, Barth PG. Dutch patients with progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome. Neuropediatrics. 2002;33:100–104.

    CAS  PubMed  Google Scholar 

  906. Vedantham V, Jethani J, Vijayalakshmi P. Electroretinographic assessment and diagnostic reappraisal of children with visual dysfunction: a prospective study. Indian J Ophthalmol. 2007;55:113–116.

    PubMed  Google Scholar 

  907. Verhoeven K, Claeys KG, Züchner S, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2. Brain. 2006;129:2093–2102.

    PubMed  Google Scholar 

  908. Verloes A, Bremond-Gignac D, Isidor B, et al. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delination of two new BMR syndromes, one X-linked and one autosomal-recessive. Am J Med Genet. 2006;140:1285–1296.

    PubMed  Google Scholar 

  909. Verny C, Amati-Bonneau P, Dubas F, et al. An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs. Rev Neurol (Paris). 2005;161:451–454. French.

    CAS  Google Scholar 

  910. Vijayalakshmi P, Srivastava KK, Poornima B, et al. Visual outcome of cataract surgery in children with congenital rubella syndrome. J AAPOS. 2003;7:91–95.

    PubMed  Google Scholar 

  911. Vikki J, Ott J, Savontaus ML, Aula P, et al. Optic atrophy in Leber's hereditary optic neuropathy is probably determined by an X-chromosome gene closely linked to DXS7. Am J Hum Genet. 1991;48:486–491.

    Google Scholar 

  912. Villanueva-Mendoza C, Martínez-Guzmán O, Rivera-Parra D, Zenteno JC. Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. Ophthalmic Genet. 2009;30:45–49.

    CAS  PubMed  Google Scholar 

  913. Vinkler C, Lev D, Kalish H, et al. Familial optic atrophy with white matter changes. Am J Med Genet. 2003;121A:263–265.

    PubMed  Google Scholar 

  914. Volker-Dieben HJ, Van Lith GH, Went LN, et al. A family with sex-linked optic atrophy (ophthalmological and neurological aspects). Doc Ophthalmol. 1974;37:307–326.

    Google Scholar 

  915. Volpe JJ. Neurology of the newborn. Philadelphia, PA: WB Saunders; 1987.

    Google Scholar 

  916. Volpe NJ, Lessell S. Leber’s hereditary optic neuropathy. Int Ophthalmol Clin. 1993;33:153–168.

    CAS  PubMed  Google Scholar 

  917. Voo I, Allf BE, Udar N, et al. Hereditary motor and sensory neuropathy type VI with optic atrophy. Am J Ophthalmol. 2003;136:670–677.

    PubMed  Google Scholar 

  918. Votruba M, Fitzke FW, Holder GE, et al. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol. 1998;116:351–358.

    CAS  PubMed  Google Scholar 

  919. Votruba M, Thiselton D, Bhattacharya SS. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol. 2003;87:48–53.

    CAS  PubMed  Google Scholar 

  920. Vougioukas VI, Berlis A, Kopp MV, et al. Neurosurgical interventions in children with Maroteaux-Lamy syndrome: Case report and review of the literature. Pediatr Neurosurg. 2001;35:35–38.

    CAS  PubMed  Google Scholar 

  921. Waardenburg PJ. Different types of hereditary optic atrophy. Acta Genet Statist Med. 1957;7:287–290.

    CAS  PubMed  Google Scholar 

  922. Wajntal A, Koiffmann CP, Mendonca BB, et al. GAPO syndrome - a connective tissue disorder: report of two affected sibs and on the pathologic findings in the older. Am J Med Genet. 1990;37:213–223.

    CAS  PubMed  Google Scholar 

  923. Wakai S, Asanuma H, Tachi N, et al. Infantile neuroaxonal dystrophy. Pediatr Neurol. 1993;9:309–311.

    CAS  PubMed  Google Scholar 

  924. Wakamura M, Yokoe J. Evidence for preserved direct papillary light response in Leber’s hereditary optic neuropathy. Br J Ophthalmol. 1995;79:442–446.

    Google Scholar 

  925. Walsh FB, Hoyt WF. Clinical Neuro-Ophthalmology, 3rd ed. Vol 1. Baltimore, Williams & Wilkins, 1969;494.

    Google Scholar 

  926. Wang JY, Gu YS, Wang J, et al. Oxidative stress in Chinese patients with Leber’s hereditary optic neuropathy. J Int Med Res. 2008;36:544–550.

    CAS  PubMed  Google Scholar 

  927. Wang PJ, Young C, Lui HM. Neurophysiologic studies and MRI in Pelizaeus-Merzbacher disease: Comparision of classic and connatal forms. Pediatr Neurol. 1995;12:47–53.

    CAS  PubMed  Google Scholar 

  928. Warner TT, Hammans SR. Practical Neurogenetics. Philadelphia, PA: Saunders Elsevier; 2009:92–101.

    Google Scholar 

  929. Warner RB, Lee AG. Leber hereditary optic neuropathy associated with use of ephedra alkaloids. Am J Ophthalmol. 2002;134:918–920.

    PubMed  Google Scholar 

  930. Webb C, Prayson RA. Pediatric pituitary adenomas. Arch Pathol Lab Med 2008;132(1):77–80.

    PubMed  Google Scholar 

  931. Weber P, Scholl S, Baumgartner ER. Outcome in patients with profound biotinidase deficiency: relevance of newborn screening. Dev Med Child Neurol. 2004;46:481–484.

    PubMed  Google Scholar 

  932. Weiner HL, Wisoff JH, Rosenberg ME. Cranio­pharyngiomas: a clinicopathological analysis of factors predictive of recurrence and functional outcome. Neurosurgery. 1994;6:1001–1011.

    Google Scholar 

  933. Weisman JS, Hepler RS, Vinters HV. Reversible visual loss caused by fibrous dysplasia. Am J Ophthalmol. 1990;110:244–249.

    CAS  PubMed  Google Scholar 

  934. Weleber RG. Infantile and childhood retinal blindness: A molecular perspective (the Franceschetti Lecture). Opthalmic Genet. 2002;23:71–97.

    Google Scholar 

  935. Weleber RG, Eisner A. Cone degeneration (“bull’s eye dystrophies”) and color vision defects. In: Newsome DA, ed. Retinal Dystrophies and Degenerations. New York: Raven Press; 1988:233–256.

    Google Scholar 

  936. Weleber RG, Miyake Y. Familial optic atrophy with negative electroretinograms. Arch Ophthalmol. 1992;110:640–645.

    CAS  PubMed  Google Scholar 

  937. Wertenbaker C, Gutman I. Unusual visual symptoms. Surv Ophthalmol. 1985;29:297–299.

    CAS  PubMed  Google Scholar 

  938. Westall CA, Ainsworth JR, Buncic JR. Which ocular and neurologic conditions cause disparate results in visual acuity scores recorded with visually evoked potential and teller acuity cards? J AAPOS. 2000;4:295–301.

    CAS  PubMed  Google Scholar 

  939. Weyand RD, Criag WM, Rucker CW. Unusual le­sions involving the optic chiasm. Proc Staff Meet Mayo Clin. 1952;27:505–511.

    Google Scholar 

  940. Wild JM, Martinez C, Reinshagen G, et al. Characteristics of a unique visual field defect attributed to vigabatrin: epidemiology and therapeutic implications. Epilepsia. 1999;40:1784–1794.

    CAS  PubMed  Google Scholar 

  941. Wilichowski E, Ohlenbusch A, Hanefield F. Characterization of the mitochondrial genome in childhood multiple sclerosis. II. Multiple sclerosis without optic neuritis and LHON-associated genes. Neuropediatrics. 1998;29:307–312.

    CAS  PubMed  Google Scholar 

  942. Wilkinson ME. Ceroid lipofuscinosis, neuronal 3, Juvenile-Batten disease: Case report and literature review. Optometry. 2001;72:724–728.

    CAS  PubMed  Google Scholar 

  943. Williams ZR, Hurley PE, Altiparmak UE, et al. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. 2009;147:929–933.

    CAS  PubMed  Google Scholar 

  944. Wilne S, Collier J, Kennedy C, et al. Presentation of childhood CNS tumours: A systematic review and meta-analysis. Lancet Oncol. 2007;8:685–695.

    PubMed  Google Scholar 

  945. Wilson J. Leber’s hereditary optic atrophy: Some clinical and etiological considerations. Brain. 1963;86:347–362.

    CAS  PubMed  Google Scholar 

  946. Wilson WB. The visual system manifestations of adrenoleukodystrophy. Neuroophthalmology. 1981;1:175–183.

    Google Scholar 

  947. Wolf B, Hsia YE, Sweetman L, et al. Propionic acidemia: A clinical update (review). J Pediatr. 1981;99:835–846.

    CAS  PubMed  Google Scholar 

  948. Wolfram DJ. Diabetes mellitus and simple optic at­rophy among siblings. Report of 4 cases. Mayo Clin Proc. 1938;13:715–718.

    Google Scholar 

  949. Wong VC, Sun JG, Yeung DW. Pilot study of efficacy of tongue and body acupuncture in children with visual impairment. J Child Neurol. 2006;21:463–473.

    PubMed  Google Scholar 

  950. Wray SH, Cogan DG, Kuwabara T, et al. Adrenoleukodystrophy with disease of the eye and optic nerve. Am J Ophthalmol. 1976;82:480–485.

    CAS  PubMed  Google Scholar 

  951. Wray SH, Kuwabara T, Sanderson P. Menkes’ kinky hair disease: A light and electron microscopic study of the eye. Invest Ophthalmol Vis Sci. 1976;15:128–138.

    CAS  Google Scholar 

  952. Wright JE, McNab AA, McDonald WI. Optic nerve glioma and the management of optic nerve tumors in the young. Br J Ophthalmol. 1989;73:967–974.

    CAS  PubMed  Google Scholar 

  953. Wright JE, McNab AA, McDonald WI. Primary optic nerve sheath meningioma. Br J Ophthalmol. 1989;73:960–966.

    CAS  PubMed  Google Scholar 

  954. Wu HJ, Tsai RK. Ocular manifestations in children with develop-mental delay preliminary report. Kaohsiung J Med Sci. 2000;16:422–428.

    CAS  PubMed  Google Scholar 

  955. Yamada T, Hayasaka S, Matsumoto M, et al. OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484. Jpn J Ophthalmol. 2003;47:409–411.

    CAS  PubMed  Google Scholar 

  956. Yan J, Wu Z, Li Y. The differentiation of idiopathic inflammatory pseudotumor from lymphoid tumors of orbit: analysis of 319 cases. Orbit. 2004;23:245–254.

    PubMed  Google Scholar 

  957. Yang MS, Chen CC, Cheng YY, et al. Imaging characteristics of familial Wolfram syndrome. J Formos Med Assoc. 2005;104:129–132.

    PubMed  Google Scholar 

  958. Yang Y, Li C, Qi Z, et al. Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients. J Child Neurol. 2007;22:156–160.

    PubMed  Google Scholar 

  959. Yen MY, Chen CS, Wang AG, et al. Increase of mitochondrial DNA in blood cells of patients with Leber’s hereditary optic neuropathy with 11778 mutation. Br J Opthalmol. 2002;86:1027–1030.

    Google Scholar 

  960. Yen MY, Kao SH, Wang AG, et al. Increased 8-hydroxy-2’-deoxyguanosine in leukocyte DNA in Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci. 2004;45:1688–91.

    PubMed  Google Scholar 

  961. Yen MY, Lee HC, Wang AG, et al. Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber’s hereditary optic neuropathy. Jpn J Ophthalmol. 1999;43:196–200.

    CAS  PubMed  Google Scholar 

  962. Yen MY, Wang AG, Chang WL, et al. False positive molecular diagnosis of Leber’s hereditary optic neuropathy. Zhonghua Yi Xue Za Zhi (Taipei). 2000;63:864–868.

    CAS  Google Scholar 

  963. Yen MY, Wang AG, Chang WL, et al. Leber’s hereditary optic neuropathy: The spectrum of mitochondrial DNA mutations in Chinese patients. Jpn J Ophthalmol. 2002;46:45–51.

    CAS  PubMed  Google Scholar 

  964. Yoshioka M, Kuroki S, Kondo T. Ocular manifes­tations in Fukuyama type congenital muscular dystrophy. Brain Dev. 1990;12(4):423–426.

    CAS  PubMed  Google Scholar 

  965. Yuksel D, Senbil N, Yilmaz D, et al. Devic’s neuromyelitis optica in an infant case. J Child Neurol. 2007;22:1143–1146.

    PubMed  Google Scholar 

  966. Yun YM, Lee SN. A case report of Sandhoff disease. Korean J Ophthalmol. 2005;19:68–72.

    PubMed  Google Scholar 

  967. Zachmann M, Illig R. Precocious puberty after surgery for craniopharyngioma. J Pediatr. 1979;95:86–88.

    CAS  PubMed  Google Scholar 

  968. Zafeirou DI, Kontopoulos EE, Michelakakis HM, et al. Neurophysiology and MRI in late-infantile metachromatic leukodystrophy. Pediatr Neurol. 1999;21:843–846.

    Google Scholar 

  969. Zervos A, Hunt KE, Tong HQ, et al. Clinical, genetic and histopathologic findings in two siblings with muscle–eye–brain disease. Eur J Ophthalmol. 2002;12:253–261.

    CAS  PubMed  Google Scholar 

  970. Zhou X, Wei Q, Yang L, et al. Leber’s hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families. Biochem Biophys Res Commun. 2006;340:69–75.

    CAS  PubMed  Google Scholar 

  971. Zimmerman CF, Schatz NJ, Glaser JS. Magnetic resonance imaging of optic nerve meningiomas. Ophthalmology. 1990;97:585–591.

    CAS  PubMed  Google Scholar 

  972. Züchner S, De Jonghe P, Jordanova A, et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 2006;59:276–281.

    PubMed  Google Scholar 

  973. Zumrová A, Krepelová A, Kyncl M, et al. First cases in the Czech Republic of the Hallevorden-Spatz disease resulting from mutation in the pantothenate kinase 2 gene. Neuro Endocrinol Lett. 2005;26:213–218.

    PubMed  Google Scholar 

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Brodsky, M.C. (2010). Optic Atrophy in Children. In: Pediatric Neuro-Ophthalmology. Springer, New York, NY. https://doi.org/10.1007/978-0-387-69069-8_4

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