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Malformations and Anomalies of the Eye

  • D. J. Apple
  • G. O. H. Naumann

Abstract

Many of the malformations of the eye can be classified as to their time of onset in relation to distinct time periods during gestation* (Fig. 3–1). Certain noxious agents, e.g., x-rays, pharmacologic agents, or chromosomal defects, have their greatest effects at certain times or are correlated with anomalies in development of various parts of the eye which normally occur during certain time periods. In this chapter we describe several congenital malformations which affect the eye as a whole. Malformations affecting the various anatomic substructures of the eye are further discussed in the appropriate chapters.

Keywords

Optic Disc Optic Nerve Head High Myopia Ocular Pathology Optic Vesicle 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Acers TE, Coston TO: Persistent hyperplastic primary vitreous. Am J Ophthalmol 63:734, 1967Google Scholar
  2. 2.
    Ahmad A, Pruett R: The fundus in mongolism. Arch Ophthal 94:772, 1976PubMedGoogle Scholar
  3. 3.
    Alkemade PPH: Dysgenesis Mesodermalis of the Iris and the Cornea. Thomas, Springfield, IL, 1969Google Scholar
  4. 4.
    Andersen SR, Bro-Rasmussen F, Tygstrup I: Anencephaly related to ocular development and malformation. Am J Ophthalmol 64:559, 1967PubMedGoogle Scholar
  5. 5.
    Apple DJ: Chromosome-induced ocular disease. In Goldberg MF (ed): Genetic and Metabolic Eye Disease, pp. 527–550. Little, Brown, Boston, 1974Google Scholar
  6. 6.
    Apple DJ: Der Angeborene Anophthalmus. Klin Monatsbl Augenheilkd p. 120, 1983Google Scholar
  7. 7.
    Apple DJ: New aspects of colobomas and optic nerve anomalies. Int Ophthalmol Clin 24:109, 1984PubMedGoogle Scholar
  8. 8.
    Apple DJ: Pathologie des Nervus Opticus unter besonderer Berücksichtigung kolobomatöser Anomalien. Fortschr Ophthalmol 80:19, 1983PubMedGoogle Scholar
  9. 9.
    Apple DJ: Über angeborene Kolobome. Klin Monatsbl Augenheilkd 174:649, 1979PubMedGoogle Scholar
  10. 10.
    Apple DJ, Bennett TO: Multiple systemic and ocular malformations associated with maternal LSD usage. Arch Ophthalmol 92:301, 1974PubMedGoogle Scholar
  11. 11.
    Apple DJ, Boutros GJ: Visual impairments. In Abroms KI, Bennett JW (eds): New Directions for Exceptional Children: Genetics and Exceptional Children. Jossey-Bass, San Francisco, 1981Google Scholar
  12. 12.
    Apple DJ, Dagher CJ, Shammas HF, Miller K: Anomalous intraocular and periocular formation of adipose tissue. Am J Ophthalmol 94:344, 1982PubMedGoogle Scholar
  13. 13.
    Apple DJ, Gieser S, Carey J: Pathology of chromosome-induced ocular disease. In Goldberg M, Renie W (eds): Genetic and Metabolic Eye Disease, ed. 2. Little, Brown, Boston, 1985Google Scholar
  14. 14.
    Apple DJ, Holden J, Stallworth B: Ocular pathology of Patau’s syndrome with an unbalanced D/D translocation. Am J Ophthalmol 70:383, 1970PubMedGoogle Scholar
  15. 15.
    Apple DJ, Rabb MF: Ocular Pathology, Clinical Applications and Self-Assessment, ed. 3. Mosby, St. Louis, 1985Google Scholar
  16. 16.
    Apple DJ, Rabb MF, Walsh PM: Congenital anomalies of the optic disc. Surv Ophthalmol 27:3, 1982PubMedGoogle Scholar
  17. 17.
    Apple DJ, Vastine DW, Crouch ER, et al: Extreme microphthalmia with unique anterior prolapse of neuroectodermal tissue. J Pediatr Ophthalmol (in preparation)Google Scholar
  18. 18.
    Arstikaitis MJ: Synophthalmia; a case report. J Pediatr Ophthalmol Strabismus 17:412, 1980PubMedGoogle Scholar
  19. 19.
    Babel J: Microphthalmie associée à une microcéphalie et à un pseudohermaphrodisme (Typus Rostockiensis). Arch Ophthalmol (Paris) 27:464–476, 1967Google Scholar
  20. 20.
    Badtke G: Die Missbildungen des menschlichen Auges. In Velhagen K (ed): Der Augenarzt, Vol. 4. Thieme, Stuttgart, 1961Google Scholar
  21. 21.
    Badtke G: Über das Wesen und die Genese der sogenannten atypischen Kolobome der inneren Augenhäute und des Sehnerven. Klin Monatsbl Augenheilkd 131:1, 1957Google Scholar
  22. 22.
    Badtke G: Über verschiedene Formen der Funduskolobome. Klin Monatsbl Augenheilkd 138:176, 1961Google Scholar
  23. 23.
    Badtke G, Citoler C, Degenhardt KH, et al: Genetik. Ein Beitrag zur Ätiologie okularer Missbildungen. Buch des Augenarztes. Beih. d. Klin. Mbl. Augenhk., H. 50. Stuttgart: Enke 1968Google Scholar
  24. 24.
    Bard LA: Heterogeneity in Waardenburg’s syndrome: report of a family with ocular albinism. Arch Ophthalmol 96:1193–1198, 1978PubMedGoogle Scholar
  25. 25.
    Barsewisch B von: Die Myopie als Syndrom. Munch Med Wochenschr 115:1377, 1973Google Scholar
  26. 26.
    Batts JA, Punnett HH, Valdes-Depena J, et al: A case of cyclopia. Am J Obstet Gynecol 112:657, 1972PubMedGoogle Scholar
  27. 27.
    BenEzra D, Mengistu F, Cividalli G, et al: Chédiak-Higashi syndrome: ocular findings. J Pediatr Ophthalmol Strabismus 17:68–74, 1980PubMedGoogle Scholar
  28. 28.
    Bisland T: Vascular loops in the vitreous. Arch Ophthalmol 49:514, 1953Google Scholar
  29. 29.
    Bloch-Michel E: Physiopathology of Fuchs’ heterochromic cyclitis. Trans Ophthalmol Soc UK 101:384, 1981PubMedGoogle Scholar
  30. 30.
    Blodi F: Ocular melanocytosis and melanoma. Am J Ophthalmol 80:389, 1975PubMedGoogle Scholar
  31. 31.
    Blodi FC: Preretinal glial nodules in persistence and hyperplasia of primary vitreous. Arch Ophthalmol 87:531, 1972PubMedGoogle Scholar
  32. 32.
    Blodi F, Allen L: Stereoscopic Manual of the Ocular Fundus in Local and Systemic Disease. Mosby, St. Louis, 1964Google Scholar
  33. 33.
    Blume R, Wolff S: The Chédiak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore) 51:247, 1972Google Scholar
  34. 34.
    Bock E: Die angeborenen Kolobome des Augapfels. Joseph Safar, Vienna, 1893Google Scholar
  35. 35.
    Boué J, Deluchat C, Albert DM, Lahav M: The eyes of embryos with chromosomal abnormalities. Am J Ophthalmol 78:167, 1974PubMedGoogle Scholar
  36. 36.
    Braekevelt CR, Hollenberg MJ: Comparative electron microscopic study: development of hyaloid and retinal capillaries in albino rats. Am J Ophthalmol 69:1032, 1970PubMedGoogle Scholar
  37. 37.
    Brockhurst RJ: Nanophthalmus with uveal effusion. Arch Ophthalmol 93:1289, 1975Google Scholar
  38. 38.
    Brown GC: Optic nerve hypoplasia and colobomatous defects. J Pediatr Ophthalmol Strabismus 19:90–93, 1982PubMedGoogle Scholar
  39. 39.
    Brown GC, Shields JA, Goldberg RE: Congenital pits of the optic nerve head. II. Clinical studies in humans. Ophthalmology 87:51, 1980PubMedGoogle Scholar
  40. 40.
    Brown GC, Shields JA, Patty BE, Goldberg RE: Congenital pits of the optic nerve head. I. Experimental studies in collie dogs. Arch Ophthalmol 97:1341, 1979PubMedGoogle Scholar
  41. 41.
    Brown G, Tasman W: Congenital Anomalies of the Optic Disk. Grune & Stratton, New York, 1983Google Scholar
  42. 42.
    Bruckner JJ, Michaels RG, Fine SL: Congenital retinal arterial loops and vitreous hemorrhage. Am J Ophthalmol 84:220, 1977Google Scholar
  43. 43.
    Brushfield T: Mongolism. Br J Child Dis 21:241, 1924Google Scholar
  44. 44.
    Bücklers M: Entwicklung des Auges, Vererbung von Augenleiden sowie Missbildungen und angeborene Anomalien des Auges. In Serr H (ed): Th. Axenfeld: Lehrbuch und Atlas der Augenheilkunde, ed. 10, p. 203. Fischer, Jena, 1958Google Scholar
  45. 45.
    Bullock JD: Developmental vitreous cysts. Arch Ophthalmol 91:83, 1974PubMedGoogle Scholar
  46. 46.
    Burck U, Held KR, Hamann K-U, Domarus D von: Aniridia-Wilms’ tumor syndrome with deletion of the short arm of chromosome 11. Ophthalmic Paediatr Genet 1:183, 1982Google Scholar
  47. 47.
    Cagianut B: Ophthalmological findings in chromosomal disease. Ophthalmologica 155: 148–166, 1968PubMedGoogle Scholar
  48. 48.
    Calderone JP, Chess J, Borodic G, Albert DM: Intraocular pathology of trisomy 18 (Edwards’ syndrome), report of a case and review of the literature. Br J Ophthalmol 67:162, 1983PubMedGoogle Scholar
  49. 49.
    Casanovas J, Carbonell M: Malformaciones oculares en la embriopatia thalidomidica. Arch Soc Oftalmol Hisp Am 24:947, 1964Google Scholar
  50. 50.
    Chan CC, Fishman M, Egbert PR: Multiple ocular anomalies associated with maternal LSD ingestion. Arch Ophthalmol 96:282–284, 1978PubMedGoogle Scholar
  51. 51.
    Christianson R: Down syndrome and maternal age. Lancet 2:1198, 1976PubMedGoogle Scholar
  52. 52.
    Coats G: The pathology of coloboma at the nerve entrance. R Lond Ophthalmol Hosp Rep 17:178, 1908Google Scholar
  53. 53.
    Codere F, Brownstein S, Chen MF: Cryptophthalmos syndrome with bilateral renal agenesis. Am J Ophthalmol 91:737, 1981PubMedGoogle Scholar
  54. 54.
    Cogan DG: Coloboma of optic nerve with overlay of peripapillary retina. Br J Ophthalmol 62:347, 1978PubMedGoogle Scholar
  55. 55.
    Cogan DG, Kuwabara T: Pathology of cataracts in mongolism idiocy. Doc Ophthalmol 16:73, 1962PubMedGoogle Scholar
  56. 56.
    Collins E: On anophthalmos. Ophthalmol Hosp Rep 11:429, 1886Google Scholar
  57. 57.
    Corbett JJ, Savino PJ, Schatz NJ, Orr LS: Cavitary developmental defects of the optic disc: visual loss associated with optic pits and colobomas. Arch Neurol 37:210, 1980PubMedGoogle Scholar
  58. 58.
    Cotlier E, Reinglass H, Rosenthal I: The eye in the partial trisomy 21 syndrome. Am J Ophthalmol 84:251–258, 1977PubMedGoogle Scholar
  59. 59.
    Cullen JF: Blindness in mongolism (Down’s syndrome). Br J Ophthalmol 47:331, 1963PubMedGoogle Scholar
  60. 60.
    Curtin BJ: Myopia: a review of its etiology, pathogenesis and treatment. Surv Ophthalmol 15:1–17, 1970Google Scholar
  61. 61.
    Curtin BJ: The pathogenesis of congenital myopia. Arch Ophthalmol 69:166–173, 1963Google Scholar
  62. 62.
    Curtin BJ, Karlin DB: Axial length measurements and fundus changes of the myopic eye. Am J Ophthalmol 71:42, 1971PubMedGoogle Scholar
  63. 63.
    Curtin BJ, Iwamoto T, Renaldo DP: Normal and staphylomatous sclera of high myopia; an electron microscopic study. Arch Ophthalmol 97:912–915, 1979PubMedGoogle Scholar
  64. 64.
    Daicker B: Anatomie und Pathologie der menschlichen retino-ziliaren Fundusperipherie. Karger, Basel, 1972Google Scholar
  65. 65.
    Delleman JW, Winkelman JE: The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome. Klin Monatsbl Augenheilkd 63:528, 1973Google Scholar
  66. 66.
    Deutman AF: The Hereditary Dystrophies of the Posterior Pole of the Eye, pp. 26–28. Van Gorcum, Assen, The Netherlands, 1971Google Scholar
  67. 67.
    Doherty WB: Cases of melanosis oculi with microscopic findings. Am J Ophthalmol 10:1–8, 1927Google Scholar
  68. 68.
    Donaldson DD: The significance of spotting of the iris in mongoloids: Brushfield’s spots. Arch Ophthalmol 65:26, 1961Google Scholar
  69. 69.
    Donaldson DD: Atlas of External Diseases of the Eye, Vol. 1: Congenital Anomalies and Systemic Diseases. Mosby, St. Louis, 1966Google Scholar
  70. 70.
    Donohue WL, Bain HW: Chédiak-Higashi syndrome: a lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: report of a case with necropsy. Pediatrics 20:416–430, 1957PubMedGoogle Scholar
  71. 71.
    Down JLH: Observation of ethnic classification of idiots. Clin Lect Rep Lond Hosp 3:259, 1866Google Scholar
  72. 72.
    Duke-Elder S: System of Ophthalmology, Vol. 3: Normal and Abnormal Development. Part II. Congenital Deformities. Mosby, St. Louis, 1963Google Scholar
  73. 73.
    Dunphy EB: The biology of myopia. N Engl J Med 283:796–800, 1970PubMedGoogle Scholar
  74. 74.
    Edwards JH, Harnden DG, Cameron AH, et al: A new trisomic syndrome. Lancet 1:787, 1960PubMedGoogle Scholar
  75. 75.
    Eissler R, Longenecker CP: The common eye findings in mongolism. Am J Ophthalmol 54:398, 1962PubMedGoogle Scholar
  76. 76.
    Eisum EF: Crater-like holes in the optic disc. Acta Ophthalmol (Copenh) 35:200, 1957Google Scholar
  77. 77.
    Falls HF: Albinism. Trans Am Acad Ophthalmol Otolaryngol 57:324, 1953PubMedGoogle Scholar
  78. 78.
    Falls HF: Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote. Am J Ophthalmol 34:41, 1951PubMedGoogle Scholar
  79. 79.
    Falls HF: The role of the sex chromosome in hereditary ocular pathology. Trans Am Ophthalmol Soc 50:421, 1952PubMedGoogle Scholar
  80. 80.
    Ferry AP: Macular detachment associated with congenital pit of the optic nerve head: pathologic findings in two cases simulating malignant melanoma of the choroid. Arch Ophthalmol 70:346–357, 1963PubMedGoogle Scholar
  81. 81.
    Ferry AP, Marchevsky A, Strauss L: Ocular abnormalities in deletion of the long arm of chromosome II. Ann Ophthalmol 13:1373–1377, 1981PubMedGoogle Scholar
  82. 82.
    Fitzpatrick TB, Zeller R, Kukita A, Kitamura H: Ocular and dermal melanocytosis. Arch Ophthalmol 56:830–832, 1956Google Scholar
  83. 83.
    Font RL, Yanoff M, Zimmerman LE: Intraocular adipose tissue and persistent hyperplastic primary vitreous. Arch Ophthalmol 82:43, 1969PubMedGoogle Scholar
  84. 84.
    Font RL, Zimmerman LE: Intrascleral smooth muscle in coloboma of the optic disc: electron microscopic verification. Am J Ophthalmol 72:452, 1971PubMedGoogle Scholar
  85. 85.
    François J: Heredity in Ophthalmology, Mosby, St. Louis, 1961Google Scholar
  86. 86.
    François J: Prepapillary cyst developed from remnants of the hyaloid artery. Br J Ophthalmol 34:365, 1950PubMedGoogle Scholar
  87. 87.
    François J, Berger R, Saraux H: Chromosomal Aberrations in Ophthalmology. Royal Van Gorcum, Assen, The Netherlands, 1975Google Scholar
  88. 88.
    Fulton AB, Albert DM, Craft JL: Human albinism, light and electron microscopy study. Arch Ophthalmol 96:305, 1978PubMedGoogle Scholar
  89. 89.
    Fulton AB, Craft JL, Howard RO, Albert DM: Human retinal dysplasia. Am J Ophthalmol 85:690–698, 1978PubMedGoogle Scholar
  90. 90.
    Gallie BL, Phillips RA: Multiple manifestations of the retinoblastoma gene. Birth Defects 18:689, 1982PubMedGoogle Scholar
  91. 91.
    Gass JDM: Discussion of Brockhurst RJ: Optic pits and posterior retinal detachment. Trans Am Ophthalmol Soc 73:264–291, 1975Google Scholar
  92. 92.
    Gass JDM: Serous detachment of the macula secondary to congenital pit of the optic nerve head. Am J Ophthalmol 67:821, 1969PubMedGoogle Scholar
  93. 93.
    Gass JDM: Surgical excision of persistent hyperplastic primary vitreous. Arch Ophthalmol 82:163, 1970Google Scholar
  94. 94.
    Gieser DK, Goldberg MF, Apple DJ, et al: Persistent hyperplastic primary vitreous in an adult; case report with fluorescein angiography finds. J Pediatr Ophthalmol Strabismus 15:213, 1978PubMedGoogle Scholar
  95. 95.
    Ginsberg J, Ballard ET, Buchino JJ, Kinkier AK: Further observations of ocular pathology in Down’s syndrome. J Pediatr Ophthalmol Strabismus 17:166–171, 1980PubMedGoogle Scholar
  96. 96.
    Ginsberg J, Ballard ET, Soukup S: Pathologic features of the eye in triploidy. J Pediatr Ophthalmol Strabismus 18:48, 1981PubMedGoogle Scholar
  97. 97.
    Ginsberg J, Bove KE: Ocular pathology of trisomy 13. Ann Ophthalmol 6:113, 1974Google Scholar
  98. 98.
    Ginsberg J, Bove K, Nelson R, Englender GS: Ocular pathology of trisomy 18. Ann Ophthalmol 3:273, 1971PubMedGoogle Scholar
  99. 99.
    Ginsberg J, Dignan P, Soukup S: Ocular abnormality associated with extra small autosome. Am J Ophthalmol 65:740, 1968PubMedGoogle Scholar
  100. 100.
    Ginsberg J, Perrin EV, Sueoka WT: Ocular manifestations of trisomy 18. Am J Ophthalmol 66:59, 1968PubMedGoogle Scholar
  101. 101.
    Ginsberg J, Soukup S, Ballard EF: Pathologic features of the eye in trisomy 9. J Pediatr Ophthalmol Strabismus 19:37–41, 1982PubMedGoogle Scholar
  102. 102.
    Goldberg MF: An introduction to basic genetic principles applied to ophthalmology. Trans Am Acad Ophthalmol Otolaryngol 76:1137, 1972Google Scholar
  103. 103.
    Goldberg MF: Genetic and Metabolic Eye Disease. Little, Brown, Boston, 1974Google Scholar
  104. 104.
    Goldberg MF, McKusick VA: X-linked colobomatous microphthalmos and other congenital anomalies. Am J Ophthalmol 71:1128, 1971PubMedGoogle Scholar
  105. 105.
    Goldberg M, Renie W: Genetic and Metabolic Eye Disease, ed. 2. Little, Brown, Boston, 1984Google Scholar
  106. 106.
    Goldhammer Y, Smith JL: Optic nerve anomalies in basal encephalocele. Arch Ophthalmol 93:115–118, 1975PubMedGoogle Scholar
  107. 107.
    Goodman RA: Genetic Disorders of Man. Little, Brown, Boston, 1970Google Scholar
  108. 108.
    Gordon R, Chatfield RK: Pits in the optic disc associated with macular degeneration. Br J Ophthalmol 53:481–489, 1969PubMedGoogle Scholar
  109. 109.
    Grant WM, Walton DS: Progressive changes in the angle in congenital aniridia, with development of glaucoma. Trans Am Ophthalmol Soc 72:207, 1974PubMedGoogle Scholar
  110. 110.
    Grear JN: Pits, or crater-like holes, in the optic disc. Arch Ophthalmol 28:467, 1942Google Scholar
  111. 111.
    Gregor Z: The perifoveal vasculature in albinism. Br J Ophthalmol 62:554–557, 1978PubMedGoogle Scholar
  112. 112.
    Gropp D, Citoler P: Grundlagen der Chromosomenforschung beim Menschen. Buch Augenarzt 50:1, 1968PubMedGoogle Scholar
  113. 113.
    Gupta SP, Saxena RC: Cryptophthalmos. Br J Ophthalmol 46:629, 1962Google Scholar
  114. 114.
    Gutmann ED, Goldberg MF: Persistent pupillary membrane and other ocular anomalies. Arch Ophthalmol 94:156, 1976PubMedGoogle Scholar
  115. 115.
    Haberland C, Peron M: Primary bilateral anophthalmia. J Neuropathol Exp Neurol 28:337, 1969PubMedGoogle Scholar
  116. 116.
    Haicken BN, Miller DR: Simultaneous occurrence of congenital aniridia, hamartoma and Wilms’ tumor. J Pediatr 78:497, 1971PubMedGoogle Scholar
  117. 117.
    Hamada S, Ellsworth RM: Congenital retinal detachment and the optic disc anomaly. Am J Ophthalmol 71:460, 1971PubMedGoogle Scholar
  118. 118.
    Hamming NA, Apple DJ, Gieser DK, Vygantas C: Ultrastructure of the hyaloid vasculature in primates. Invest Ophthalmol 16:5, 1977Google Scholar
  119. 119.
    Harley RD: Pediatric Ophthalmology, ed. 2, Vol. I. Saunders, Philadelphia, 1975Google Scholar
  120. 120.
    Harley RD: Pediatric Ophthalmology, ed. 2, Vol. II. Saunders, Philadelphia, 1983Google Scholar
  121. 121.
    Hayreh SS, Cullen JF: Atypical minimal peripapillary choroidal colobomata. Br J Ophthalmol 56:86, 1972PubMedGoogle Scholar
  122. 122.
    Heimann K: Mikrophthalmussyndrome und 13 bis 15 Trisomie. Ber 65. Zus Dtsch Ophthal Ges, Heidelberg: Bergmann 1963Google Scholar
  123. 123.
    Heimann K: Histopathologische Augenveränderungen beim D1-(13–15) Trisomie-Syndrom: Bericht über 5 weitere Fälle. Klin Monatsbl Augenheilkd 50:66–81, 1968Google Scholar
  124. 124.
    Heimick E, Pringle R: Oculocutaneous melanosis of nevus of Ota. Arch Ophthalmol 56:833, 1956Google Scholar
  125. 125.
    Henkind P: Crater-like holes in the optic nerve. Am J Ophthalmol 55:613, 1963PubMedGoogle Scholar
  126. 126.
    Henkind P, Siegel LM, Carr RE: Mesodermal dysgenesis of the anterior segment: Rieger’s anomaly. Arch Ophthalmol 73:810, 1965PubMedGoogle Scholar
  127. 127.
    Hess C: Ein Beitrag zur Kenntnis der nicht nach unten gerichteten angeborenen Iriscolobome. Klin Monatsbl Augenheilkd 30:106, 1892Google Scholar
  128. 128.
    Hippel E von: Über Anophthalmus congenitus. Graefes Arch Exp Ophthalmol 47:227, 1899Google Scholar
  129. 129.
    Hippel E von: Embryologische Untersuchungen über die Entstehungsweise der typischen angeborenen Spaltbildung (Colobome) des Augapfels. Graefes Arch Exp Ophthalmol 55:507, 1903Google Scholar
  130. 130.
    Hippel E von: Missbildungen. In Henke-Lubarsch (ed): Handbuch der speziellen pathologischen Anatomie und Histologie, Vol. 11. Springer, Berlin, 1931Google Scholar
  131. 131.
    Hird B: An exhaustive treatise on the various colobomas. Ophthalmol Rev 31:162, 1912Google Scholar
  132. 132.
    Hoepner J, Yanoff M: Ocular anomalies in trisomy 13–15: an analyses of 13 eyes with two new findings. Am J Ophthalmol 74:729, 1972PubMedGoogle Scholar
  133. 133.
    Hotchkiss ML, Fine SL: Pathologic myopia and choroidal neovascularization. Am J Ophthalmol 91:117, 1981Google Scholar
  134. 134.
    Howard RO: Ocular abnormalities in the cri du chat syndrome. Am J Ophthalmol 73:949, 1972PubMedGoogle Scholar
  135. 135.
    Howard RO, Boue J, Deluchat C, et al: The eyes of embryos with chromosomal abnormalities. Am J Ophthalmol 78:167, 1974PubMedGoogle Scholar
  136. 136.
    Howard RO, Finermann RM, Anderson B, et al: Unilateral cryptophthalmia. Am J Ophthalmol 87:556–560, 1979PubMedGoogle Scholar
  137. 137.
    Hoyt CS, Billison F, Ouvner R, Wise G: Ocular features of Aicardi’s syndrome. Arch Ophthalmol 96:291, 1978PubMedGoogle Scholar
  138. 138.
    Huggert A: The trisomy 18 syndrome: a report of 3 cases in the same family. Acta Ophthalmol (Copenh) 44:186, 1966Google Scholar
  139. 139.
    Jack MK: Central serous retinopathy with optic pit treated with photocoagulation. Am J Ophthalmol 67:519, 1969PubMedGoogle Scholar
  140. 140.
    Jaeger EA: Ocular findings in Down’s syndrome. Trans Am Ophthalmol Soc 78:808, 1980PubMedGoogle Scholar
  141. 141.
    Jensen OA: Microphthalmia with associated pseudogliomatosis of the retina and pseudogliomatous orbital cyst. Acta Ophthalmol (Copenh) 43:240, 1965Google Scholar
  142. 142.
    Johnson AW, Smith JL, Hart LM: Macular changes with pit of optic disc: fluorescein photography. Am J Ophthalmol 55:1070–1072, 1963Google Scholar
  143. 143.
    Johnson BL, Hiles DA: Congenital coloboma of central cornea with incarcerated intraocular structures. J Pediatr Ophthalmol 7:87, 1970Google Scholar
  144. 144.
    Johnson DL, Jacobson LW, Toyama R, Monahan RH: Histopathology of eyes in Chédiak-Higashi syndrome. Arch Ophthalmol 75:84, 1966PubMedGoogle Scholar
  145. 145.
    Joseph M, Ivry M, Oliver M: Persistent hyperplastic primary vitreous at the optic nerve head. Am J Ophthalmol 73:580, 1973Google Scholar
  146. 146.
    Keith CG: The ocular findings in the trisomy syndrome. Proc R Soc Med 61:251, 1968PubMedGoogle Scholar
  147. 147.
    Kertesz ED, Falls HF: Genetic applications to pediatric ophthalmology. In Liebman SD, Gellis SS (eds): The Pediatrician’s Ophthalmology, p. 301. Mosby, St. Louis, 1966Google Scholar
  148. 148.
    Klein BA: The pathogenesis of some atypical colobomas of the choroid. Am J Ophthalmol 48:597, 1959Google Scholar
  149. 149.
    Klein RM, Curtin BJ: Lacquer crack lesions in pathologic myopia. Am J Ophthalmol 79:386, 1975PubMedGoogle Scholar
  150. 150.
    Kottow M: Photocoagulation of optic disc pits. Ophthalmologica 184:26, 1982PubMedGoogle Scholar
  151. 151.
    Kranenburg EW: Crater-like holes in the optic disc and central serous retinopathy. Arch Ophthalmol 64:912, 1960PubMedGoogle Scholar
  152. 152.
    Kugelman TP, Van Scot EJ: Tyrosinase activity in melanocytes of human albinos. J Invest Dermatol 37:73, 1961PubMedGoogle Scholar
  153. 153.
    Langman J: Medical Embryology, Human Development—Normal and Abnormal, ed. 2. Williams & Wilkins, Baltimore, 1969Google Scholar
  154. 154.
    Lowe MRS: Synophthalmos: report of a case. Surv Ophthalmol 12:145, 1967PubMedGoogle Scholar
  155. 155.
    Lowe RF: The arcuate lens opacities of mongolism and cataracts of similar appearance. Br J Ophthalmol 34:484, 1950PubMedGoogle Scholar
  156. 156.
    Lowe RF: The eye in mongolism. Br J Ophthalmol 33:131–174, 1949PubMedGoogle Scholar
  157. 157.
    Mann IC: Coloboma iridis and its embryology. Trans Ophthalmol Soc UK 44:161, 1924Google Scholar
  158. 158.
    Mann IC: Congenital retinal fold. Br J Ophthalmol 19:641, 1935PubMedGoogle Scholar
  159. 159.
    Mann IC: Developmental Abnormalities of the Eye, ed. 2. Lippincott, Philadelphia, 1957Google Scholar
  160. 160.
    Manschot WA: Eye findings in hydranencephaly. Ophthalmologica 162:151, 1971PubMedGoogle Scholar
  161. 161.
    Manschot WA: Persistent hyperplastic primary vitreous. Arch Ophthalmol 59:188, 1958Google Scholar
  162. 162.
    Manthey R, Apple DJ, Kivlin JD: Iris hypoplasia in incontinentia pigmenti. J Pediatr Ophthalmol Strabismus 19:279–280, 1982PubMedGoogle Scholar
  163. 163.
    McKusick VA: Heritable Disorders of Connective Tissue. Mosby, St. Louis, 1966Google Scholar
  164. 164.
    Merin S, Crawford JS, Cardarelli J: Hyperplastic persistent pupillary membrane. Am J Ophthalmol 72:717, 1971PubMedGoogle Scholar
  165. 164a.
    Mets MB, Maumenee IH: The eye and the chromosome. Surv Ophthalmol 28:20, 1983PubMedGoogle Scholar
  166. 165.
    Meyer-Schwickerath G, Griiterich E, Weyers H: Mikrophthalmussyndrome. Klin Monatsbl Augenheilkd 131:18, 1957Google Scholar
  167. 166.
    Meyner E: Atlas der Spaltlampenphotographie. Ferdinand Enke, Stuttgart, 1976Google Scholar
  168. 167.
    Miller DM, Froumeni JF, Manning MD: Association of Wilms’ tumor with aniridia, hemihy-pertrophy, and other congenital malformations. N Engl J Med 270:922–927, 1964PubMedGoogle Scholar
  169. 168.
    Miller SA, Bresnick G: Familial bilateral macular colobomata. Br J Ophthalmol 62:261–264, 1978PubMedGoogle Scholar
  170. 169.
    Milunsky A: The Prenatal Diagnosis of Hereditary Disorders. Thomas, Springfield, IL, 1973Google Scholar
  171. 170.
    Mottet NK, Jensen H: The anomalous embryonic development associated with trisomy 13–15. Am J Clin Pathol 43:334, 1965PubMedGoogle Scholar
  172. 171.
    Mullaney J: Complex sporadic colobomata. Br J Ophthalmol 62:384, 1978PubMedGoogle Scholar
  173. 172.
    Mullaney J: Ocular pathology in trisomy 18 (Edwards’ syndrome). Am J Ophthalmol 76:246, 1973PubMedGoogle Scholar
  174. 173.
    Nankin S, Scott W: Persistent hyperplastic primary vitreous. Arch Ophthalmol 95:240, 1977PubMedGoogle Scholar
  175. 174.
    Naumann GOH, Badtke G: Über seltene Missbildungen des Ziliarmuskels in Kombination mit fraglichem Kolobom und anderen Anomalien. Klin Monatsbl Augenheilkd 144:872–887, 1964PubMedGoogle Scholar
  176. 175.
    Naumann GOH, Lerche W, Schroeder W: Foveola-Aplasie bei Tyrosinase-positivem oculocutanem Albinismus. Graefes Arch Klin Exp Ophthalmol 200:39, 1976Google Scholar
  177. 176.
    New Orleans Academy of Ophthalmology: Symposium on Surgical and Medical Management of Congenital Anomalies of the Eye. Mosby, St. Louis, 1968Google Scholar
  178. 177.
    O’Donnell FE, Hambrick GW, Green WR, et al: X-linked ocular albinism. Arch Ophthalmol 94:1883, 1976PubMedGoogle Scholar
  179. 178.
    O’Grady RB, Rothstein TB, Romano PE: D-group deletion syndromes and retinoblastoma. Am J Ophthalmol 77:40, 1974PubMedGoogle Scholar
  180. 179.
    Ophthalmologic Staff of the Hospital for Sick Children, Toronto: The Eye in Childhood. Year Book, Chicago, 1967Google Scholar
  181. 180.
    Pagon RA: Ocular coloboma. Surv Ophthalmol 25:223, 1981PubMedGoogle Scholar
  182. 181.
    Patau K, Smith D, Therman E, et al: Multiple congenital anomaly caused by an extra autosome. Lancet, 1:790, 1960PubMedGoogle Scholar
  183. 182.
    Penrose LS, Smith GF: Down’s Anomaly. Churchill, London, 1966Google Scholar
  184. 183.
    Petersen HP: Persistence of the Bergmeister papilla with glial overgrowth. Acta Ophthalmol (Copenh) 46:430, 1968Google Scholar
  185. 184.
    Peyman GA, Sanders DR, Nagpal KC: Management of persistent hyperplastic primary vitreous by pars plana vitrectomy. Br J Ophthalmol 11:756, 1976Google Scholar
  186. 185.
    Pfaffenbach DD, Walsh FB: Central pit of the optic disk. Am J Ophthalmol 73:102, 1972PubMedGoogle Scholar
  187. 186.
    Pfeiffer RA, Heimann K, Heiming E, et al: Kolobom und Analatresie: Phänotyp einer Chromosomenaberration? Klin Monatsbl Augenheilkd 158:357, 1971Google Scholar
  188. 187.
    Pilling GP: Wilms’ tumor in seven children with congenital aniridia. J Pediatr Surg 10:87, 1975PubMedGoogle Scholar
  189. 188.
    Pruett RC: The pleomorphism and complications of posterior hyperplastic primary vitreous. Am J Ophthalmol 80:625, 1975PubMedGoogle Scholar
  190. 189.
    Pruett RC, Schepens CL: Posterior hyperplastic primary vitreous. Am J Ophthalmol 69:534, 1970PubMedGoogle Scholar
  191. 190.
    Rabb MF, Garoon I, LaFranco FP: Myopic macular degeneration. Int Ophthalmol Clin 21:No. 3, 1981Google Scholar
  192. 191.
    Radius RL, Maumenee AE, Green WR: Pitlike changes of the optic nerve head in open-angle glaucoma. Br J Ophthalmol 62:389, 1978PubMedGoogle Scholar
  193. 192.
    Raviola E, Wiesel TN: Effect of dark-rearing on experimental myopia in monkeys. Invest Ophthalmol 17:485, 1978Google Scholar
  194. 193.
    Rawles ME: Origin of the mammalian pigment cell and its role in the pigmentation of hair. In Gordon M (ed): Pigment Cell Growth; Proceedings of the Conference on the Biology of Normal and Atypical Pigment Cell Growth, ed. 3, pp. 1–15. Academic Press, New York, 1953Google Scholar
  195. 194.
    Reese AB: Persistent hyperplastic primary vitreous. Am J Ophthalmol 40:317, 1955PubMedGoogle Scholar
  196. 195.
    Reese AB, Blodi FC: Retinal dysplasia. Am J Ophthalmol 33:23, 1950PubMedGoogle Scholar
  197. 196.
    Reese AB, Straatsma BR: Retinal dysplasia. Arch Ophthalmol 45:199, 1958Google Scholar
  198. 197.
    Rieger H: Beiträge zur Kenntnis seltener Missbildungen der Iris. I. Membrana iridopupillaris persistens. Graefes Arch Exp Ophthalmol 131:523, 1934Google Scholar
  199. 198.
    Rieger H: Beiträge zur Kenntnis seltener Missbildungen der Iris. II. Ueber Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Graefes Arch Exp Ophthalmol 133:602, 1935Google Scholar
  200. 199.
    Rieger H: Erbpathologie des Auges. In Velhagen K (ed): Der Augenarzt, Leipzig, pp. 125–241. Thieme, Vol. I, 1958Google Scholar
  201. 200.
    Robb RM, Marchevsky A: Pathology of the lens in Down’s syndrome. Arch Ophthalmol 96:1039–1042, 1978PubMedGoogle Scholar
  202. 201.
    Rochels R, Nover A, Schmid F: Ophthalmologische Symptome beim Mongolismus-Syndrom. Graefes Arch Klin Exp Ophthalmol 205:9–22, 1977Google Scholar
  203. 202.
    Rodrigues MM, Valdes-Dapena M, Kistenmacher M: Ocular pathology in a case of 13 trisomy. J Pediatr Ophthalmol 10:54, 1973Google Scholar
  204. 203.
    Rones B: The genesis of atypical colobomas. Am J Ophthalmol 17:883, 1934Google Scholar
  205. 204.
    Ruprecht KW, Majewski F: Familiäre Arhinie, Peters’sche Anomalie und Kiefermissbildungen: Ein neues Fehlbildungssyndrom. Klin Monatsbl Augenheilkd 172:708, 1978PubMedGoogle Scholar
  206. 204a.
    Ruprecht KW, Naumann GOH: Aniridie ünd Wilms Tumor. Ber Dtsch Ophth Ges 75:588, 1977Google Scholar
  207. 205.
    Sassani JW, Yanoff M: Anophthalmus in an infant with multiple congenital anomalies. Am J Ophthalmol 83:43, 1977PubMedGoogle Scholar
  208. 206.
    Savell J, Cook JR: Optic nerve colobomas of autosomal dominant heredity. Arch Ophthalmol 94:395, 1976PubMedGoogle Scholar
  209. 207.
    Savir H, Rosen ES: Congenital pit of the optic disc with acquired retinal cyst. Ann Ophthalmol 4:756, 1972PubMedGoogle Scholar
  210. 208.
    Schade H: Korrelation zwischen Chromosomenaberrationen und klinischem Status. Genetik 50:26, 1968Google Scholar
  211. 209.
    Schwartz DE: Noonan’s syndrome associated with ocular abnormalities. Am J Ophthalmol 73:955, 1972PubMedGoogle Scholar
  212. 210.
    Seefelder R: Die Missbildungen des menschlichen Auges, In Schieck-Brückner (ed): Kurzes Handbuch der Ophthalmologie, p. I, 519. Springer, Berlin, 1930Google Scholar
  213. 211.
    Seefelder R: Ein pathologisch—anatomischer Beitrag zur Frage der Kolobome und umschriebenen Grubenbildungen am Sehnerveneintritt. Arch Ophthalmol 90:129, 1915Google Scholar
  214. 212.
    Skeller E, Oster J: Eye symptoms in mongolism. Acta Ophthalmol (Copenh) 29:149, 1951Google Scholar
  215. 213.
    Slusher MM, Laibson PR, Mulberger RD: Acute keratoconus in Down’s syndrome. Am J Ophthalmol 66:1137, 1968PubMedGoogle Scholar
  216. 214.
    Smith B, Guberina C: Coloboma in progressive hemifacial atrophy. Am J Ophthalmol 84:85–89, 1977PubMedGoogle Scholar
  217. 215.
    Smith RE, Maumenee AE: Persistent hyperplastic primary vitreous: results of surgery. Trans Am Acad Ophthalmol Otolaryngol 78:911, 1974Google Scholar
  218. 216.
    Solomon G, Zellweger H, Jahnke RG, Opitz E: Four common eye signs in mongolism. Am J Dis Child 110:46, 1965Google Scholar
  219. 217.
    Spaulding AG: Persistent hyperplastic primary vitreous: a finding in a 71-year-old man. Surv Ophthalmol 12:448, 1967PubMedGoogle Scholar
  220. 218.
    Spaulding AG, Naumann GOH: Persistent hyperplastic primary vitreous in an adult. Arch Ophthalmol 77:666, 1967PubMedGoogle Scholar
  221. 219.
    Spencer WH, Hogan MJ: Ocular manifestations of Chédiak-Higashi syndrome: report of a case with histopathologic examination of ocular tissue. Am J Ophthalmol 50:1197, 1960Google Scholar
  222. 220.
    Spivey BE: A review of ocular abnormalities associated with the X-chromosome. Surv Ophthalmol 10:223, 1965PubMedGoogle Scholar
  223. 221.
    Stansbury FC: Pathogenesis of myopia. Arch Ophthalmol 39:273, 1948Google Scholar
  224. 222.
    Stark WJ, Lindsey PS, Fagadau WR, Michels RD: Persistent hyperplastic primary vitreous; surgical treatment. Ophthalmology 90:452, 1983PubMedGoogle Scholar
  225. 223.
    Steinkuller PG: The morning glory disk anomaly: case report and literature review. J Pediatr Ophthalmol Strabismus 17:81, 1980PubMedGoogle Scholar
  226. 224.
    Stocker FW: Pathologic anatomy of the myopic eye with regard to newer theories of etiology and pathogenesis of myopia. Arch Ophthalmol 30:476, 1943Google Scholar
  227. 225.
    Sugar HS: Congenital pits on the optic disc with acquired macular pathology. Am J Ophthalmol 53:307, 1962PubMedGoogle Scholar
  228. 226.
    Sugar HS: Congenital pits in the optic disc with acquired macular pathology. Am J Ophthalmol 57:833, 1964PubMedGoogle Scholar
  229. 227.
    Sugar HS: Congenital pits in the optic disc. Am J Ophthalmol 63:298, 1967PubMedGoogle Scholar
  230. 228.
    Symposium on Surgical and Medical Management of Congenital Anomalies of the Eye. Transactions of the New Orleans Academy of Ophthalmology. Mosby, St. Louis, 1968Google Scholar
  231. 229.
    Szily A, von: Die Ontogenese der Iriskolobome. Klin Monatsbl Augenheilkd 45:422, 1907Google Scholar
  232. 230.
    Szily A von: Ontogenese der idiotypischen Spaltbildungen des Auges, Mikrophthalmus und Orbitalcysten. Z Ges Anat 74:1, 1924Google Scholar
  233. 231.
    Tarkkanen A, Merenmies L, Rapola J: Ocular pathology in triploidy (69/XXY). Ophthalmologica 163:90, 1971PubMedGoogle Scholar
  234. 232.
    Tasman W: Retinal Diseases in Children. Harper & Row, New York, 1971Google Scholar
  235. 233.
    Taylor AL: Autosomal trisomy syndromes: a detailed study of 27 cases of Edward’s syndrome and 27 cases of Patau’s syndrome. J Med Genet 5:227, 1968PubMedGoogle Scholar
  236. 234.
    Theodossiadis G: Evolution of congenital pit of the optic disc with macular detachment in photocoagulated and nonphotocoagulated eyes. Am J Ophthalmol 84:620, 1977PubMedGoogle Scholar
  237. 235.
    Timm G: Über Anophthalmie und Mikrophthalmie bei Anenzephalie. Klin Monatsbl Augenheilkd 137:430, 1960Google Scholar
  238. 236.
    Valenzuela R, Morningstar WA: The ocular pigmentary disturbance of human Chédiak-Higashi syndrome. Am J Clin Pathol 75:591, 1981PubMedGoogle Scholar
  239. 237.
    Van Selm J: Surgery for retinal dysplasia and hyperplasia of the persistent primary vitreous. Trans Ophthalmol Soc UK 89:545, 1970PubMedGoogle Scholar
  240. 238.
    Vare AM: Cyclopia. Am J Ophthalmol 75:880, 1973PubMedGoogle Scholar
  241. 239.
    Vogel F: Lehrbuch der Allgemeinen Humangenetik. Springer, Berlin, 1961Google Scholar
  242. 240.
    Vogel W: Macular changes associated with pits in the optic disc. Klin Monatsbl Augenheilkd 164:90, 1974PubMedGoogle Scholar
  243. 241.
    Vogel M, Wessing A: Maculaveränderungen bei Grubenpapille. Klin Monatsbl Augenheilkd 164:90, 1974PubMedGoogle Scholar
  244. 242.
    Völcker HE, Lang GK, Naumann GOH: Zur Chirurgie des hinteren Polstars bei persistierendem hyperplastischen primären Glaskörper (PHPV). Klin Monatsbl Augenheilkd 183:79–85, 1983PubMedGoogle Scholar
  245. 243.
    Waardenburg PJ, Franceschetti A, Klein D: Genetics and Ophthalmology, Vol. I. Blackwell, Oxford, 1961Google Scholar
  246. 244.
    Waardenburg PJ, Franceschetti A, Klein D: Genetics and Ophthalmology, Vol. 2. Thomas, Springfield, IL, 1963Google Scholar
  247. 245.
    Walsh SZ: Keratoconus and blindness in 469 institutionalized subjects with Down syndrome and other causes of mental retardation. J Ment Defic Res 25:243, 1981PubMedGoogle Scholar
  248. 246.
    Warburg M: Diagnosis of Metabolic Eye Diseases. Munksgaard, Copenhagen, 1972Google Scholar
  249. 247.
    Warburg M: Diagnostic precision in microphthalmos and coloboma of heterogeneous origin. Ophthalmic Paediatr Genet 1:37, 1981Google Scholar
  250. 248.
    Warburg M: Nome’s disease and falciform detachment of the retina. In Goldberg MR (ed): Genetic and Metabolic Eye Disease, pp. 441–446. Little, Brown, Boston, 1974Google Scholar
  251. 249.
    Waring GO III, Roth AM, Rodrigues MM: Clinicopathologic correlation of microphthalmos with cyst. Am J Ophthalmol 82:714, 1976PubMedGoogle Scholar
  252. 250.
    Warkany J: Congenital Malformations. Year Book, Chicago, 1971Google Scholar
  253. 251.
    Warkany J, Passarge E, Smith LB: Congenital malformations in autosomal trisomy syndromes. Am J Dis Child 112:502, 1966PubMedGoogle Scholar
  254. 252.
    Weigelin E, Apollonio A, Marx W, Pilke A: Zum Verlauf der hochgradigen Myopie: Statistische Untersuchungen. Adv Ophthalmol 16:1, 1965Google Scholar
  255. 253.
    Williams RDB: Brushfield spots and Wölfflin nodules in the iris; an appraisal in handicapped children. Dev Med Child Neurol 23:646, 1981Google Scholar
  256. 254.
    Willis R, Zimmerman LE, O’Grady R, et al: Heterotopic adipose tissue and smooth muscle in the optic disc: association with isolated colobomas. Arch Ophthalmol 88:139, 1972PubMedGoogle Scholar
  257. 255.
    Wilson WA, Alfi OS, Donneil GN: Ocular findings in cytogenetic syndromes. Ophthalmology 86:1184, 1978Google Scholar
  258. 256.
    Witkop CJ Jr: Albinism. Adv Hum Genet 2:61–142, 1971Google Scholar
  259. 257.
    Wolter JR, Flaherty NW: Persistent hyperplastic vitreous. Am J Ophthalmol 47:491, 1959PubMedGoogle Scholar
  260. 258.
    Wolter JR, Knoblich RR, Ravin JG: Synophthalmus and anencephaly. J Pediatr Ophthalmol 5:217, 1968Google Scholar
  261. 259.
    Wolter JR, Schmidt DW: Cyclopia with cystic coloboma of the optic nerve. J Pediatr Ophthalmol 3:18, 1966Google Scholar
  262. 260.
    Wong L, O’Donnell FE Jr, Green WR: Giant pigment granules in the retinal pigment epithelium of a fetus with X-linked ocular albinism. Ophthalmic Paediatr Genet 2:47, 1983Google Scholar
  263. 261.
    Yanko L, Zaifrani S: Synophthalmus in a full-term newborn child: an anatomic and pathologic study. J Pediatr Ophthalmol 10:65, 1973Google Scholar
  264. 262.
    Yanoff M, Font RL: Intraocular adipose tissue in a microphthalmic eye of an otherwise healthy girl. Arch Ophthalmol 82:43, 1969PubMedGoogle Scholar
  265. 263.
    Yanoff M, Font RL, Zimmerman LE: Intraocular cartilage in a microphthalmic eye of an otherwise healthy girl. Arch Ophthalmol 81:238, 1969PubMedGoogle Scholar
  266. 264.
    Yanoff M, Frayer WC, Scheie HG: Ocular findings in 13–15 trisomy. Arch Ophthalmol 70:132, 1963Google Scholar
  267. 265.
    Yanoff M, Rorke LB: Ocular and central nervous system findings in tetraploid-diploid mosaicism. Am J Ophthalmol 75:1036, 1973PubMedGoogle Scholar
  268. 266.
    Yanoff M, Rorke LB, Niederer BS: Ocular and cerebral abnormalities in 18 chromosome deletion defect. Am J Ophthalmol 70:391, 1970PubMedGoogle Scholar
  269. 267.
    Zellweger H: Cytogenetic aspects of ophthalmology. Surv Ophthalmol 15:77–93, 1970Google Scholar
  270. 268.
    Zellweger H, Simpson J: Mongolism (Down’s syndrome). In Conn HF, Conn RB, Jr. (eds): Current Diagnosis, Philadelphia, WB Saunders, 1974Google Scholar
  271. 269.
    Zimmerman LE, Font RL: Congenital malformations of the eye; some recent advances in knowledge of the pathogenesis and histopathological characteristics. JAMA 196:684, 1966Google Scholar
  272. 270.
    Zimmerman LE, Naumann GOH: Pathology of retinoschisis. In McPherson A (ed): New and Controversial Aspects of Retinal Detachment, p. 400. Hoeber, New York, 1968Google Scholar

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© Springer-Verlag New York, Inc. 1986

Authors and Affiliations

  • D. J. Apple
  • G. O. H. Naumann

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