Abstract
Congenital aniridia manifests in different forms: it can be transmitted in an autosomal dominant way, as sporadic aniridia, and as part of several syndromes including WAGR- and WAGRO-syndrome and other syndromes with intellectual impairment. Furthermore, recent research shows that aniridia associated with alterations in the PAX6 gene often shows further systemic implications (endocrine, metabolic and neurological pathologies). Therefore, PAX6-related aniridia is more and more thought of and described as “Aniridia Syndrome” or “PAX6-Syndrome”.
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References
Bamiou DE, Campbell NG, Musiek FE, Taylor R, Chong WK, Moore A, van Heyningen V, Free S, Sisodiya S, Luxon LM (2007) Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. Int J Audiol 46(4):196–202
Bamiou DE, Free SL, Sisodiya SM, Chong WK, Musiek F, Williamson KA, van Heyningen V, Moore AT, Gadian D, Luxon LM (2007) Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations. Arch Pediatr Adolesc Med 161(5):463–469
Hingorani M, Hanson I, van Heyningen V (2012) Aniridia. Eur J Hum Genet 20(10):1011–1017
Peter NM, Leyland M, Mudhar HS, Lowndes J, Owen KR, Stewart H (2013) PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia? Clin Exp Ophthalmol 41(9):835–841
Beby F, Dieterich K, Calvas P (2011) A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment. Eye (Lond) 25(5):657–658
Netland PA, Scott ML, Boyle JW, Lauderdale JD (2011) Ocular and systemic findings in a survey of aniridia subjects. J AAPOS 15(6):562–566
Grønskov K, Olsen JH, Sand A, Pedersen W, Carlsen N, BakJylling AM, Lyngbye T, Brøndum-Nielsen K, Rosenberg T (2001) Population-based risk estimates of Wilmstumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet 109(1):11–18
Lee HJ, Colby KA (2013) A review of the clinical and genetic aspects of aniridia. Semin Ophthalmol 28(5–6):306–312
vanHeyningen V, Boyd PA, Seawright A, Fletcher JM, Fantes JA, Buckton KE, Spowart G, Porteous DJ, Hill RE, Newton MS (1985) Molecular analysis of chromosome 11 deletions in aniridia-Wilmstumor syndrome. Proc Natl Acad Sci US A82(24):8592–8596
vanHeyningen V, Hoovers JM, de Kraker J, Crolla JA (2007) Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. J Med Genet 44(12):787–790
Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV (2010) Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis 16:1705–1711
Henderson RA, Williamson K, Cumming S, Clarke MP, Lynch SA, Hanson IM, FitzPatrick DR, Sisodiya S, van Heyningen V (2007) Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Eur J Hum Genet 15(8):898–901
Khan AO, Aldahmesh MA, Mohamed JY, Hijazi H, Alkuraya FS (2014) Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype. Ophthalmic Genet 35(3):187–189
Law SK, Sami M, Piri N, Coleman AL, Caprioli J (2011) Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation. Mol Vis 17:1231–1238
Lim HT, Seo EJ, Kim GH, Ahn H, Lee HJ, Shin KH, Lee JK, Yoo HW (2012) Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia. Ophthalmology 119(6):1258–1264
Gregory-Evans K, Cheong-Leen R, George SM, Xie J, Moosajee M, Colapinto P, Gregory-Evans CY (2011) Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. Can J Ophthalmol 46(4):337–344
Le Q, Deng SX, Xu J (2013) In vivo confocal microscopy of congenital aniridia-associated keratopathy. Eye (Lond) 27(6):763–766
Almousa R, Lake DB (2014) Intraocular pressure control with Ahmed glaucoma drainage device in patients with cicatricial ocular surface disease-associated or aniridia-related glaucoma. Int Ophthalmol 34(4):753–760
Gramer E, Reiter C, Gramer G (2012) Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study. Eur J Ophthalmol 22(1):104–110
Kothari M, Rao K, Moolani S (2014) Recurrent progressive anterior segment fibrosis syndrome following a descemet-stripping endothelial keratoplasty in an infant with congenital aniridia. Indian J Ophthalmol 62(2):246–248
Gregory-Evans CY, Wang X, Wasan KM, Zhao J, Metcalfe AL, Gregory-Evans K (2014) Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects. J Clin Invest 124(1):111–116
Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K (2004) Ocular coloboma: a reassessment in the age of molecular neuroscience. J Med Genet 41(12):881–891
Crolla JA, van Heyningen V (2002) Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet 71(5):1138–1149
Malandrini A, Mari F, Palmeri S, Gambelli S, Berti G, Bruttini M, Bardelli AM, Williamson K, van Heyningen V, Renieri A (2001) PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. Clin Genet 60(2):151–154
Simioni M, Vieira TP, Sgardioli IC, Freitas EL, Rosenberg C, Maurer-Morelli CV, Lopes-Cendes I, Fett-Conte AC, Gil-da-Silva-Lopes VL (2012) Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia. Am J Med Genet A 158A(11):2905–2910
Shaham O, Menuchin Y, Farhy C, Ashery-Padan R (2012) Pax6: a multi-level regulator of ocular development. Prog Retin Eye Res 31(5):351–376
Shimo N, Yasuda T, Kitamura T, Matsushita K, Osawa S, Yamamoto Y, Kozawa J, Otsuki M, Funahashi T, Imagawa A, Kaneto H, Nishida K, Shimomura I (2014) Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired. Intern Med 53(1):39–42
Addenda
ADD1 – Käsmann-Kellner B, Seitz B (2014) Das Aniridie-Syndrom. Klinische Befunde, problematische Verläufe und Vorschlag zur Betreuungsoptimierung (“Aniridie-Lotse”). Ophthalmologe. doi:10.1007/s00347-014-3058-4, in press
ADD2- Käsmann-Kellner B, Seitz B (2014) Kongenitale Aniridie oder PAX6-Syndrom? Ophthalmologe. doi:10.1007/s00347-014-3058-4, in press
ADD3- Seitz B,Käsmann-Kellner B, Viestenz A (2014) Stadiengerechte Therapie der kongenitalen Aniridie. Ophthalmologe. doi:10.1007/s00347-014-3058-4, in press
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Käsmann-Kellner, B., Viestenz, A., Seitz, B. (2015). Aniridia Guides and Aniridia-Syndrome (PAX6-Syndrome): Do’s and Dont’s in Clinical Care. In: Parekh, M., Poli, B., Ferrari, S., Teofili, C., Ponzin, D. (eds) Aniridia. Springer, Cham. https://doi.org/10.1007/978-3-319-19779-1_14
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DOI: https://doi.org/10.1007/978-3-319-19779-1_14
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