| H01114 | |
| H number | H01114 |
| Name | Ocular coloboma |
| Description | Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal dominant disorder, although autosomal recessive inheritance also occurs. Paired box gene 6 (PAX6), a member of the paired box family of transcription factors, has been identified as a key regulator of eye development. Currently around 500 mutations of PAX6 have been reported. And most PAX6 nonsense mutations lead to aniridia, while missense mutations are related to foveal hypoplasia, congenital cataracts, or anterior segment anomalies. Recently, it has been reported that mutation of SALL2 causes recessive ocular coloboma. |
| Category | Congenital malformation |
| Network | - |
| Gene | PAX6 [HSA:5080] [KO:K08031] SALL2 [HSA:6297] [KO:K19871] YAP1 [HSA:10413] [KO:K16687] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA11 ICD-10: Q13 MeSH: D003103 OMIM: 120200 120433 216820 |
| Reference | PMID:21655361 AUTHORS Kumar K, Tanwar M, Naithani P, Insaan R, Garg S, Venkatesh P, Dada R TITLE PAX6 gene analysis in irido-fundal coloboma. JOURNAL Mol Vis 17:1414-9 (2011) PMID:18408502 AUTHORS Gopal L TITLE A clinical and optical coherence tomography study of choroidal colobomas. JOURNAL Curr Opin Ophthalmol 19:248-54 (2008) DOI:10.1097/ICU.0b013e3282fc2604 PMID:12721955 AUTHORS Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M TITLE Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. JOURNAL Am J Hum Genet 72:1565-70 (2003) DOI:10.1086/375555 PMID:24412933 AUTHORS Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC TITLE Mutation of SALL2 causes recessive ocular coloboma in humans and mice. JOURNAL Hum Mol Genet 23:2511-26 (2014) DOI:10.1093/hmg/ddt643 PMID:24462371 AUTHORS Williamson KA, Rainger J, Floyd JA, Ansari M, Meynert A, Aldridge KV, Rainger JK, Anderson CA, Moore AT, Hurles ME, Clarke A, van Heyningen V, Verloes A, Taylor MS, Wilkie AO, Fitzpatrick DR TITLE Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. JOURNAL Am J Hum Genet 94:295-302 (2014) DOI:10.1016/j.ajhg.2014.01.001 |