KEGG   DISEASE: Ocular coloboma
H01114                      Disease                                
Ocular coloboma
Coloboma of iris choroid and retina (COI)
Coloboma of optic nerve (COLON)
Optic nerve hypoplasia [DS:H02203]
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.
Congenital malformation
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA11  Structural developmental anomalies of the anterior segment of eye
     H01114  Ocular coloboma
PAX6 [HSA:5080] [KO:K08031]
SALL2 [HSA:6297] [KO:K19871]
YAP1 [HSA:10413] [KO:K16687]
Other DBs
ICD-11: LA11
ICD-10: Q13
MeSH: D003103
OMIM: 120200 120433 216820
Kumar K, Tanwar M, Naithani P, Insaan R, Garg S, Venkatesh P, Dada R
PAX6 gene analysis in irido-fundal coloboma.
Mol Vis 17:1414-9 (2011)
Gopal L
A clinical and optical coherence tomography study of choroidal colobomas.
Curr Opin Ophthalmol 19:248-54 (2008)
Azuma N, Yamaguchi Y, Handa H, Tadokoro K, Asaka A, Kawase E, Yamada M
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
Am J Hum Genet 72:1565-70 (2003)
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
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Hum Mol Genet 23:2511-26 (2014)
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
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Am J Hum Genet 94:295-302 (2014)

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