ocular coloboma
Definition: Incomplete closure of the fissure of the embryonic optic cup, which mainly affects the iris.
Types:
iris coloboma
uveal coloboma
retinal coloboma
Etiology (Exemples)
germline mutations in
- PAX6 (MIM.607108)
- SHH (sonic hedgehog) (MIM.600725)
- MAF
- GDF6 at 8q21.2-q22.1 (MIM.601147)
See also
ocular malformations
references
Asai-Coakwell M, French CR, Berry KM, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz AJ, Lehmann OJ. GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet. 2007 Feb;80(2):306-15. PMID: #17236135#