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ocular coloboma

Friday 13 May 2005

Definition: Incomplete closure of the fissure of the embryonic optic cup, which mainly affects the iris.


- 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


- 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