Article
The genetic architecture of microphthalmia, anophthalmia and coloboma.
European journal of medical genetics - 1 Aug 2014
Williamson Kathleen A, FitzPatrick David R
Abstract excerpt
Microphthalmia, anophthalmia and coloboma (MAC) are distinct phenotypes that represent a continuum of structural developmental eye defects. In severe bilateral cases (anophthalmia or severe microphthalmia) the genetic cause is now identifiable in approximately 80 percent of cases, with de novo heterozygous loss-of-function mutations in SOX2 or OTX2 being the most common. The genetic cause of other forms of MAC,...
Topics
- Alleles
- Anophthalmos
- Coloboma
- Humans
- Microphthalmos
- Mutation