Gene | Locus (Inheritance) | Major (and selected less common) Human Ocular Phenotype(s) | OMIM [54] |
---|---|---|---|
SOX2 | 3q26.3-q27 (AD) | Anophthalmia/microphthalmia | 184429 |
PAX6 | 11p13 (AD) | Aniridia, (Peters anomaly, autosomal dominant keratopathy, foveal hypoplasia, optic nerve malformations, anophthalmia) | 607108 |
OTX2 | 14q22 (AD) | Anophthalmia/microphthalmia, (retinal dysplasia, optic nerve malformations) | 600037 |
RAX | 18q21.3 (AR) | Anophthalmia/microphthalmia | 601881 |
CHX10 | 14q24.3 (AR) | Microphthalmia | 142993 |
FOXE3 | 1p32 | Anterior segment dysgenesis, congenital primary aphakia | 601094 |
CRYBA4 | 22q11.2-q13.1 (AD) | Autosomal dominant cataract, (microphthalmia) | 123631 |