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Table 2 Ocular phenotypes associated with gene mutations linked to anophthalmia/microphthalmia.

From: Anophthalmia and microphthalmia

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