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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