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Ocular phenotypes associated with gene mutations linked to anophthalmia/microphthalmia. |
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| Gene |
Locus (Inheritance) |
Major (and selected less common) Human Ocular Phenotype(s) |
OMIM [54] |
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| 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 |
Verma and FitzPatrick Orphanet Journal of Rare Diseases 2007 2:47 doi:10.1186/1750-1172-2-47 |
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