Microphthalmia / Anophthalmia (VSX2)

Microphthalmia / anophthalmia is an autosomal recessive disorder caused by pathogenic variants in the gene VSX2. While this disorder has been reported in patients of different ethnicities, a founder effect has been identified in the Sephardic Jewish population from Iran and Syria. This disorder is characterized by very small or missing eyes and associated vision loss. One or both eyes may be affected. Patients may also have cataracts or colobomas (missing parts of the eye). Intelligence is not affected, and lifespan is normal. No genotype-phenotype correlation has been reported, and therefore the severity of the disease cannot be predicted based on genotype.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Microphthalmia / AnophthalmiaVSX21-4 [5] (*8)ARWorldwide< 1 in 50091%0.00018034265103697
Microphthalmia / AnophthalmiaVSX21-4 [5] (*8)ARSephardic Jewish – Iranian and Syrian1 in 14540%0.004149377593361