SOX2 Anophthalmia Syndrome

SOX2 Anophthalmia Syndrome

SOX2 anophthalmia syndrome is a rare congenital disorder caused by mutations in the SOX2 gene, leading to underdeveloped or absent eyes (anophthalmia). It often includes other abnormalities such as brain malformations, esophageal atresia, and developmental delays. This syndrome represents a significant genetic condition impacting eye and neurological development.