Description

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. The annual incidence is estimated at 1/ 64,000- 1/ 96,000. Aniridia is due to mutations in the PAX6 gene (11p13) encoding a transcriptional regulator involved in oculogenesis. PAX6 mutations result in alterations in corneal cytokeratin expression, cell adhesion and glycoconjugate expression.

External Information

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