Congenital aniridia: etiology, manifestations and management

Abstract excerpt

Congenital aniridia manifests as total or partial absence of the iris, caused most commonly by mutations in PAX6, FOXC1, PITX2, and CYP1B1. Recently two new genes, FOXD3 and TRIMM44, have also been implicated in isolated studies. We discuss the genotype-phenotype correlations for the main implicated genes. Classic aniridia is a panocular condition, which includes aniridia, cataract, corneal pannus, foveal, and...

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