Abstract
Ocular surface may be affected by various rare congenital diseases. Anterior segment dysgenesia and congenital panocular diseases affecting ocular surface is usually from genetic origin. The ocular surface in aniridia may present progressive opacities due to limbal insufficiency creating Aniridia Associative Keratopathy (AAK). Molecular genetics usually reveals PAX6 gene mutation or deletion. Gene therapies in eyedrop form and repurposing drugs are tested for their efficacy and safety in congenital aniridia. Mechanisms and physiopathology of new gene therapies and drugs will be developed.
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