Shedding light on congenital aniridia: an in-depth study of two cases

Abstract

Congenital aniridia is a rare ocular disorder characterized by the partial or complete absence of iris tissue. Although the classic form is associated with a range of ocular abnormalities, including foveal and optic nerve hypoplasia, nystagmus, and cataracts, it is the onset of glaucoma, cataracts, and keratopathy that most significantly impair vision in affected patients. Typically caused by mutations in the PAX6 gene, which encodes the paired box protein Pax-6, aniridia can also be associated with systemic conditions such as WAGR syndrome. This study emphasizes the importance of comprehensive ophthalmic examination and genetic testing in diagnosing and managing aniridia, particularly when associated with systemic conditions. Multidisciplinary management and regular follow-up are essential to monitor for potential complications, including Wilms' tumor, ensuring optimal care for affected patients.

Keywords

• Congenital aniridia
• WAGR syndrome
• Genetics
• Keratopathy
• Glaucoma
• Cataract