Abstract

Congenital aniridia is a rare potentially blinding pan-ocular disease, with syndromic association reported in 15% cases. We report this rare case to highlight a holistic approach to evaluation and management of patients with aniridia.

Our patient 30yr/F came for routine left eye cataract surgery. Ophthalmic examination revealed rotational nystagmus, congenital ptosis, bilateral congenital aniridia, right eye cortical cataract with chorioretinal coloboma and left eye superonasally subluxated mature cataract. The left eye was subsequently operated for cataract; scleral fixated aniridia lens was implanted leading to improvement in vision.

Detailed history revealed absence of menarche. Referral to a gynecologist led to diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome, following which patient continued to seek consultations for family planning.

Therefore, multidisciplinary evaluation and management of patients with congenital aniridia is imperative to optimise their quality of life.