Abstract

OBJECTIVE: To report a rare case of aniridia with ectopia lentis and amblyopia.
METHODS: A 13-year-old female presented to the OPD with complaints of gradual painless progressive loss of vision in both eyes since early childhood. General examination revealed low-set ears. Ophthalmic examination showed horizontal nystagmus in both eyes, vision was 1/60 NIG NIP with +10 D improving to 6/60, aniridia and superiorly subluxated lens with minimal lens changes in both eyes. Gonioscopy showed open angles in both eyes. Fundus examination and Bscan were normal in both eyes. OCT macula showed foveal hypoplasia in both eyes. UBM showed superiorly subluxated lens with zonular stretching in both eyes.

RESULTS: A battery of investigations were done to rule out syndromic associations like WAGR and Gillespie syndromes, but it was a case of isolated aniridia. As vision improved with +10D lenses and high incidence of adverse effects with aniridia implants in children, spectacles were prescribed.