Optic disc coloboma in a case of familial aniridia - A rare association

Congenital aniridia is a panocular anomaly presenting with a variety of ocular defects. Common manifestations in the anterior segment include keratopathy, glaucoma, iris hypoplasia and cataracts, and those in the posterior segment include optic disc hypoplasia and foveal hypoplasia. We report a rare case of congenital familial aniridia that presented with bilateral optic disc coloboma apart from the other commonly associated panocular defects. Apart from defective embryogenesis, coexisting abnormal closure of the embryonic fissure is the likely reason for this rare manifestation. Knowledge regarding the various ocular defects that can be associated with Aniridia helps the clinician to look out for the same and prognosticate visual potential in such patients.