Optic disc coloboma in two nigerian siblings: Case report and review of literature

Abstract

We report two cases of bilateral asymmetric optic disc coloboma (ODC) in siblings. The index patient is a 9‑year‑old Nigerian girl with severe cognitive deficit who presented with a poor vision of 3 years’ duration. She had a history of childhood febrile convulsions and delayed developmental milestones. Her visual acuity could not be assessed because she had a cognitive deficit and expressive aphasia. Ocular examination revealed a very large excavated right optic disc with only a strip of remnant neuro‑retinal rim superiorly, and a smaller left optic disc with inferior disc excavation, superior wedge of the pink neuro‑retinal rim as well as a temporal optic disc pit. No systemic features of syndromes associated with ODCs and intellectual disability were present in both patients. The younger sibling an 8‑year‑old girl later presented to the eye clinic with a 5‑month history of poor vision in the left eye. Ocular examination revealed visual acuity of 6/6 in the right eye and counting fingers in the left eye. Dilated binocular indirect ophthalmoscopy revealed a right large excavated colobomatous disc and a left small disc with infero‑temporal disc coloboma.

Keywords: Optic disc coloboma, cognitive deficit, Nigeria