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CASE REPORT
Year : 2017  |  Volume : 20  |  Issue : 11  |  Page : 1505-1509

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


1 Department of Ophthalmology, University College Hospital; Department of Ophthalmology, College of Medicine, University of Ibadan, Ibadan, Nigeria
2 Department of Ophthalmology, University College Hospital, Ibadan, Nigeria

Correspondence Address:
Dr. O O Olawoye
Department of Ophthalmology University College Hospital, Ibadan
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/njcp.njcp_412_16

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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.


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