Optic Disc Coloboma in Two Nigerian Female Siblings
Glaucoma
Abstract
Introduction:
Optic disc coloboma is characterized by a bowl-shaped excavation of the optic disc and results from incomplete closure of the embryonic fissure.[1] We report a case of optic disc coloboma in 2 Nigerian female siblings.
Methods: Case report.
Sibling 1: A 9-year old girl was referred from a catholic hospital on suspicion of having congenital glaucoma. She presented with a 3-year history of poor vision in both eyes with history of learning disability following childhood febrile convulsions. She lacked adequate social skills expected for age but was otherwise healthy. Her visual acuity could not be assessed as she was uncooperative, however fixation in both eyes was central, steady and maintained. Both anterior segments were normal and IOP was 12mmHg bilaterally. Binocular indirect ophthalmoscopy (BIO) of the RE revealed an enlarged optic disc with inferior whitish bowl shaped excavations, a strip of pink NRR superiorly, normal vessels/macula and flat retina. Her LE revealed an enlarged optic disc with inferior whitish bowl-shaped excavation and superior wedge of pink NRR. A coexisting optic disc pit was also seen at the temporal aspect of the left disc with normal vessels/macula and flat retina. A diagnosis of Bilateral Optic Disc Coloboma and Left Optic Disc Pit was made. She had refraction and spectacles were prescribed. She was referred to a paediatric neurologist who made an assessment of severe intellectual disability and recommended a special tutor.
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