article · PubMed
Optic disc coloboma is an uncommon congenital defect affecting the optic nerve. A clinical case documents an adolescent in northwestern Nigeria presenting with three months of blurred distance vision, eye pain, tearing, and headaches during reading, having never previously worn spectacles. Detailed ocular assessment revealed excellent best corrected visual acuity of 6/5 in the right eye and 6/6 in the left eye. Dilated fundoscopy identified bilateral optic disc enlargement characterised by white, bowl-shaped excavations, absent inferior neuroretinal rims, and thinned superior rims. In addition, the right eye exhibited a well-defined oval retinochoroidal defect positioned inferior and slightly temporal to the optic disc. The patient showed normal developmental history, no systemic illness or trauma, and an absence of syndromic features or secondary ocular complications typically linked to such colobomas.
Ocular colobomas are rare congenital malformations that can threaten sight or signal broader systemic conditions. Documenting presentations where patients maintain excellent corrected visual acuity despite severe structural defects helps clinicians accurately recognise atypical features. It also reinforces the importance of thorough fundus evaluations in young patients presenting with routine complaints such as reading-induced headaches and distance vision issues.
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Optic disc coloboma is a rare congenital anomaly of the optic nerve. We report a case of bilateral optic disc coloboma with coexisting unilateral retino choroidal coloboma in an adolescent from Northwestern Nigeria, who presented with complaints of difficulty seeing distant objects for 3 months, associated with ocular pains, tearing, and headache while reading. She had never worn spectacles. No previous history of systemic illnesses or trauma. Developmental milestones were optimal for age. Ocular examination revealed a best corrected visual acuity of 6/5 and 6/6 in the right and left eyes respectively. Dilated fundoscopy revealed an enlarged bilateral optic disc with a white bowl-shaped excavation, absent inferior neuro retinal rim, thin superior rim, and an area of well-defined oval retino choroidal defect, located inferior and slightly temporal to the right optic disc. No syndromic features or any ocular complications associated with optic disc and retino choroidal colobomas were seen.
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DOI: 10.71480/nmj.v66i3.792
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