Year: 2025
Type: article
Study design: Case Report
Abstract: Aims: To report an unusual bilateral presentation combining anterior and posterior segment colobomas with marked asymmetry in visual outcome, highlighting the importance of detailed clinical and imaging assessment particularly when there is significant asymmetry in anatomical involvement and visual outcome.Presentation of Case: A 17-year-old female with no significant medical or familial history presented with decreased visual acuity in her right eye.Visual acuity was limited to counting fingers in the right eye and 20/20 in the left.Slit-lamp examination revealed an iris coloboma in the left eye.Fundus examination showed a large chorioretinal coloboma involving the optic disc and inferior retina in the right eye.A smaller, inferotemporal chorioretinal coloboma was also observed in the left eye, sparing the macula.Neurological and systemic evaluations were unremarkable.Discussion: This case illustrates the heterogeneity of colobomatous malformations in terms of anatomical presentation and visual prognosis.The presence of extensive posterior segment Case Report
Institution: University of Sousse
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
OpenAlex ID: W4413301557