Bilateral Disc and Macular Coloboma

Abstract

An 80-year-old female presented with gradual, painless diminution of vision in both eyes over 2 months. Examination revealed bilateral pseudophakia and markedly reduced visual acuity. Fundus evaluation showed large, well-circumscribed chorioretinal colobomas involving both the optic disc and macula in both eyes. The lesions were pale, excavated, and sclera-baring with scalloped pigmented margins. Optical coherence tomography confirmed thinning and excavation of retinal layers. There was no evidence of inflammation or infection, and serology for Toxoplasma gondii was negative. Based on the bilateral, symmetric morphology and absence of inflammatory features, a diagnosis of bilateral atypical optic disc and macular coloboma was made. This rare presentation is discussed with emphasis on embryology, differential diagnosis, and clinical implications.