Ophthalmic manifestations of tuberous sclerosis: A diagnostic clue

Abstract

A 22-year-old female with severe headache was referred to eye outpatient department for fundus examination with a possibility of intracranial space-occupying lesion. On fundus examination, we found bilateral disc edema with creamy white elevated lesion in the left eye suggestive of retinal astrocytoma which was confirmed by spectral-domain optical coherence tomography. Hence, the patient underwent magnetic resonance imaging brain, ultrasonography abdomen, and dermatological workup which confirmed it to be the case of tuberous sclerosis. This case report exemplifies the systemic manifestations of tuberous sclerosis complex and its specific expression in the eye. Hence, in turn, to establish an appropriate diagnosis, retinal manifestations of the disorder must not be overlooked.

Keywords

• retinal astrocytoma
• subependymal nodules
• tuberous sclerosis