Case of a diagnostic challenge: Retinal astrocytic hamartoma or retinoblastoma?

Abstract

Retinal manifestations of tuberous sclerosis (TS) include retinal astrocytomas and retinal granulomas. The retinal astrocytomas and retinal granulomas are benign tumors which clinically appear indistinguishable from retinoblastoma (Rb) lesions in their early stages. We report a case of TS with features of retinal hamartomas which closely resemble Rb lesions. We emphasize the important role of ocular coherence tomography in combination with frequent examinations under anesthesia to differentiate the two entities. TS and Rb can present as the most dangerous combination, and it's best not to assume a malignant condition as a benign one at the cost of a child's life.

Keywords

• retinal astrocytoma
• retinoblastoma
• tuberous sclerosis