Bilateral astrocytic hamartoma in retinitis pigmentosa: A rare association

Abstract

Astrocytic hamartomas are benigh tumors that arise in retina and / or optic nerve anterior to lamina cribrosa (optic nerve head). Hamartomas can be solitary or may be associated with phakomatosis. A 15 year-old patient presented with complaint of night blindness since childhood. Ocular examination showed pigmentary retinopathy at mid peripheral retina with superficial globules at optic nerve head margin in both eyes. Multimodal imaging was done to diagnose it as astrocytic hamartoma. Systemic examination revealed profound sensorineural hearing loss. Family history was positive for retinitis pigmentosa. This case report describes the rare association of astrocytic hamartomas with retinitis pigmentosa..

Keywords

• astrocytoma
• drusens
• retinitis pigmentosa
• sensorineural deafness
• usher