Bilateral Sequential Profound Visual Loss in Tuberous Sclerosis

Abstract

Tuberous sclerosis is a rare, autosomal dominant condition characterized by multiple systemic benign tumor growths. Ocular manifestations include the development of retinal and optic nerve head astrocytic hamartomas. Retinal astrocytic hamartomas are benign, uncommon lesions which rarely progress or cause deterioration in visual function. We present a case of profound visual loss in a 17-year-old male with tuberous sclerosis. He had multiple intracranial lesions which had been debulked, secondary hydrocephalus which was shunted, swollen optic nerves, and asymmetric astrocytic hamartomas of the optic nerve head and retina. He was subsequently registered with severe visual impairment. This case demonstrates complex interactions and mechanisms precipitating unexpected catastrophic bilateral loss of vision in a teenage boy in a condition which rarely impacts visual outcome.

Keywords: Astrocytic hamartomas; optic nerve head; retinal; tuberous sclerosis; visual loss.