Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives

Abstract

Abstract Tuberous sclerosis complex (TSC) is a complex, multi-system disorder with a well-described underlying genetic etiology. While retinal findings are common in TSC and important in establishing the diagnosis, TSC also has many potential neuro-ophthalmology manifestations. The neuro-ophthalmology manifestations of TSC can have a significant impact on visual function and are sometimes a sign of serious neurological disease. The purpose of this review is to describe the neuro-ophthalmological manifestations of TSC. These manifestations include optic nerve hamartomas, elevated intracranial pressure, cranial nerve palsies, cortical visual impairment, visual field deficits, and ocular toxicity from vigabatrin treatment of infantile spasms. It is important to be aware of potential neuro-ophthalmological manifestations in these patients in order to detect signs of vision- or life-threatening disease and to optimize visual function and quality-of-life.