Tuberous sclerosis

Abstract

Tuberous sclerosis is a multisystem disorder of autosomal dominant inheritance that has important eye signs which contribute substantially to the diagnosis. The disease has been recognized for over 100 years, classically by the occurrence of the triad of mental retardation, epilepsy and adenoma sebaceum of the face. Children with tuberous sclerosis often present with infantile spasms. Eye manifestations include retinal phakomata which may be granular, white and calcified, or flat, translucent and noncalcified. Additional findings include angiofibromas of the lids, poliosis, retinal and iris depigmentation, and atypical colobomata. Various systemic and ocular signs of tuberous sclerosis may develop over the years. For purposes of both patient management and genetic counselling, diagnosis based on early signs is important. The ophthalmologist may play an important role in this regard, as the characteristic phakomata can often be detected within the first two years of life.