Contributor: Gordon K. Klintworth
Tuberous sclerosis (Bourneville syndrome, Bourneville disease, epiploia) is a genetically heterogenous autosomal dominant inherited syndrome characterized by numerous hamartomas [hamartoma] and hamartias in many parts of the body. At least four genetic phenotypes of tuberous sclerosis are recognized: tuberous sclerosis type I, tuberous sclerosis type II, tuberous sclerosis type III, and  tuberous sclerosis type IV. Ophthalmic manifestations include retinal astrocytic hamartomas of the retina [astrocytic hamartoma] and persistent hyperplastic primary vitreous.