title: Retinal phakomata associated with cerebral astrocytoma. An incomplete form of Bourneville-Pringle disease?
abstract: We report on a 21-year-old, male patient with unilateral retinal phakomata associated with histologically proved cerebral astrocytoma. The patient had presented with bilateral loss of vision and a left-sided hemiparesis. Ophthalmoscopy showed bilateral optic nerve atrophy, multiple punched-out areas of depigmentation and astrocytic hamartomata in the right eye. Despite the absence of classic signs of Bourneville-Pringle disease such as adenoma sebaceum, epilepsy and mental retardation, a strongly presumptive diagnosis of tuberous sclerosis could be made. This unusual case demonstrates that retinal phakomata can be the solely visible manifestation of Bourneville-Pringle disease.
authors.affiliation: Department of Ophthalmology, University of Innsbruck, Austria.
authors.forename: A
authors.initials: A
authors.lastname: Ettl
authors.forename: W
authors.initials: W
authors.lastname: Philipp
authors.forename: U
authors.initials: U
authors.lastname: Mayer
mesh_terms: D000328:Adult; D001254:Astrocytoma / Q000150:complications / Q000473:pathology*; D001766:Blindness / Q000473:pathology; D001932:Brain Neoplasms / Q000150:complications / Q000473:pathology*; D005654:Fundus Oculi; D006429:Hemiplegia / Q000473:pathology; D006801:Humans; D008297:Male; D009896:Optic Atrophy / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000473:pathology*; D014792:Visual Acuity