The abortive form of Bourneville-Pringle syndrome.
METHODS
To present a 26-year-old woman affected by the abortive form of Bourneville-Pringle syndrome. To our knowledge, this disease is unusual since only very few cases have been reported in the scientific literature at this time.


CONCLUSIONS
Visual acuity was 20/20 in both eyes. No relevant ocular abnormalities were observed excepting two retinal hamartomas, a smaller one in the nasal midperiphery of the right eye and a larger one located along the super-temporal retinal vessels of the left eye. Classical signs of Bourneville-Pringle disease, such as mental retardation and epilepsy, were absent whereas a slight facial adenoma sebaceum and renal cysts represented the solely systemic manifestations of the disease. This case report confirms that retinal phakomata are a typical manifestation of Tuberous Sclerosis, even in the absence of a detected involvement of the brain.
Giusti
C
C
Department of Ophthalmology, Campus Bio-Medico University, Rome, Italy.
D000328:Adult; D005260:Female; D006222:Hamartoma / Q000000981:diagnostic imaging; D006801:Humans; D011859:Radiography; D012164:Retinal Diseases / Q000000981:diagnostic imaging; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D014792:Visual Acuity