title: Cavernous hemangioma of the retina. A four-generation pedigree with neurocutaneous manifestations and an example of bilateral retinal involvement.
abstract: Cavernous hemangioma of the retina is an unusual vascular hamartoma whose coexistence with vascular anomalies of the skin and central nervous system has been recognized recently. A 39-year-old woman, who had an acute palsy of the right third cranial nerve, had a history of seizures, cutaneous vascular anomalies, and a cavernous hemangioma of the retina of the right eye. One of her daughters demonstrated bilateral retinal cavernous hemangiomas, and another daughter, who developed seizures when febrile, displayed cutaneous vascular anomalies. A four-generation pedigree showed a number of cutaneous vascular anomalies, seizures, and stroke-related deaths. The pedigree suggests further support for considering this disorder an authentic oculoneurocutaneous triad.
mesh_terms: D000328:Adult; D002196:Capillaries; D002561:Cerebrovascular Disorders / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D005134:Eye Neoplasms / Q000150:complications / Q000235:genetics*; D005260:Female; D006392:Hemangioma, Cavernous / Q000150:complications / Q000235:genetics*; D006801:Humans; D009802:Oculomotor Nerve; D010243:Paralysis / Q000209:etiology; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D012160:Retina; D012640:Seizures / Q000209:etiology; D012867:Skin / Q000098:blood supply