Cavernous hemangioma of the retina. A four-generation pedigree with neurocutaneous manifestations and an example of bilateral retinal involvement.
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.
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