• 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.
Goldberg RE, Pheasant TR, Shields JA. Cavernous Hemangioma of the Retina: A Four-Generation Pedigree With Neurocutaneous Manifestations and an Example of Bilateral Retinal Involvement. Arch Ophthalmol. 1979;97(12):2321–2324. doi:10.1001/archopht.1979.01020020537005
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.