Familial cavernous malformations of the central nervous system and retina.
We studied a family in which 4 persons from three generations had multiple cavernous malformations ("angiomas") of the central nervous system (CNS) and/or retina and found accounts in the literature of sixteen other families with this condition. In these families with familial cavernous malformation of the CNS and retina, 92% of pathologically documented vascular malformations were cavernous; 50% of those subjects affected had multiple CNS and/or retinal vascular malformations and 68% (excluding probands) were symptomatic. Cutaneous vascular lesions were an inconsistant manifestation. Autosomal dominant inheritance with high penetrance was confirmed.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006392:Hemangioma, Cavernous / Q000235:genetics*; D006801:Humans; D008297:Male; D012164:Retinal Diseases / Q000235:genetics*