Familial cavernous malformations of the central nervous system and retina

William B. Dobyns, Virginia V. Michels, Robert V. Groover, Bahram Mokri, James C. Trautmann, Glenn S. Forbes, Edward R. Laws

Research output: Contribution to journalArticlepeer-review

83 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)578-583
Number of pages6
JournalAnnals of Neurology
Volume21
Issue number6
DOIs
StatePublished - Jun 1987
Externally publishedYes

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