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Familial cavernous malformations of the central nervous system and retina
Author(s) -
Dobyns William B.,
Michels Virginia V.,
Groover Robert V.,
Mokri Bahram,
Trautmann James C.,
Forbes Glenn S.,
Laws Edward R.
Publication year - 1987
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410210609
Subject(s) - cavernous malformations , penetrance , retina , proband , central nervous system , retinal , medicine , hemangioma , anatomy , pathology , biology , ophthalmology , neuroscience , lesion , genetics , mutation , phenotype , gene
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.