Hereditary retinal vasculopathy with cerebral white matter lesions.
We report on a syndrome of progressive visual loss and leukoencephalopathy affecting several relatives. Affected individuals had evidence of retinal vasculopathy on fluorescein angiogram and periventricular white matter lesions on brain magnetic resonance imaging. The clinical manifestations in this family suggest transmission of an autosomal dominant vasculopathy affecting both retinal and intracranial vessels.
Gutmann
D H
DH
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia 19104.
Fischbeck
K H
KH
Sergott
R C
RC
D000328:Adult; D005260:Female; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000209:etiology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011877:Radionuclide Imaging; D012164:Retinal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D012171:Retinal Vessels; D013577:Syndrome; D014652:Vascular Diseases / Q000150:complications*