Hereditary retinal vasculopathy with cerebral white matter lesions

Am J Med Genet. 1989 Oct;34(2):217-20. doi: 10.1002/ajmg.1320340217.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Leukoencephalopathy, Progressive Multifocal / etiology*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Pedigree
  • Radionuclide Imaging
  • Retinal Diseases / diagnostic imaging
  • Retinal Diseases / genetics*
  • Retinal Vessels*
  • Syndrome
  • Vascular Diseases / complications*