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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Disease definition

A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients.


Classification level: Disorder
  • Synonym(s):
    • RVCL
    • RVCL-S
    • Retinal vasculopathy and cerebral leukoencephalopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult, Elderly
  • ICD-10: I77.8
  • ICD-11: 9B78.0
  • OMIM: 192315
  • UMLS: C1860518
  • MeSH: C566007
  • GARD: 1217
  • MedDRA: -

Detailed information


Disease review articles

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