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Retinal vasculopathy and cerebral leukoencephalopathy

Disease definition

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

ORPHA:247691

  • Synonym(s):
    • RVCL
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 192315
  • UMLS: -
  • MeSH: -
  • GARD: 1217
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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