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Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

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

Classification level: Disorder
  • Synonym(s):
    • RVCL
    • RVCL-S
    • Retinal vasculopathy and cerebral leukoencephalopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: -
  • OMIM: 192315
  • UMLS: C1860518
  • MeSH: -
  • GARD: 1217
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.