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Genetic and Rare Diseases Information Center (GARD)

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Retinal vasculopathy with cerebral leukodystrophy


Other Names for this Disease
  • ADRVCL
  • Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy
  • Cerebroretinal vasculopathy, hereditary
  • CRV
  • Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
More Names
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Overview


Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause.[1]

RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR).[2]
Last updated: 10/9/2013

References

  1. Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL). NIMBL. 2013; http://www.nimbl.eu/ni/Home. Accessed 10/9/2013.
  2. David Kavanagh et al. New roles for the major human 3'–5' exonuclease TREX1 in human disease. Cell Cycle. June 15, 2008; 7(12):1718-1725.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Retinal vasculopathy with cerebral leukodystrophy. Click on the link to view a sample search on this topic.