Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Retinal vasculopathy with cerebral leukodystrophy


Other Names for this Disease
  • Cerebroretinal vasculopathy, hereditary
  • CRV
  • Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
  • RVCL
  • Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Contact GARD
Contact GARD
Contact a GARD Information Specialist with your questions about this condition.

Basic Information

  • Genetics Home Reference (GHR) contains information on Retinal vasculopathy with cerebral leukodystrophy. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • 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.
Other Names for this Disease
  • Cerebroretinal vasculopathy, hereditary
  • CRV
  • Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
  • RVCL
  • Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.