Vasculopathy, retinal, with cerebral leukodystrophy

Common Name(s)

Vasculopathy, retinal, with cerebral leukodystrophy

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.

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).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Vasculopathy, retinal, with cerebral leukodystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Vasculopathy, retinal, with cerebral leukodystrophy" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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The terms "Vasculopathy, retinal, with cerebral leukodystrophy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Aclarubicin for the Treatment of Retinal Vasculopathy With Cerebral Leukodystrophy
 

Status: Recruiting

Condition Summary: Vasculopathy, Retinal, With Cerebral Leukodystrophy; Cerebroretinal Vasculopathy, Hereditary

 

Last Updated: 15 Dec 2016

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