" /> Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations - CISMeF





Preferred Label : Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations;

Symbol : RVCLS;

CISMeF acronym : RVCL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebroretinal vasculopathy, hereditary; CRV; Retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena; Vasculopathy, retinal, with cerebral leukodystrophy;

Description : Retinal vasculopathy with cerebral leukodystrophy is an adult-onset autosomal dominant disorder involving the microvessels of the brain and resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline. Death occurs in most patients 5 to 10 years after onset. A subset of affected individuals have systemic vascular involvement evidenced by Raynaud's phenomenon, micronodular cirrhosis, and glomerular dysfunction (summary by Richards et al., 2007).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the 3-prime repair exonuclease 1 gene (TREX1, 606609.0008);

Laboratory abnormalities : Proteinuria; Hematuria; Abnormal liver enzymes;

Prefixed ID : #192315;

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29/07/2025


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