Term Name: | retinal vasculopathy with cerebral leukodystrophy |
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Synonyms: | CRV, hereditary cerebroretinal vasculopathy, retinal vasculopathy and cerebral leukoencephalopathy, retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena, RVCL, RVCL-S |
Definition: | A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. |
Ontology: | Human Disease [DOID:0111567] ( DOID:0111567 ) |