retinal vasculopathy with cerebral leukodystrophy (DOID:0111567)
Alliance: disease page
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
Alt IDs: OMIM:192315, MESH:C566007, ORDO:247691, UMLS_CUI:C1860518
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.