Term Name: retinal vasculopathy with cerebral leukodystrophy
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 )

Relationships
is a type of: autosomal dominant disease vascular disease