Human genes for retinal vasculopathy with cerebral leukodystrophy
Retinal vasculopathy with cerebral leukodystrophy [DOID:0111567]
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.
Synonyms: retinal vasculopathy with cerebral leukodystrophy, DOID:0111567, retinal vasculopathy with cerebral leukodystrophies, CRV, RVCL ...