retinal vasculopathy with cerebral leukodystrophy

Term ID

DOID:0111567

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. https://www.ncbi.nlm.nih.gov/pubmed/17660820

References

• GARD:1217
• MESH:C566007
• MIM:192315
• ORDO:247691
• SNOMEDCT_US_2023_03_01:783787000
• UMLS_CUI:C1860518

Ontology

Human Disease   ( DOID:0111567 )