retinal vasculopathy with cerebral leukodystrophy

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

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.

Signs and symptoms

• Migraine
• Stroke
• Apraxia
• Diminished ability to concentrate
• Telangiectasia
• Abnormal periventricular white matter morphology
• Limb pain
• Hemiparesis
• Elevated circulating hepatic transaminase concentration
• Retinal exudate

Also known as: CRV; RVCL; RVCL-S; hereditary cerebroretinal vasculopathy; retinal vasculopathy and cerebral leukoencephalopathy