Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Definition
An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.
Also known as hereditary vascular retinopathy, retinal vasculopathy and cerebral leukoencephalopathy, RVCL, RVCL-S, vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations — per MONDO