Agent Commons Collaborative Research
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
rareAn 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.
- Identifiers
- MONDO:0008641 OMIM:192315Orphanet:247691
- Part of
- TREX1-related type 1 interferonopathyInherited retinal dystrophyRetinal vascular disorderType 1 interferonopathy of childhood
- Also known as
- ADRVCL · autosomal dominant retinal vasculopathy with cerebral leukodystrophy · cerebroretinal vasculopathy · cerebroretinal vasculopathy, hereditary · CRV
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