autosomal dominant retinal vasculopathy with cerebral leukodystrophy
MeSH: C566007ORPHA: 247691
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with autosomal dominant retinal vasculopathy with cerebral leukodystrophy, sourced from HPO and Orphanet clinical annotations.
Abnormal cerebral white matter morphologyAbnormal retinal vascular morphologyRaynaud phenomenonProteinuriaGlomerular sclerosisNephropathyAtypical behaviorHypertensionNormochromic anemiaNormocytic anemiaMigraineElevated circulating alkaline phosphatase concentrationElevated circulating creatinine concentrationAbnormality of the hepatic vasculatureCompensated hypothyroidismNodular regenerative hyperplasia of liverElevated gamma-glutamyltransferase levelCognitive impairmentBrain imaging abnormalityGlaucomaPsychosisDepressionIrritabilityAnxietyApathyTelangiectasiaVisual field defectHemiparesisCardiomyopathyMigraine with auraMigraine without auraPneumoniaGeneralized-onset seizureGastrointestinal hemorrhageProgressive neurologic deteriorationMemory impairmentAphasiaCerebral calcificationFocal sensory seizure with somatosensory featuresHemianopiaWeakness of facial musculatureRetinal neovascularizationRetinal cotton wool spotMacular edemaFocal hyperintensity of cerebral white matter on MRIFocal hypointensity of cerebral white matter on MRISepsisSkin rashAvascular necrosis of the capital femoral epiphysisPunctate vasculitis skin lesions
Classification & Codes
MeSH Code
C566007Orphanet Code
ORPHA:247691autosomal dominant retinal vasculopathy with cerebral leukodystrophy
| MeSH | C566007 |
| Orphanet | ORPHA:247691 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO