retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

MONDO:0008641Mondo

Findings

No curated finding names retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

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.

Definition from the Mondo Disease Ontology (MONDO:0008641), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal dominant inheritance
Onset and course: Adult onset

Features

52 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Abnormal cerebral white matter morphologyHPOHP:0002500
- Very frequent (80% to 99% of cases)
Abnormal retinal vascular morphologyHPOHP:0008046
- Very frequent (80% to 99% of cases)
Raynaud phenomenonHPOHP:0030880
- 31 of 73 reported patients
- Very frequent (80% to 99% of cases)
Abnormality of the hepatic vasculatureHPOHP:0006707
- Frequent (30% to 79% of cases)
Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

TREX1HGNC:12269
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: inherited retinal dystrophy
retinal vascular disorder
TREX1-related type 1 interferonopathy
type 1 interferonopathy of childhood

Other names

5 names

Resolves to: retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Also called: hereditary vascular retinopathyretinal vasculopathy and cerebral leukoencephalopathyRVCLRVCL-Svasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations

Show the remaining 40

HypertensionHPOHP:0000822
- Frequent (30% to 79% of cases)
MigraineHPOHP:0002076
- 28 of 53 reported patients
- Frequent (30% to 79% of cases)
NephropathyHPOHP:0000112
- Frequent (30% to 79% of cases)
Nodular regenerative hyperplasia of liverHPOHP:0011954
- Frequent (30% to 79% of cases)
Normochromic anemiaHPOHP:0001895
- Frequent (30% to 79% of cases)
Normocytic anemiaHPOHP:0001897
- Frequent (30% to 79% of cases)
ProteinuriaHPOHP:0000093
- Frequent (30% to 79% of cases)
DementiaHPOHP:0000726
- 33 of 70 reported patients
AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
ApathyHPOHP:0000741
- Occasional (5% to 29% of cases)
AphasiaHPOHP:0002381
- Occasional (5% to 29% of cases)
CardiomyopathyHPOHP:0001638
- Occasional (5% to 29% of cases)
Cerebral calcificationHPOHP:0002514
- Occasional (5% to 29% of cases)
DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
Focal hyperintensity of cerebral white matter on MRIHPOHP:0040328
- Occasional (5% to 29% of cases)
Focal hypointensity of cerebral white matter on MRIHPOHP:0040331
- Occasional (5% to 29% of cases)
Focal sensory seizure with somatosensory featuresHPOHP:0011163
- Occasional (5% to 29% of cases)
Gastrointestinal hemorrhageHPOHP:0002239
- 9 of 77 reported patients
- Occasional (5% to 29% of cases)
Generalized-onset seizureHPOHP:0002197
- Occasional (5% to 29% of cases)
GlaucomaHPOHP:0000501
- Occasional (5% to 29% of cases)
HemianopiaHPOHP:0012377
- Occasional (5% to 29% of cases)
HemiparesisHPOHP:0001269
- Occasional (5% to 29% of cases)
IrritabilityHPOHP:0000737
- Occasional (5% to 29% of cases)
Macular edemaHPOHP:0040049
- Occasional (5% to 29% of cases)
Memory impairmentHPOHP:0002354
- Occasional (5% to 29% of cases)
Migraine with auraHPOHP:0002077
- Occasional (5% to 29% of cases)
Migraine without auraHPOHP:0002083
- Occasional (5% to 29% of cases)
PneumoniaHPOHP:0002090
- Occasional (5% to 29% of cases)
Progressive neurologic deteriorationHPOHP:0002344
- Occasional (5% to 29% of cases)
PsychosisHPOHP:0000709
- Occasional (5% to 29% of cases)
Retinal cotton wool spotHPOHP:0031606
- Occasional (5% to 29% of cases)
Retinal neovascularizationHPOHP:0030666
- Occasional (5% to 29% of cases)
SepsisHPOHP:0100806
- Occasional (5% to 29% of cases)
TelangiectasiaHPOHP:0001009
- Occasional (5% to 29% of cases)
Visual field defectHPOHP:0001123
- Occasional (5% to 29% of cases)
Weakness of facial musculatureHPOHP:0030319
- Occasional (5% to 29% of cases)
Avascular necrosis of the capital femoral epiphysisHPOHP:0005743
- Very rare (1% to 4% of cases)
Punctate vasculitis skin lesionsHPOHP:0200030
- Very rare (1% to 4% of cases)
Skin rashHPOHP:0000988
- Very rare (1% to 4% of cases)
SeizureHPOHP:0001250
- 9 of 66 reported patients