Wagner disease
Findings
No curated finding names Wagner disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment.
Definition from the Mondo Disease Ontology (MONDO:0007740), read 2026-09-29. CC BY 4.0.
Features
13 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 full-field electroretinogramHPOHP:0030466
- Frequent (30% to 79% of cases)
- Chorioretinal atrophyHPOHP:0000533
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- NyctalopiaHPOHP:0000662
- Frequent (30% to 79% of cases)
- Optically empty vitreousHPOHP:0030663
- Frequent (30% to 79% of cases)
- Pigmentary retinopathyHPOHP:0000580
- Frequent (30% to 79% of cases)
- Presenile cataractsHPOHP:0007819
- Frequent (30% to 79% of cases)
- Reduced visual acuityHPOHP:0007663
- Frequent (30% to 79% of cases)
- Retinal detachmentHPOHP:0000541
- Frequent (30% to 79% of cases)
- Ectopic foveaHPOHP:0025007
- Occasional (5% to 29% of cases)
- GlaucomaHPOHP:0000501
- Occasional (5% to 29% of cases)
- Visual lossHPOHP:0000572
- Occasional (5% to 29% of cases)
Show the remaining 1
- Anterior uveitisHPOHP:0012122
- Very rare (1% to 4% 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.
- VCANHGNC:2464
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Wagner disease
- Also called
- dominant hyaloideoretinal dystrophy of WagnerVCAN-related vitreoretinopathyvitreoretinal degeneration, Wagner typeWagner syndrome