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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.
Features include sometimes findings: Exudative vitreoretinopathy. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 6 | Optically empty vitreous, Cataract, Damage to the optic nerve (optic atrophy) |
Muscles |
VCAN function has not been fully characterized.
Wagner disease is caused by mutations in the VCAN gene on chromosome 5.
Genetic testing for VCAN is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Wagner disease has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Wagner disease.
11 publications have been identified in PubMed for Wagner disease. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (27%), and Diagnostic / Biomarker (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 5 | 45% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:53 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Wagner disease
3
Damage to the optic nerve (optic atrophy), Retinal pigment epithelial atrophy, Chorioretinal atrophy |
3 |
27% |
Testing and diagnosis research | 1 | 9% |
Research summaries | 1 | 9% |
Disease patterns and progression | 1 | 9% |
Rohowetz LJ (2025). [PMID: 40747364](https://pubmed.ncbi.nlm.nih.gov/40747364/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
Zhou L (2025). [PMID: 40270540](https://pubmed.ncbi.nlm.nih.gov/40270540/). *Frontiers in genetics*. [Basic Science / Preclinical]
Oncel D (2025). [PMID: 39752596](https://pubmed.ncbi.nlm.nih.gov/39752596/). *Retina (Philadelphia, Pa.)*. [Case Report / Case Series]
Shu QM (2025). [PMID: 40200375](https://pubmed.ncbi.nlm.nih.gov/40200375/). *Human genomics*. [Diagnostic / Biomarker]
Zhong A (2025). [PMID: 40140649](https://pubmed.ncbi.nlm.nih.gov/40140649/). *Ophthalmic genetics*. [Epidemiology / Natural History]
Quarta A (2025). [PMID: 39403037](https://pubmed.ncbi.nlm.nih.gov/39403037/). *European journal of ophthalmology*. [Case Report / Case Series]
Dillinger AE (2025). [PMID: 39930232](https://pubmed.ncbi.nlm.nih.gov/39930232/). *Advances in experimental medicine and biology*. [Case Report / Case Series]
Ghoraba HH (2025). [PMID: 39837650](https://pubmed.ncbi.nlm.nih.gov/39837650/). *Clinical & experimental ophthalmology*. [Review / Meta-Analysis]
Lin G (2024). [PMID: 39037979](https://pubmed.ncbi.nlm.nih.gov/39037979/). *PloS one*. [Basic Science / Preclinical]
Borella Y (2024). [PMID: 38680526](https://pubmed.ncbi.nlm.nih.gov/38680526/). *American journal of ophthalmology case reports*. [Basic Science / Preclinical]