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Features include common findings: Reduced visual acuity, Ocular hypertension, and Vitreous floaters; and sometimes findings: Glaucoma, Retinal detachment, Photophobia, and Blurred vision and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 8 | Ocular hypertension, Glaucoma, Retinal detachment |
Biomarker and diagnostic research for IRVAN syndrome has been reported in the published literature.
Phenotype severity distribution: 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for IRVAN syndrome.
166 publications have been identified in PubMed for IRVAN syndrome. Research spans Review / Meta-Analysis (37%), Case Report / Case Series (27%), and Clinical Trial Publication (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 54 | 37% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:15 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about IRVAN syndrome
Heart and blood vessels
1 |
Ocular hypertension |
Muscles | 1 | Damage to the optic nerve (optic atrophy) |
39 |
27% |
Clinical study results | 14 | 10% |
Disease patterns and progression | 14 | 10% |
Laboratory research | 13 | 9% |
Testing and diagnosis research | 7 | 5% |
New treatment approaches | 3 | 2% |
Other research | 2 | 1% |
Olivé-Cirera G (2026). [PMID: 41499722](https://pubmed.ncbi.nlm.nih.gov/41499722/). *Neurol Neuroimmunol Neuroinflamm*. [Case Report / Case Series]
Breuer E (2026). [PMID: 41589711](https://pubmed.ncbi.nlm.nih.gov/41589711/). *Curr Opin Neurol*. [Review / Meta-Analysis]
Qadan AB (2026). [PMID: 41776439](https://pubmed.ncbi.nlm.nih.gov/41776439/). *BMC ophthalmology*. [Case Report / Case Series]
Markowitz DM (2026). [PMID: 41732750](https://pubmed.ncbi.nlm.nih.gov/41732750/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
Cohen S (2026). [PMID: 41840042](https://pubmed.ncbi.nlm.nih.gov/41840042/). *Eye (London, England)*. [Case Report / Case Series]
Yang LY (2026). [PMID: 41110675](https://pubmed.ncbi.nlm.nih.gov/41110675/). *American journal of ophthalmology*. [Clinical Trial Publication]
Chahal R (2026). [PMID: 41657422](https://pubmed.ncbi.nlm.nih.gov/41657422/). *Frontiers in neurology*. [Case Report / Case Series]
Shah SS (2026). [PMID: 34662020](https://pubmed.ncbi.nlm.nih.gov/34662020/). *Unknown Journal*. [Gene Therapy / Novel Therapeutics]
Ganguli A (2026). [PMID: 42112140](https://pubmed.ncbi.nlm.nih.gov/42112140/). *Kidney Med*. [Case Report / Case Series]
Feo A (2026). [PMID: 41490810](https://pubmed.ncbi.nlm.nih.gov/41490810/). *American journal of ophthalmology*. [Review / Meta-Analysis]