Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
Features include always present findings: Blindness. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 6 | Peripheral retinal neovascularization, Retinal detachment, Blindness |
Skin |
CAPN5 encodes calpain 5 (640 aa). Calcium-regulated non-lysosomal thiol-protease Highest expression in Colon Transverse (78.0 TPM) and Testis (53.4 TPM).
CAPN5-related vitreoretinopathy is caused by mutations in the CAPN5 gene on chromosome 11.
CAPN5 is classified as a druggable target (Cell Surface, Druggable Genome, Enzyme, and Protease categories) with score 0.6.
Genetic testing for CAPN5 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for CAPN5-related vitreoretinopathy has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
10 clinical trials registered, 3 recruiting. Interventions under study include drug therapy, procedural interventions, and other interventions. Pipeline includes 4 PHASE2, 2 PHASE1, 2 NA. Research is primarily sponsored by academic and government institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT06033703](https://clinicaltrials.gov/study/NCT06033703) |
Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about CAPN5-related vitreoretinopathy
1
Large hyperpigmented retinal spots |
Topical Netarsudil for the Prevention of Proliferative Vitreoretinopathy in Patients With Retinal Detachment |
PHASE1 |
Massachusetts Eye and Ear Infirmary |
RECRUITING |
[NCT05523869](https://clinicaltrials.gov/study/NCT05523869) | Intravitreal Topotecan in the Repair of Rhegmatogenous Retinal Detachment with Proliferative Vitreoretinopathy | PHASE2 | Unity Health Toronto | RECRUITING |
[NCT06541574](https://clinicaltrials.gov/study/NCT06541574) | Prevention of ProliFerative Vitreoretinopathy with Intravitreal MethotreXate in Primary Retinal DEtachment Repair (FIXER) Trial | PHASE2 | Cincinnati Eye Institute, Southwest Ohio | RECRUITING |
128 publications have been identified in PubMed for CAPN5-related vitreoretinopathy. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 37 | 29% |
Laboratory research | 32 | 25% |
Disease patterns and progression | 21 | 16% |
Clinical study results | 19 | 15% |
New treatment approaches | 7 | 5% |
Testing and diagnosis research | 6 | 5% |
Patient case studies | 4 | 3% |
Other research | 2 | 2% |
Wakabayashi T (2026). [PMID: 40553882](https://pubmed.ncbi.nlm.nih.gov/40553882/). *Ophthalmol Retina*. [Gene Therapy / Novel Therapeutics]
Hamadmad S (2026). [PMID: 41544460](https://pubmed.ncbi.nlm.nih.gov/41544460/). *Biomed Pharmacother*. [Clinical Trial Publication]
Felfeli T (2026). [PMID: 40811828](https://pubmed.ncbi.nlm.nih.gov/40811828/). *Retina*. [Epidemiology / Natural History]
Kocak I (2026). [PMID: 40967512](https://pubmed.ncbi.nlm.nih.gov/40967512/). *Surv Ophthalmol*. [Review / Meta-Analysis]
Nitzan I (2026). [PMID: 42061571](https://pubmed.ncbi.nlm.nih.gov/42061571/). *Ophthalmol Retina*. [Epidemiology / Natural History]
Erkan E (2026). [PMID: 41579159](https://pubmed.ncbi.nlm.nih.gov/41579159/). *Int Ophthalmol*. [Clinical Trial Publication]
Kawamata Y (2026). [PMID: 41960964](https://pubmed.ncbi.nlm.nih.gov/41960964/). *Invest Ophthalmol Vis Sci*. [Diagnostic / Biomarker]
Zheng F (2026). [PMID: 41802545](https://pubmed.ncbi.nlm.nih.gov/41802545/). *Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)*. [Review / Meta-Analysis]
Hammer M (2026). [PMID: 40999813](https://pubmed.ncbi.nlm.nih.gov/40999813/). *Adv Healthc Mater*. [Basic Science / Preclinical]
Huang Y (2026). [PMID: 41529022](https://pubmed.ncbi.nlm.nih.gov/41529022/). *PLoS One*. [Basic Science / Preclinical]