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Features include always present findings: Nyctalopia, Macular degeneration, Reduced visual acuity, and Rod-cone dystrophy; and sometimes findings: Iris atrophy and Amblyopia.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Macular degeneration, Amblyopia |
VWA8 function has not been fully characterized.
Retinitis pigmentosa 97 is associated with mutations in the VWA8 gene on chromosome 13.
Genetic testing for VWA8 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for retinitis pigmentosa 97 has been reported in the published literature.
Phenotype severity distribution: 4 always present features.
No clinical trials have been registered for retinitis pigmentosa 97.
13 publications have been identified in PubMed for retinitis pigmentosa 97. Research spans Epidemiology / Natural History (38%), Basic Science / Preclinical (23%), and Diagnostic / Biomarker (15%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 5 | 38% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
Online Mendelian Inheritance in Man
1 |
Iris atrophy |
Laboratory research
3 |
23% |
Testing and diagnosis research | 2 | 15% |
Research summaries | 2 | 15% |
Patient case studies | 1 | 8% |
Mohammed TK (2026). [PMID: 42181665](https://pubmed.ncbi.nlm.nih.gov/42181665/). *Ophthalmol Sci*. [Basic Science / Preclinical]
Abu Serhan H (2026). [PMID: 41721385](https://pubmed.ncbi.nlm.nih.gov/41721385/). *Int J Retina Vitreous*. [Review / Meta-Analysis]
Kadyshev VV (2026). [PMID: 41847811](https://pubmed.ncbi.nlm.nih.gov/41847811/). *Vestn Oftalmol*. [Epidemiology / Natural History]
Fan KC (2025). [PMID: 40163632](https://pubmed.ncbi.nlm.nih.gov/40163632/). *Ophthalmic Surg Lasers Imaging Retina*. [Basic Science / Preclinical]
Ndife TI (2025). [PMID: 40745881](https://pubmed.ncbi.nlm.nih.gov/40745881/). *Niger Postgrad Med J*. [Case Report / Case Series]
Demir Ş (2025). [PMID: 40371729](https://pubmed.ncbi.nlm.nih.gov/40371729/). *Clin Genet*. [Epidemiology / Natural History]
Kong MD (2025). [PMID: 40578471](https://pubmed.ncbi.nlm.nih.gov/40578471/). *Am J Ophthalmol*. [Diagnostic / Biomarker]
Wei Q (2025). [PMID: 40051895](https://pubmed.ncbi.nlm.nih.gov/40051895/). *Int J Gen Med*. [Diagnostic / Biomarker]
Tao BK (2025). [PMID: 40111380](https://pubmed.ncbi.nlm.nih.gov/40111380/). *J Glaucoma*. [Review / Meta-Analysis]
Foa N (2025). [PMID: 40168954](https://pubmed.ncbi.nlm.nih.gov/40168954/). *Ophthalmologica*. [Epidemiology / Natural History]