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Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene.
Features include: Nyctalopia, Retinal arteriolar constriction, Rod-cone dystrophy, and Scotoma and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Retinal arteriolar constriction |
PRPF3 function has not been fully characterized.
Retinitis pigmentosa 18 is caused by mutations in the PRPF3 gene on chromosome 1.
Genetic testing for PRPF3 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for retinitis pigmentosa 18 has been reported in the published literature.
No clinical trials have been registered for retinitis pigmentosa 18.
29 publications have been identified in PubMed for retinitis pigmentosa 18. Research spans Epidemiology / Natural History (28%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 8 | 28% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:31 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Laboratory research
7 |
24% |
Research summaries | 4 | 14% |
Patient case studies | 4 | 14% |
New treatment approaches | 3 | 10% |
Testing and diagnosis research | 2 | 7% |
Clinical study results | 1 | 3% |
Quinodoz M (2026). [PMID: 41513982](https://pubmed.ncbi.nlm.nih.gov/41513982/). *Nat Genet*. [Basic Science / Preclinical]
Koizumi H (2026). [PMID: 41898848](https://pubmed.ncbi.nlm.nih.gov/41898848/). *Genes (Basel)*. [Case Report / Case Series]
Ali H (2026). [PMID: 42147645](https://pubmed.ncbi.nlm.nih.gov/42147645/). *Cureus*. [Case Report / Case Series]
Wang A (2026). [PMID: 41776480](https://pubmed.ncbi.nlm.nih.gov/41776480/). *BMC Ophthalmol*. [Case Report / Case Series]
Dolgin V (2026). [PMID: 42211691](https://pubmed.ncbi.nlm.nih.gov/42211691/). *Mol Ther Nucleic Acids*. [Gene Therapy / Novel Therapeutics]
Sullivan PW (2026). [PMID: 41364873](https://pubmed.ncbi.nlm.nih.gov/41364873/). *Retina*. [Epidemiology / Natural History]
Testa F (2025). [PMID: 40900079](https://pubmed.ncbi.nlm.nih.gov/40900079/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Ferch M (2025). [PMID: 40302276](https://pubmed.ncbi.nlm.nih.gov/40302276/). *J Clin Endocrinol Metab*. [Case Report / Case Series]
Antropoli A (2025). [PMID: 38602021](https://pubmed.ncbi.nlm.nih.gov/38602021/). *Eur J Ophthalmol*. [Epidemiology / Natural History]
Quinodoz M (2025). [PMID: 39830270](https://pubmed.ncbi.nlm.nih.gov/39830270/). *medRxiv*. [Basic Science / Preclinical]