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Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene.
Features include sometimes findings: Macular edema, Cataract, and Macular atrophy. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Macular edema, Cataract, Macular atrophy |
Bones and joints |
RP9 function has not been fully characterized.
Retinitis pigmentosa 9 has limited evidence linking it to mutations in the RP9 gene on chromosome 7.
Genetic testing for RP9 is available. Testing is considered research-grade for diagnosis.
Biomarker and diagnostic research for retinitis pigmentosa 9 has been reported in the published literature.
No clinical trials have been registered for retinitis pigmentosa 9.
35 publications have been identified in PubMed for retinitis pigmentosa 9. Research spans Basic Science / Preclinical (26%), Epidemiology / Natural History (26%), and Case Report / Case Series (23%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 9 | 26% |
Data assembled from 6 of 12 sources · Last updated Oct 3, 2026, 11:01 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1
Bone spicule pigmentation of the retina |
Muscles | 1 | Macular atrophy |
9 |
26% |
Patient case studies | 8 | 23% |
Clinical study results | 3 | 9% |
Testing and diagnosis research | 2 | 6% |
Research summaries | 2 | 6% |
New treatment approaches | 2 | 6% |
Reichel FF (2026). [PMID: 40825661](https://pubmed.ncbi.nlm.nih.gov/40825661/). *Br J Ophthalmol*. [Clinical Trial Publication]
Abu Serhan H (2026). [PMID: 41721385](https://pubmed.ncbi.nlm.nih.gov/41721385/). *Int J Retina Vitreous*. [Review / Meta-Analysis]
Wu G (2026). [PMID: 41626883](https://pubmed.ncbi.nlm.nih.gov/41626883/). *Transl Vis Sci Technol*. [Case Report / Case Series]
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Wijn DH (2026). [PMID: 41729786](https://pubmed.ncbi.nlm.nih.gov/41729786/). *Otol Neurotol*. [Epidemiology / Natural History]
Wang A (2026). [PMID: 41776480](https://pubmed.ncbi.nlm.nih.gov/41776480/). *BMC Ophthalmol*. [Case Report / Case Series]
Kolesnikov AV (2026). [PMID: 42137266](https://pubmed.ncbi.nlm.nih.gov/42137266/). *Mol Ther Adv*. [Basic Science / Preclinical]
Chang L (2026). [PMID: 41131384](https://pubmed.ncbi.nlm.nih.gov/41131384/). *Eur J Hum Genet*. [Basic Science / Preclinical]
Beaulieu C (2026). [PMID: 41954904](https://pubmed.ncbi.nlm.nih.gov/41954904/). *JAMA Ophthalmol*. [Basic Science / Preclinical]
Krumpoeck PE (2026). [PMID: 42020935](https://pubmed.ncbi.nlm.nih.gov/42020935/). *Ear Hear*. [Epidemiology / Natural History]