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Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene.
Features include always present findings: Bone spicule pigmentation of the retina, Nyctalopia, Perifoveal hypoautofluorescence, and Photophobia and others; and very common findings: Constriction of peripheral visual field and Color vision defect. 10 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 1 | Bone spicule pigmentation of the retina |
RPGR function has not been fully characterized.
Retinitis pigmentosa 3 is associated with mutations in the RPGR gene on chromosome X.
Genetic testing for RPGR is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for retinitis pigmentosa 3 has been reported in the published literature.
Phenotype severity distribution: 5 always present features, 2 very common features, 1 common feature.
No clinical trials have been registered for retinitis pigmentosa 3.
13 publications have been identified in PubMed for retinitis pigmentosa 3. Research spans Basic Science / Preclinical (23%), Epidemiology / Natural History (23%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 3 | 23% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Eyes |
1 |
Color vision defect |
3 |
23% |
Research summaries | 2 | 15% |
New treatment approaches | 2 | 15% |
Testing and diagnosis research | 1 | 8% |
Patient case studies | 1 | 8% |
Clinical study results | 1 | 8% |
Yang J (2026). [PMID: 41773775](https://pubmed.ncbi.nlm.nih.gov/41773775/). *Translational vision science & technology*. [Epidemiology / Natural History]
Fabard M (2026). [PMID: 41686256](https://pubmed.ncbi.nlm.nih.gov/41686256/). *Human genetics*. [Case Report / Case Series]
Gregory-Evans CY (2026). [PMID: 41539649](https://pubmed.ncbi.nlm.nih.gov/41539649/). *Canadian journal of ophthalmology. Journal canadien d'ophtalmologie*. [Epidemiology / Natural History]
Long Y (2026). [PMID: 41480687](https://pubmed.ncbi.nlm.nih.gov/41480687/). *International journal of molecular medicine*. [Review / Meta-Analysis]
Gouveia N (2026). [PMID: 41049110](https://pubmed.ncbi.nlm.nih.gov/41049110/). *Ophthalmology science*. [Diagnostic / Biomarker]
Chen X (2026). [PMID: 42263801](https://pubmed.ncbi.nlm.nih.gov/42263801/). *Am J Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Parmeggiani F (2025). [PMID: 39774292](https://pubmed.ncbi.nlm.nih.gov/39774292/). *Eye (London, England)*. [Basic Science / Preclinical]
Gesualdo C (2025). [PMID: 40597960](https://pubmed.ncbi.nlm.nih.gov/40597960/). *BMC ophthalmology*. [Clinical Trial Publication]
Farooqui SZ (2025). [PMID: 40858513](https://pubmed.ncbi.nlm.nih.gov/40858513/). *Ophthalmic genetics*. [Epidemiology / Natural History]
Saßmannshausen M (2025). [PMID: 40104205](https://pubmed.ncbi.nlm.nih.gov/40104205/). *American journal of ophthalmology case reports*. [Review / Meta-Analysis]
AI-curated news mentioning retinitis pigmentosa 3
Updated Jul 31, 2026
A study identifies a rare dual Mendelian molecular diagnosis involving PAX6-associated aniridia and RPGR-related X-linked retinitis pigmentosa. This research enhances understanding of genetic factors in these conditions.
A new cost of illness model estimates the annual societal costs of X-linked retinitis pigmentosa (XLRP) in the UK, providing valuable insights for healthcare planning and resource allocation. This research highlights the economic burden of XLRP, which can inform policy decisions and funding priorities.