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Features include always present findings: Constriction of peripheral visual field, Reduced visual acuity, and Attenuation of retinal blood vessels; and very common findings: Optic disc pallor. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Optic disc pallor, Attenuation of retinal blood vessels |
RAX2 function has not been fully characterized.
Retinitis pigmentosa 95 is associated with mutations in the RAX2 gene on chromosome 19.
Genetic testing for RAX2 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for retinitis pigmentosa 95 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 1 very common feature, 2 common features.
No clinical trials have been registered for retinitis pigmentosa 95.
63 publications have been identified in PubMed for retinitis pigmentosa 95. Research spans Epidemiology / Natural History (38%), Diagnostic / Biomarker (19%), and Basic Science / Preclinical (19%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 24 | 38% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:10 PM UTC
Online Mendelian Inheritance in Man
Bones and joints
1 |
Bone spicule pigmentation of the retina |
Testing and diagnosis research
12 |
19% |
Laboratory research | 12 | 19% |
Research summaries | 5 | 8% |
Clinical study results | 5 | 8% |
Patient case studies | 3 | 5% |
New treatment approaches | 2 | 3% |
Huchzermeyer C (2026). [PMID: 41718256](https://pubmed.ncbi.nlm.nih.gov/41718256/). *Vision (Basel)*. [Diagnostic / Biomarker]
Parekh BJ (2026). [PMID: 41760091](https://pubmed.ncbi.nlm.nih.gov/41760091/). *Clin Exp Ophthalmol*. [Basic Science / Preclinical]
Marsh K (2026). [PMID: 41697461](https://pubmed.ncbi.nlm.nih.gov/41697461/). *Pharmacoecon Open*. [Epidemiology / Natural History]
de Guimarães TAC (2026). [PMID: 42071308](https://pubmed.ncbi.nlm.nih.gov/42071308/). *Ophthalmic Genet*. [Diagnostic / Biomarker]
de Guimaraes TAC (2026). [PMID: 41709431](https://pubmed.ncbi.nlm.nih.gov/41709431/). *Ophthalmic Genet*. [Epidemiology / Natural History]
Most JA (2026). [PMID: 40743462](https://pubmed.ncbi.nlm.nih.gov/40743462/). *Retina*. [Gene Therapy / Novel Therapeutics]
Karuntu JS (2026). [PMID: 40530429](https://pubmed.ncbi.nlm.nih.gov/40530429/). *Acta Ophthalmol*. [Diagnostic / Biomarker]
Alvarez G (2026). [PMID: 41549937](https://pubmed.ncbi.nlm.nih.gov/41549937/). *Am J Med Genet A*. [Case Report / Case Series]
Josan AS (2026). [PMID: 41237986](https://pubmed.ncbi.nlm.nih.gov/41237986/). *Am J Ophthalmol*. [Diagnostic / Biomarker]
Taha I (2026). [PMID: 41851861](https://pubmed.ncbi.nlm.nih.gov/41851861/). *BMC Ophthalmol*. [Epidemiology / Natural History]