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A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.
Features include always present findings: Chorioretinal degeneration. 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Pigmentary retinopathy |
Lungs and breathing |
Biomarker and diagnostic research for retinitis pigmentosa 6 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for retinitis pigmentosa 6.
73 publications have been identified in PubMed for retinitis pigmentosa 6. Research spans Basic Science / Preclinical (43%), Epidemiology / Natural History (15%), and Case Report / Case Series (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 31 | 43% |
Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 5:09 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Recurrent respiratory infections |
Blood and immune system | 1 | Recurrent respiratory infections |
11 |
15% |
Patient case studies | 10 | 14% |
New treatment approaches | 8 | 11% |
Research summaries | 7 | 10% |
Testing and diagnosis research | 2 | 3% |
Clinical study results | 2 | 3% |
Other research | 1 | 1% |
Abu Serhan H (2026). [PMID: 41721385](https://pubmed.ncbi.nlm.nih.gov/41721385/). *Int J Retina Vitreous*. [Review / Meta-Analysis]
Yang Y (2026). [PMID: 41017685](https://pubmed.ncbi.nlm.nih.gov/41017685/). *Neural Regen Res*. [Basic Science / Preclinical]
Krumpoeck PE (2026). [PMID: 42020935](https://pubmed.ncbi.nlm.nih.gov/42020935/). *Ear Hear*. [Epidemiology / Natural History]
Wu F (2026). [PMID: 42127191](https://pubmed.ncbi.nlm.nih.gov/42127191/). *Sci Adv*. [Gene Therapy / Novel Therapeutics]
Stacks DA (2026). [PMID: 41292168](https://pubmed.ncbi.nlm.nih.gov/41292168/). *J Physiol*. [Basic Science / Preclinical]
Chou JJ (2026). [PMID: 41954843](https://pubmed.ncbi.nlm.nih.gov/41954843/). *Doc Ophthalmol*. [Case Report / Case Series]
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Bervoets S (2026). [PMID: 41528484](https://pubmed.ncbi.nlm.nih.gov/41528484/). *Cell Mol Life Sci*. [Basic Science / Preclinical]
Chandler LC (2026). [PMID: 41380951](https://pubmed.ncbi.nlm.nih.gov/41380951/). *Exp Eye Res*. [Basic Science / Preclinical]
Reichel FF (2026). [PMID: 40825661](https://pubmed.ncbi.nlm.nih.gov/40825661/). *Br J Ophthalmol*. [Clinical Trial Publication]