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Any retinitis pigmentosa caused by duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1.
Features include: Bone spicule pigmentation of the retina, Nyctalopia, Color vision defect, and Photophobia and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 1 | Bone spicule pigmentation of the retina |
Eyes |
Biomarker and diagnostic research for retinitis pigmentosa 17 has been reported in the published literature.
No clinical trials have been registered for retinitis pigmentosa 17.
29 publications have been identified in PubMed for retinitis pigmentosa 17. Research spans Basic Science / Preclinical (41%), Case Report / Case Series (24%), and Epidemiology / Natural History (21%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 12 | 41% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:28 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
1
Color vision defect |
Age of onset: adulthood.
7 |
24% |
Disease patterns and progression | 6 | 21% |
Research summaries | 2 | 7% |
Other research | 1 | 3% |
Testing and diagnosis research | 1 | 3% |
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Abu Serhan H (2026). [PMID: 41721385](https://pubmed.ncbi.nlm.nih.gov/41721385/). *Int J Retina Vitreous*. [Review / Meta-Analysis]
Dargar T (2026). [PMID: 41751610](https://pubmed.ncbi.nlm.nih.gov/41751610/). *Genes (Basel)*. [Epidemiology / Natural History]
Boutaud L (2026). [PMID: 40841990](https://pubmed.ncbi.nlm.nih.gov/40841990/). *Clin Genet*. [Basic Science / Preclinical]
Teixeira-Martins R (2026). [PMID: 41788630](https://pubmed.ncbi.nlm.nih.gov/41788630/). *Case Rep Ophthalmol*. [Case Report / Case Series]
Wentling M (2026). [PMID: 41572507](https://pubmed.ncbi.nlm.nih.gov/41572507/). *Adv Sci (Weinh)*. [Basic Science / Preclinical]
Koizumi H (2026). [PMID: 41898848](https://pubmed.ncbi.nlm.nih.gov/41898848/). *Genes (Basel)*. [Case Report / Case Series]
Shan T (2026). [PMID: 42194986](https://pubmed.ncbi.nlm.nih.gov/42194986/). *Genes (Basel)*. [Basic Science / Preclinical]
Mantero G (2026). [PMID: 41776166](https://pubmed.ncbi.nlm.nih.gov/41776166/). *Cell Death Dis*. [Basic Science / Preclinical]
Goto Y (2025). [PMID: 39981531](https://pubmed.ncbi.nlm.nih.gov/39981531/). *Case Rep Ophthalmol*. [Case Report / Case Series]