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Features include: Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Nyctalopia, and Color vision defect and 6 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 6 | Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Color vision defect |
RPGR function has not been fully characterized.
X-linked cone-rod dystrophy 1 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 X-linked cone-rod dystrophy 1 has been reported in the published literature.
No clinical trials have been registered for X-linked cone-rod dystrophy 1.
17 publications have been identified in PubMed for X-linked cone-rod dystrophy 1. Research spans Epidemiology / Natural History (35%), Basic Science / Preclinical (18%), and Gene Therapy / Novel Therapeutics (18%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 6 | 35% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:59 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about X-linked cone-rod dystrophy 1
1 |
Retinal pigment epithelial atrophy |
Laboratory research
3 |
18% |
New treatment approaches | 3 | 18% |
Patient case studies | 2 | 12% |
Testing and diagnosis research | 1 | 6% |
Research summaries | 1 | 6% |
Clinical study results | 1 | 6% |
Appelbaum T (2026). [PMID: 41649227](https://pubmed.ncbi.nlm.nih.gov/41649227/). *Investigative ophthalmology & visual science*. [Basic Science / Preclinical]
Raji S (2026). [PMID: 41481301](https://pubmed.ncbi.nlm.nih.gov/41481301/). *JAMA ophthalmology*. [Diagnostic / Biomarker]
Fabard M (2026). [PMID: 41686256](https://pubmed.ncbi.nlm.nih.gov/41686256/). *Human genetics*. [Gene Therapy / Novel Therapeutics]
Roig-Ferreruela G (2026). [PMID: 42081051](https://pubmed.ncbi.nlm.nih.gov/42081051/). *J Ophthalmic Inflamm Infect*. [Case Report / Case Series]
Taha I (2026). [PMID: 42106701](https://pubmed.ncbi.nlm.nih.gov/42106701/). *BMC Ophthalmol*. [Review / Meta-Analysis]
Uner OE (2025). [PMID: 39763288](https://pubmed.ncbi.nlm.nih.gov/39763288/). *Ophthalmic genetics*. [Epidemiology / Natural History]
Delaney A (2025). [PMID: 40510754](https://pubmed.ncbi.nlm.nih.gov/40510754/). *Case reports in ophthalmology*. [Case Report / Case Series]
Chiang BK (2025). [PMID: 40736814](https://pubmed.ncbi.nlm.nih.gov/40736814/). *Advances in experimental medicine and biology*. [Epidemiology / Natural History]
Hartung KJ (2025). [PMID: 40736816](https://pubmed.ncbi.nlm.nih.gov/40736816/). *Advances in experimental medicine and biology*. [Basic Science / Preclinical]
Lähteenoja L (2025). [PMID: 40571344](https://pubmed.ncbi.nlm.nih.gov/40571344/). *The British journal of ophthalmology*. [Epidemiology / Natural History]