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Inherited retinal dystrophies that belong to the group of pigmentary retinopathies.
Biomarker and diagnostic research for cone-rod dystrophy has been reported in the published literature.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
8 clinical trials registered, 6 recruiting. Interventions under study include other interventions, medical devices, drug therapy, and biologic therapy. Pipeline includes 1 PHASE2, 2 PHASE1. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT04658251](https://clinicaltrials.gov/study/NCT04658251) |
Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 7:19 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Study of New Mutations in Cone Disorders |
— |
University Hospital, Lille |
UNKNOWN |
[NCT02435940](https://clinicaltrials.gov/study/NCT02435940) | Inherited Retinal Degenerative Disease Registry | — | Foundation Fighting Blindness | RECRUITING |
[NCT05355415](https://clinicaltrials.gov/study/NCT05355415) | Adaptive Optics Imaging of Outer Retinal Diseases | — | Food and Drug Administration (FDA) | RECRUITING |
[NCT06445322](https://clinicaltrials.gov/study/NCT06445322) | Prescreening Study to Identify Potential Stargardt Participants for ACDN-01 Clinical Trials (STARPATH) | — | Ascidian Therapeutics, Inc | RECRUITING |
[NCT06789445](https://clinicaltrials.gov/study/NCT06789445) | A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO) | PHASE1 | BlueRock Therapeutics | RECRUITING |
132 publications have been identified in PubMed for cone-rod dystrophy. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (30%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 42 | 32% |
Laboratory research | 39 | 30% |
Disease patterns and progression | 26 | 20% |
Research summaries | 13 | 10% |
Other research | 4 | 3% |
Testing and diagnosis research | 4 | 3% |
Clinical study results | 2 | 2% |
New treatment approaches | 2 | 2% |
Kwok JC (2026). [PMID: 39428496](https://pubmed.ncbi.nlm.nih.gov/39428496/). *Vet Ophthalmol*. [Basic Science / Preclinical]
Pagán-Melvin C (2026). [PMID: 41841063](https://pubmed.ncbi.nlm.nih.gov/41841063/). *Cureus*. [Case Report / Case Series]
Cao LY (2026). [PMID: 41912321](https://pubmed.ncbi.nlm.nih.gov/41912321/). *Ophthalmic Genet*. [Case Report / Case Series]
Zhou Y (2026). [PMID: 41933583](https://pubmed.ncbi.nlm.nih.gov/41933583/). *Ophthalmol Retina*. [Epidemiology / Natural History]
Gregory-Evans CY (2026). [PMID: 41539649](https://pubmed.ncbi.nlm.nih.gov/41539649/). *Can J Ophthalmol*. [Epidemiology / Natural History]
Hirakata T (2026). [PMID: 41728201](https://pubmed.ncbi.nlm.nih.gov/41728201/). *Front Ophthalmol (Lausanne)*. [Epidemiology / Natural History]
Mahler EA (2026). [PMID: 41238926](https://pubmed.ncbi.nlm.nih.gov/41238926/). *Ophthalmologie*. [Other]
Park J (2026). [PMID: 42231409](https://pubmed.ncbi.nlm.nih.gov/42231409/). *BMC Med Genomics*. [Case Report / Case Series]
Yang X (2026). [PMID: 41064051](https://pubmed.ncbi.nlm.nih.gov/41064051/). *Mol Syndromol*. [Case Report / Case Series]
Massengill MT (2026). [PMID: 41595470](https://pubmed.ncbi.nlm.nih.gov/41595470/). *Genes (Basel)*. [Basic Science / Preclinical]
AI-curated news mentioning cone-rod dystrophy
Updated Jun 1, 2026
Researchers identified a novel mutation in the CEP78 gene associated with cone-rod dystrophy and hearing loss. This discovery enhances understanding of the genetic basis for these conditions and may inform future therapeutic strategies.