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An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision.
Biomarker and diagnostic research for cone dystrophy has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
5 clinical trials registered, 4 recruiting. Interventions under study include medical devices, other interventions, and biologic therapy. Pipeline includes 1 PHASE1, 1 NA. 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 19, 2026, 6:52 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Study of New Mutations in Cone Disorders
— |
University Hospital, Lille |
UNKNOWN |
[NCT07341763](https://clinicaltrials.gov/study/NCT07341763) | Brain Stimulation Effects on Orientation and Mobility Skills in Adults With Vision Impairment | NA | University of Waterloo | RECRUITING |
[NCT02435940](https://clinicaltrials.gov/study/NCT02435940) | Inherited Retinal Degenerative Disease Registry | — | Foundation Fighting Blindness | 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 |
[NCT05355415](https://clinicaltrials.gov/study/NCT05355415) | Adaptive Optics Imaging of Outer Retinal Diseases | — | Food and Drug Administration (FDA) | RECRUITING |
259 publications have been identified in PubMed for cone dystrophy. Kisho has analyzed 85 by research type. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (21%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 27 | 32% |
Laboratory research | 18 | 21% |
Disease patterns and progression | 15 | 18% |
Research summaries | 12 | 14% |
New treatment approaches | 8 | 9% |
Testing and diagnosis research | 4 | 5% |
Other research | 1 | 1% |
Sonehra (2026). [PMID: 42099125](https://pubmed.ncbi.nlm.nih.gov/42099125/). *Ophthalmic Genet*. [Epidemiology / Natural History]
de Guimarães TAC (2026). [PMID: 42071308](https://pubmed.ncbi.nlm.nih.gov/42071308/). *Ophthalmic Genet*. [Diagnostic / Biomarker]
Bousquet E (2026). [PMID: 39689289](https://pubmed.ncbi.nlm.nih.gov/39689289/). *Retin Cases Brief Rep*. [Case Report / Case Series]
Kong MD (2026). [PMID: 41557064](https://pubmed.ncbi.nlm.nih.gov/41557064/). *Doc Ophthalmol*. [Case Report / Case Series]
Zou R (2026). [PMID: 41805095](https://pubmed.ncbi.nlm.nih.gov/41805095/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]
Tovey Crutchfield EC (2026). [PMID: 40513990](https://pubmed.ncbi.nlm.nih.gov/40513990/). *Surv Ophthalmol*. [Review / Meta-Analysis]
Ting DS (2026). [PMID: 41991503](https://pubmed.ncbi.nlm.nih.gov/41991503/). *Ophthalmic Genet*. [Case Report / Case Series]
Varghese DE (2026). [PMID: 41846671](https://pubmed.ncbi.nlm.nih.gov/41846671/). *Cureus*. [Case Report / Case Series]
Massengill MT (2026). [PMID: 41595470](https://pubmed.ncbi.nlm.nih.gov/41595470/). *Genes (Basel)*. [Basic Science / Preclinical]
Mohankumar A (2026). [PMID: 36944008](https://pubmed.ncbi.nlm.nih.gov/36944008/). *Unknown Journal*. [Gene Therapy / Novel Therapeutics]
AI-curated news mentioning cone dystrophy
Updated Aug 3, 2026
A new phenotype of sector retinitis pigmentosa associated with cone dystrophy has been defined, enhancing understanding of RPGR-related retinal diseases. This discovery could inform future research and therapeutic strategies.
A study highlights progressive cone dystrophy linked to PDE6C-associated achromatopsia, identifying a likely pathogenic variant and a variant of uncertain significance. This research contributes to understanding the genetic underpinnings of visual disorders.