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Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Cone-Rod Dystrophy: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Epidemiology of macular dystrophy in Japan (2011-2020): a nationwide population-based study.
Ikeda Hanako Ohashi et al., Japanese journal of ophthalmology (3 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42690510/
- 2.
Correcting photoreceptor diseases at their source: CRISPR strategies for cone-rod dystrophy and achromatopsia.
Zaki Haniya Fatima et al., Experimental eye research (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42264060/
- 3.
Compound Heterozygous PCDH15 Variants Associated With Cone-Rod Dystrophy in a Chinese Pedigree.
Zhang Lei et al., Molecular genetics & genomic medicine (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42723338/
- 4.
Three novel variants in the
Reith Milda et al., Ophthalmic genetics (27 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42509535/
- 5.
Retinal network dysfunction precedes structural degeneration in severe GUCA1A cone-rod dystrophy
Anna Avesani et al., bioRxiv (Cold Spring Harbor Laboratory) (29 June 2026)
https://doi.org/10.64898/2026.06.23.734025
Clinical Trials : Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Virtual Reality Mobility Assessment of Functional Vision in Retinal Disease
NCT04289571 · Recruiting · Phase 1 · National Eye Institute (NEI)
Ages 5 to 120
https://clinicaltrials.gov/study/NCT04289571
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Cone-Rod Dystrophy
Cone-rod dystrophy is a group of inherited eye conditions that damage the light-sensing cells of the retina. The cones, which give sharp central and colour vision, are affected first, and the rods, which give night and side vision, later. Many different genes can cause it. Care focuses on low vision support, and gene-based therapies are being studied.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
PURPOSE: To describe the characteristics and prevalence of macular dystrophy using a comprehensive national claims database in Japan. STUDY DESIGN: Population-based retrospective study using a nationwide claims database. METHODS: Approximately 126 million individuals covered by Japan's universal health coverage system were included. Health insurance claims from 2011 to 2020 stored in the National Database of Health Insurance Claims (NDB) of Japan were analyzed. Patients with macular dystrophy, including best vitelliform macular dystrophy (BVMD), Stargardt disease (STGD), cone/cone-rod dystrophy, or central areolar choroidal dystrophy (CACD), were identified using diagnostic codes recorded in the database. The population-based prevalence of diagnosed macular dystrophy was calculated, and age-standardized rates were derived using the WHO standard world population. RESULTS: Between 2011 and 2020, 1,268 patients with BVMD, 460 with STGD, 5758 with cone/cone-rod dystrophy, and 280 with CACD were identified in the NDB. As of October 1, 2020, the corresponding prevalence rates were 10.05, 3.65, 45.65, and 2.35 per 1,000,000 persons, respectively. CONCLUSION: This nationwide study provides updated epidemiological estimates of macular dystrophy in Japan. These findings may inform clinical management, healthcare planning, and future research on macular dystrophy.
Common Questions
What is Cone-Rod Dystrophy?
Cone-rod dystrophy is a group of inherited eye conditions that damage the light-sensing cells of the retina. The cones, which give sharp central and colour vision, are affected first, and the rods, which give night and side vision, later. Many different genes can cause it. Care focuses on low vision support, and gene-based therapies are being studied.
How many clinical trials are available for Cone-Rod Dystrophy?
RareWays currently indexes 6 clinical trials for Cone-Rod Dystrophy, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Cone-Rod Dystrophy come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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