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A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina.
Biomarker and diagnostic research for RDH5-related retinopathy has been reported in the published literature.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
17 publications have been identified in PubMed for RDH5-related retinopathy. Research spans Case Report / Case Series (41%), Epidemiology / Natural History (24%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 41% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC
Common questions about RDH5-related retinopathy
Disease patterns and progression |
4 |
24% |
Laboratory research | 3 | 18% |
Research summaries | 2 | 12% |
Testing and diagnosis research | 1 | 6% |
Baldaquí-Baeza A (2026). [PMID: 42065837](https://pubmed.ncbi.nlm.nih.gov/42065837/). *Doc Ophthalmol*. [Case Report / Case Series]
Hayakawa T (2026). [PMID: 41902999](https://pubmed.ncbi.nlm.nih.gov/41902999/). *Jpn J Ophthalmol*. [Epidemiology / Natural History]
AlMoallem B (2026). [PMID: 42074478](https://pubmed.ncbi.nlm.nih.gov/42074478/). *Genes (Basel)*. [Case Report / Case Series]
Naderi A (2026). [PMID: 39929173](https://pubmed.ncbi.nlm.nih.gov/39929173/). *Retin Cases Brief Rep*. [Case Report / Case Series]
Stephenson KAJ (2026). [PMID: 41459630](https://pubmed.ncbi.nlm.nih.gov/41459630/). *Clin Genet*. [Case Report / Case Series]
Dong Y (2026). [PMID: 41679585](https://pubmed.ncbi.nlm.nih.gov/41679585/). *Exp Eye Res*. [Basic Science / Preclinical]
Das A (2025). [PMID: 41264291](https://pubmed.ncbi.nlm.nih.gov/41264291/). *JAMA Ophthalmol*. [Diagnostic / Biomarker]
Sundaramurthy S (2025). [PMID: 40551348](https://pubmed.ncbi.nlm.nih.gov/40551348/). *Acta Ophthalmol*. [Epidemiology / Natural History]
Yu X (2025). [PMID: 41463332](https://pubmed.ncbi.nlm.nih.gov/41463332/). *Biomolecules*. [Review / Meta-Analysis]
Wolfram L (2025). [PMID: 41251530](https://pubmed.ncbi.nlm.nih.gov/41251530/). *Transl Vis Sci Technol*. [Case Report / Case Series]