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Any retinopathy caused by variants in the PDE6A gene.
Biomarker and diagnostic research for PDE6A-related retinopathy has been reported in the published literature.
No clinical trials have been registered for PDE6A-related retinopathy.
7 publications have been identified in PubMed for PDE6A-related retinopathy. Research spans Review / Meta-Analysis (29%), Gene Therapy / Novel Therapeutics (29%), and Diagnostic / Biomarker (14%).
Reichel FF (2026). [PMID: 40825661](https://pubmed.ncbi.nlm.nih.gov/40825661/). *The British journal of ophthalmology*. [Clinical Trial Publication]
Petersen-Jones SM (2025). [PMID: 40461693](https://pubmed.ncbi.nlm.nih.gov/40461693/). *Eye (London, England)*. [Review / Meta-Analysis]
Zaslavsky K (2025). [PMID: 41342616](https://pubmed.ncbi.nlm.nih.gov/41342616/). *Investigative ophthalmology & visual science*. [Diagnostic / Biomarker]
Seitz IP (2025). [PMID: 39878701](https://pubmed.ncbi.nlm.nih.gov/39878701/). *Translational vision science & technology*. [Gene Therapy / Novel Therapeutics]
Yang M (2024). [PMID: 39333705](https://pubmed.ncbi.nlm.nih.gov/39333705/). *Scientific reports*. [Basic Science / Preclinical]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC
Common questions about PDE6A-related retinopathy
Liu Z (2024). [PMID: 39297417](https://pubmed.ncbi.nlm.nih.gov/39297417/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Gene Therapy / Novel Therapeutics]
Liu Y (2024). [PMID: 39199291](https://pubmed.ncbi.nlm.nih.gov/39199291/). *Biomolecules*. [Review / Meta-Analysis]