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Any retinopathy caused by a variant or variants in the PRPH2 gene.
Biomarker and diagnostic research for PRPH2-related retinopathy has been reported in the published literature.
No clinical trials have been registered for PRPH2-related retinopathy.
7 publications have been identified in PubMed for PRPH2-related retinopathy. Research spans Diagnostic / Biomarker (29%), Case Report / Case Series (29%), and Review / Meta-Analysis (14%).
Merle DA (2025). [PMID: 40767444](https://pubmed.ncbi.nlm.nih.gov/40767444/). *Invest Ophthalmol Vis Sci*. [Diagnostic / Biomarker]
Fan KC (2025). [PMID: 39586833](https://pubmed.ncbi.nlm.nih.gov/39586833/). *Ophthalmic Genet*. [Diagnostic / Biomarker]
Seddon JM (2024). [PMID: 39693084](https://pubmed.ncbi.nlm.nih.gov/39693084/). *Invest Ophthalmol Vis Sci*. [Epidemiology / Natural History]
Ayyagari R (2024). [PMID: 39382871](https://pubmed.ncbi.nlm.nih.gov/39382871/). *Transl Vis Sci Technol*. [Gene Therapy / Novel Therapeutics]
Elhusseiny AM (2024). [PMID: 39610584](https://pubmed.ncbi.nlm.nih.gov/39610584/). *Cureus*. [Case Report / Case Series]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 7:52 PM UTC
Common questions about PRPH2-related retinopathy
Tebbe L (2024). [PMID: 38799985](https://pubmed.ncbi.nlm.nih.gov/38799985/). *Front Cell Neurosci*. [Review / Meta-Analysis]