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A retinopathy, typically severe, and early onset, caused by biallelic variants in the RDH12 gene.
Biomarker and diagnostic research for RDH12-related recessive retinopathy has been reported in the published literature.
No clinical trials have been registered for RDH12-related recessive retinopathy.
25 publications have been identified in PubMed for RDH12-related recessive retinopathy. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 7 | 29% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 3:06 AM UTC
Common questions about RDH12-related recessive retinopathy
Research summaries
4 |
17% |
Patient case studies | 4 | 17% |
Testing and diagnosis research | 3 | 13% |
Laboratory research | 3 | 13% |
New treatment approaches | 3 | 13% |
Hong Y (2026). [PMID: 41242591](https://pubmed.ncbi.nlm.nih.gov/41242591/). *American journal of ophthalmology*. [Diagnostic / Biomarker]
Pavlova P (2026). [PMID: 41683787](https://pubmed.ncbi.nlm.nih.gov/41683787/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]
Kadyshev VV (2026). [PMID: 41847811](https://pubmed.ncbi.nlm.nih.gov/41847811/). *Vestnik oftalmologii*. [Epidemiology / Natural History]
Little DR (2026). [PMID: 41867838](https://pubmed.ncbi.nlm.nih.gov/41867838/). *bioRxiv : the preprint server for biology*. [Diagnostic / Biomarker]
Scarpato M (2025). [PMID: 39876836](https://pubmed.ncbi.nlm.nih.gov/39876836/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Méjécase C (2025). [PMID: 40365019](https://pubmed.ncbi.nlm.nih.gov/40365019/). *Frontiers in cell and developmental biology*. [Review / Meta-Analysis]
Simoens D (2025). [PMID: 41140124](https://pubmed.ncbi.nlm.nih.gov/41140124/). *Cutaneous and ocular toxicology*. [Review / Meta-Analysis]
Athanasiou D (2025). [PMID: 39934925](https://pubmed.ncbi.nlm.nih.gov/39934925/). *Acta neuropathologica communications*. [Gene Therapy / Novel Therapeutics]
Higgins BE (2025). [PMID: 40149532](https://pubmed.ncbi.nlm.nih.gov/40149532/). *Biomedicines*. [Case Report / Case Series]
Li S (2025). [PMID: 40002341](https://pubmed.ncbi.nlm.nih.gov/40002341/). *Antioxidants (Basel, Switzerland)*. [Epidemiology / Natural History]