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Any isolated retinopathy caused by variants in the HGSNAT gene.
Biomarker and diagnostic research for HGSNAT-related retinopathy has been reported in the published literature.
No clinical trials have been registered for HGSNAT-related retinopathy.
99 publications have been identified in PubMed for HGSNAT-related retinopathy. Research spans Basic Science / Preclinical (36%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (13%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 36 | 36% |
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC
Common questions about HGSNAT-related retinopathy
22 |
22% |
Disease patterns and progression | 13 | 13% |
Patient case studies | 10 | 10% |
New treatment approaches | 10 | 10% |
Testing and diagnosis research | 5 | 5% |
Clinical study results | 2 | 2% |
Other research | 1 | 1% |
Wang X (2026). [PMID: 41662529](https://pubmed.ncbi.nlm.nih.gov/41662529/). *Proceedings of the National Academy of Sciences of the United States of America*. [Case Report / Case Series]
Niaudet C (2026). [PMID: 41271176](https://pubmed.ncbi.nlm.nih.gov/41271176/). *Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology*. [Basic Science / Preclinical]
Mukundan A (2026). [PMID: 41316839](https://pubmed.ncbi.nlm.nih.gov/41316839/). *Ocular immunology and inflammation*. [Case Report / Case Series]
Ramtohul P (2025). [PMID: 40436146](https://pubmed.ncbi.nlm.nih.gov/40436146/). *Ophthalmology. Retina*. [Case Report / Case Series]
Viana GM (2025). [PMID: 40092638](https://pubmed.ncbi.nlm.nih.gov/40092638/). *Molecular therapy. Methods & clinical development*. [Basic Science / Preclinical]
Arrigo A (2025). [PMID: 40254246](https://pubmed.ncbi.nlm.nih.gov/40254246/). *Progress in retinal and eye research*. [Gene Therapy / Novel Therapeutics]
Cheng Y (2025). [PMID: 39905000](https://pubmed.ncbi.nlm.nih.gov/39905000/). *Nature communications*. [Basic Science / Preclinical]
Hartman GD (2025). [PMID: 40305885](https://pubmed.ncbi.nlm.nih.gov/40305885/). *Redox biology*. [Basic Science / Preclinical]
Morris CA (2025). [PMID: 40670232](https://pubmed.ncbi.nlm.nih.gov/40670232/). *Trends in neurosciences*. [Basic Science / Preclinical]
Unknown (2025). [PMID: 40812579](https://pubmed.ncbi.nlm.nih.gov/40812579/). *Hamostaseologie*. [Review / Meta-Analysis]