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Any retinopathy caused by a variant in the TOPORS gene.
Biomarker and diagnostic research for TOPORS-related retinopathy has been reported in the published literature.
No clinical trials have been registered for TOPORS-related retinopathy.
4 publications have been identified in PubMed for TOPORS-related retinopathy. Research spans Other (25%), Diagnostic / Biomarker (25%), and Review / Meta-Analysis (25%).
Pirdankar OH (2026). [PMID: 41860208](https://pubmed.ncbi.nlm.nih.gov/41860208/). *J Pediatr Ophthalmol Strabismus*. [Review / Meta-Analysis]
Durmaz Engin C (2025). [PMID: 40211206](https://pubmed.ncbi.nlm.nih.gov/40211206/). *BMC Ophthalmol*. [Epidemiology / Natural History]
Gunawardene AN (2025). [PMID: 39991040](https://pubmed.ncbi.nlm.nih.gov/39991040/). *J Vitreoretin Dis*. [Diagnostic / Biomarker]
Pachade S (2025). [PMID: 39395210](https://pubmed.ncbi.nlm.nih.gov/39395210/). *Med Image Anal*. [Other]
Data assembled from 2 of 12 sources · Last updated Sep 19, 2026, 3:05 AM UTC
Common questions about TOPORS-related retinopathy