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Any retinopathy caused by bi-allelic variants in the IMPG2 gene.
Biomarker and diagnostic research for IMPG2-related recessive retinopathy has been reported in the published literature.
No clinical trials have been registered for IMPG2-related recessive retinopathy.
3 publications have been identified in PubMed for IMPG2-related recessive retinopathy. Research spans Diagnostic / Biomarker (33%), Case Report / Case Series (33%), and Epidemiology / Natural History (33%).
Marta A (2025). [PMID: 39939324](https://pubmed.ncbi.nlm.nih.gov/39939324/). *NPJ genomic medicine*. [Epidemiology / Natural History]
Kellner U (2025). [PMID: 39963372](https://pubmed.ncbi.nlm.nih.gov/39963372/). *Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V*. [Diagnostic / Biomarker]
Amato A (2025). [PMID: 40236509](https://pubmed.ncbi.nlm.nih.gov/40236509/). *American journal of ophthalmology case reports*. [Case Report / Case Series]
Data assembled from 2 of 12 sources · Last updated Sep 18, 2026, 12:13 AM UTC
Common questions about IMPG2-related recessive retinopathy