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A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene.
Biomarker and diagnostic research for GUCY2D-related dominant retinopathy has been reported in the published literature.
No clinical trials have been registered for GUCY2D-related dominant retinopathy.
14 publications have been identified in PubMed for GUCY2D-related dominant retinopathy. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (21%), and Case Report / Case Series (21%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 4 | 29% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 11:24 AM UTC
Common questions about GUCY2D-related dominant retinopathy
Research summaries
3 |
21% |
Patient case studies | 3 | 21% |
Laboratory research | 2 | 14% |
Testing and diagnosis research | 1 | 7% |
New treatment approaches | 1 | 7% |
Sato S (2026). [PMID: 42045071](https://pubmed.ncbi.nlm.nih.gov/42045071/). *J Neurosci*. [Gene Therapy / Novel Therapeutics]
Demirkol A (2026). [PMID: 41751276](https://pubmed.ncbi.nlm.nih.gov/41751276/). *Biomedicines*. [Epidemiology / Natural History]
Zaki HF (2026). [PMID: 42264060](https://pubmed.ncbi.nlm.nih.gov/42264060/). *Exp Eye Res*. [Review / Meta-Analysis]
Guareschi BLV (2025). [PMID: 41012804](https://pubmed.ncbi.nlm.nih.gov/41012804/). *Veterinary sciences*. [Basic Science / Preclinical]
Liu C (2025). [PMID: 41153400](https://pubmed.ncbi.nlm.nih.gov/41153400/). *Genes*. [Basic Science / Preclinical]
Sao Su S (2025). [PMID: 40101946](https://pubmed.ncbi.nlm.nih.gov/40101946/). *Ophthalmic genetics*. [Epidemiology / Natural History]
Sanders F (2025). [PMID: 40541286](https://pubmed.ncbi.nlm.nih.gov/40541286/). *The British journal of ophthalmology*. [Epidemiology / Natural History]
Ba-Abbad R (2025). [PMID: 40478561](https://pubmed.ncbi.nlm.nih.gov/40478561/). *Investigative ophthalmology & visual science*. [Case Report / Case Series]
Dizhoor AM (2025). [PMID: 39909376](https://pubmed.ncbi.nlm.nih.gov/39909376/). *The Journal of biological chemistry*. [Case Report / Case Series]
Fang XH (2025). [PMID: 40688792](https://pubmed.ncbi.nlm.nih.gov/40688792/). *Int J Ophthalmol*. [Review / Meta-Analysis]