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A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis).
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
24 publications have been identified in PubMed for Goldmann-Favre syndrome. Research spans Case Report / Case Series (46%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (17%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 11 | 46% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Goldmann-Favre syndrome
Laboratory research |
5 |
21% |
Research summaries | 4 | 17% |
Other research | 1 | 4% |
Clinical study results | 1 | 4% |
Disease patterns and progression | 1 | 4% |
New treatment approaches | 1 | 4% |
Ramtohul P (2026). [PMID: 42024411](https://pubmed.ncbi.nlm.nih.gov/42024411/). *JAMA Ophthalmol*. [Case Report / Case Series]
Meshkin RS (2026). [PMID: 41583502](https://pubmed.ncbi.nlm.nih.gov/41583502/). *Journal of vitreoretinal diseases*. [Gene Therapy / Novel Therapeutics]
Khan AO (2026). [PMID: 41236202](https://pubmed.ncbi.nlm.nih.gov/41236202/). *Ophthalmic genetics*. [Case Report / Case Series]
Ding QA (2026). [PMID: 41380919](https://pubmed.ncbi.nlm.nih.gov/41380919/). *Free radical biology & medicine*. [Basic Science / Preclinical]
Sun C (2026). [PMID: 39787524](https://pubmed.ncbi.nlm.nih.gov/39787524/). *Retinal cases & brief reports*. [Case Report / Case Series]
Hüther A (2026). [PMID: 41912355](https://pubmed.ncbi.nlm.nih.gov/41912355/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Chen V (2026). [PMID: 41534910](https://pubmed.ncbi.nlm.nih.gov/41534910/). *Ophthalmic genetics*. [Epidemiology / Natural History]
Raza M (2026). [PMID: 41097997](https://pubmed.ncbi.nlm.nih.gov/41097997/). *Ophthalmic genetics*. [Case Report / Case Series]
Martinuzzi D (2026). [PMID: 41981260](https://pubmed.ncbi.nlm.nih.gov/41981260/). *Eye (Lond)*. [Other]
Szala K (2025). [PMID: 40075868](https://pubmed.ncbi.nlm.nih.gov/40075868/). *Diagnostics (Basel, Switzerland)*. [Case Report / Case Series]