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A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene.
Biomarker and diagnostic research for FLVCR1-related retinopathy with or without ataxia has been reported in the published literature.
No clinical trials have been registered for FLVCR1-related retinopathy with or without ataxia.
206 publications have been identified in PubMed for FLVCR1-related retinopathy with or without ataxia. Kisho has analyzed 157 by research type. Research spans Review / Meta-Analysis (25%), Basic Science / Preclinical (24%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 40 | 25% |
Data assembled from 2 of 12 sources · Last updated Sep 20, 2026, 6:50 AM UTC
Common questions about FLVCR1-related retinopathy with or without ataxia
Laboratory research |
37 |
24% |
Disease patterns and progression | 31 | 20% |
Testing and diagnosis research | 21 | 13% |
Patient case studies | 18 | 11% |
Clinical study results | 7 | 4% |
New treatment approaches | 3 | 2% |
Manto M (2026). [PMID: 41663552](https://pubmed.ncbi.nlm.nih.gov/41663552/). *J Neurol*. [Basic Science / Preclinical]
Banez-Coronel M (2026). [PMID: 41422503](https://pubmed.ncbi.nlm.nih.gov/41422503/). *Cell Rep*. [Basic Science / Preclinical]
Menden B (2026). [PMID: 41690933](https://pubmed.ncbi.nlm.nih.gov/41690933/). *Nature communications*. [Epidemiology / Natural History]
Xu M (2026). [PMID: 41421454](https://pubmed.ncbi.nlm.nih.gov/41421454/). *Neurobiol Dis*. [Basic Science / Preclinical]
Peppel L (2026). [PMID: 40350965](https://pubmed.ncbi.nlm.nih.gov/40350965/). *The Journal of neuropsychiatry and clinical neurosciences*. [Epidemiology / Natural History]
Fang Y (2026). [PMID: 42105044](https://pubmed.ncbi.nlm.nih.gov/42105044/). *Cerebellum*. [Review / Meta-Analysis]
Ding S (2026). [PMID: 40396313](https://pubmed.ncbi.nlm.nih.gov/40396313/). *Current neuropharmacology*. [Review / Meta-Analysis]
Erdmann H (2026). [PMID: 40898875](https://pubmed.ncbi.nlm.nih.gov/40898875/). *Brain*. [Epidemiology / Natural History]
Gold DR (2026). [PMID: 40693779](https://pubmed.ncbi.nlm.nih.gov/40693779/). *J Neuroophthalmol*. [Basic Science / Preclinical]
Bertino F (2026). [PMID: 41691085](https://pubmed.ncbi.nlm.nih.gov/41691085/). *Communications biology*. [Basic Science / Preclinical]