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Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene.
Features include always present findings: Ultra-low vision with retained motion projection.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 1 | Ultra-low vision with retained motion projection |
GDF6 encodes growth differentiation factor 6 (455 aa). Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Highest expression in Cells Cultured fibroblasts (2.7 TPM) and Uterus (2.6 TPM).
Leber congenital amaurosis 17 is associated with mutations in the GDF6 gene on chromosome 8.
GDF6 is classified as a druggable target (Druggable Genome, Growth Factor, and Transcription Factor categories) with score 0.0.
Genetic testing for GDF6 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Leber congenital amaurosis 17 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for Leber congenital amaurosis 17.
18 publications have been identified in PubMed for Leber congenital amaurosis 17. Research spans Epidemiology / Natural History (44%), Basic Science / Preclinical (28%), and Review / Meta-Analysis (22%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 8 | 44% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 17
Laboratory research
5 |
28% |
Research summaries | 4 | 22% |
Testing and diagnosis research | 1 | 6% |
Zhang H (2026). [PMID: 41922335](https://pubmed.ncbi.nlm.nih.gov/41922335/). *Cell Death Dis*. [Basic Science / Preclinical]
Massengill MT (2026). [PMID: 41595470](https://pubmed.ncbi.nlm.nih.gov/41595470/). *Genes (Basel)*. [Epidemiology / Natural History]
Srivastava A (2026). [PMID: 41489395](https://pubmed.ncbi.nlm.nih.gov/41489395/). *mBio*. [Review / Meta-Analysis]
Kadyshev VV (2026). [PMID: 41847811](https://pubmed.ncbi.nlm.nih.gov/41847811/). *Vestn Oftalmol*. [Epidemiology / Natural History]
Bubis E (2025). [PMID: 40528096](https://pubmed.ncbi.nlm.nih.gov/40528096/). *Graefes Arch Clin Exp Ophthalmol*. [Basic Science / Preclinical]
Fan X (2025). [PMID: 39856360](https://pubmed.ncbi.nlm.nih.gov/39856360/). *Sci Rep*. [Epidemiology / Natural History]
Song JR (2025). [PMID: 40725491](https://pubmed.ncbi.nlm.nih.gov/40725491/). *Genes (Basel)*. [Epidemiology / Natural History]
Chow DR (2025). [PMID: 41010702](https://pubmed.ncbi.nlm.nih.gov/41010702/). *J Clin Med*. [Basic Science / Preclinical]
Hahn LC (2025). [PMID: 39128788](https://pubmed.ncbi.nlm.nih.gov/39128788/). *Ophthalmol Retina*. [Basic Science / Preclinical]
Russo M (2025). [PMID: 40038803](https://pubmed.ncbi.nlm.nih.gov/40038803/). *Ital J Pediatr*. [Review / Meta-Analysis]