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Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene.
Features include common findings: Seizure. 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Seizure |
Eyes | 1 | Visual impairment |
Age of onset: at birth.
CEP290 encodes centrosomal protein 290 (2,479 aa). Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110. Highest expression in Ovary (16.9 TPM) and Nerve Tibial (14.0 TPM).
Leber congenital amaurosis 10 is associated with mutations in the CEP290 gene on chromosome 12.
The CEP290 protein participates in CP110 and CEP97 dissociate from the centriole, The distal appendage proteins recruit TTBK2, and Anchoring of the basal body to the plasma membrane pathways.
CEP290 is classified as a druggable target with score 0.0.
Genetic testing for CEP290 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 common feature.
2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE3, 1 PHASE2. Research is primarily industry-sponsored.
18 publications have been identified in PubMed for Leber congenital amaurosis 10. Research spans Review / Meta-Analysis (33%), Epidemiology / Natural History (28%), and Basic Science / Preclinical (17%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 6 |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 10
Disease patterns and progression | 5 | 28% |
Laboratory research | 3 | 17% |
Patient case studies | 2 | 11% |
New treatment approaches | 2 | 11% |
Wang L (2026). [PMID: 41703510](https://pubmed.ncbi.nlm.nih.gov/41703510/). *BMC ophthalmology*. [Case Report / Case Series]
Galdikaite-Braziene E (2026). [PMID: 41702027](https://pubmed.ncbi.nlm.nih.gov/41702027/). *Molecular aspects of medicine*. [Review / Meta-Analysis]
Swaroop A (2026). [PMID: 42183349](https://pubmed.ncbi.nlm.nih.gov/42183349/). *Res Sq*. [Basic Science / Preclinical]
Leon Agudelo JA (2026). [PMID: 42285217](https://pubmed.ncbi.nlm.nih.gov/42285217/). *Arch Soc Esp Oftalmol (Engl Ed)*. [Review / Meta-Analysis]
Zhao Q (2025). [PMID: 39889868](https://pubmed.ncbi.nlm.nih.gov/39889868/). *Pharmacological research*. [Review / Meta-Analysis]
Song HB (2025). [PMID: 40231721](https://pubmed.ncbi.nlm.nih.gov/40231721/). *eLife*. [Basic Science / Preclinical]
Athanasiou D (2025). [PMID: 39934925](https://pubmed.ncbi.nlm.nih.gov/39934925/). *Acta neuropathologica communications*. [Gene Therapy / Novel Therapeutics]
Moye AR (2025). [PMID: 39896654](https://pubmed.ncbi.nlm.nih.gov/39896654/). *bioRxiv : the preprint server for biology*. [Epidemiology / Natural History]
Kikani BA (2025). [PMID: 40407606](https://pubmed.ncbi.nlm.nih.gov/40407606/). *Ophthalmic surgery, lasers & imaging retina*. [Case Report / Case Series]
Tsang SH (2025). [PMID: 40736828](https://pubmed.ncbi.nlm.nih.gov/40736828/). *Advances in experimental medicine and biology*. [Review / Meta-Analysis]