Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene.
Features include always present findings: Constriction of peripheral visual field, Nyctalopia, Color vision defect, and Slow pupillary light response and others; and very common findings: Attenuation of retinal blood vessels and Myopia. 20 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 8 | Color vision defect, Pigmentary retinopathy, Nystagmus |
TULP1 function has not been fully characterized.
Leber congenital amaurosis 15 is caused by mutations in the TULP1 gene on chromosome 6.
Genetic testing for TULP1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Leber congenital amaurosis 15 has been reported in the published literature.
Phenotype severity distribution: 7 always present features, 2 very common features, 3 common features.
No clinical trials have been registered for Leber congenital amaurosis 15.
34 publications have been identified in PubMed for Leber congenital amaurosis 15. Research spans Epidemiology / Natural History (41%), Review / Meta-Analysis (18%), and Basic Science / Preclinical (18%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 14 | 41% |
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 15
Muscles |
1 |
Peripapillary atrophy |
Research summaries
6 |
18% |
Laboratory research | 6 | 18% |
Patient case studies | 3 | 9% |
Clinical study results | 2 | 6% |
New treatment approaches | 2 | 6% |
Testing and diagnosis research | 1 | 3% |
Cao LY (2026). [PMID: 41912321](https://pubmed.ncbi.nlm.nih.gov/41912321/). *Ophthalmic Genet*. [Case Report / Case Series]
Kadyshev VV (2026). [PMID: 41847811](https://pubmed.ncbi.nlm.nih.gov/41847811/). *Vestn Oftalmol*. [Epidemiology / Natural History]
Srivastava A (2026). [PMID: 41489395](https://pubmed.ncbi.nlm.nih.gov/41489395/). *mBio*. [Review / Meta-Analysis]
Hwang S (2026). [PMID: 42192584](https://pubmed.ncbi.nlm.nih.gov/42192584/). *Korean J Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Massengill MT (2026). [PMID: 41595470](https://pubmed.ncbi.nlm.nih.gov/41595470/). *Genes (Basel)*. [Basic Science / Preclinical]
Ameri H (2025). [PMID: 39930178](https://pubmed.ncbi.nlm.nih.gov/39930178/). *Adv Exp Med Biol*. [Review / Meta-Analysis]
Yu X (2025). [PMID: 41463332](https://pubmed.ncbi.nlm.nih.gov/41463332/). *Biomolecules*. [Review / Meta-Analysis]
Zhou D (2025). [PMID: 40427560](https://pubmed.ncbi.nlm.nih.gov/40427560/). *Biomolecules*. [Review / Meta-Analysis]
Lee H (2025). [PMID: 39835736](https://pubmed.ncbi.nlm.nih.gov/39835736/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Bhate M (2025). [PMID: 40190368](https://pubmed.ncbi.nlm.nih.gov/40190368/). *Neuroophthalmology*. [Epidemiology / Natural History]