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Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene.
Features include always present findings: Nystagmus, Cataract, and Reduced visual acuity; and common findings: Strabismus, Nyctalopia, and Visual field defect. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 5 | Strabismus, Nystagmus, Cataract |
Age of onset: at birth, adulthood.
KCNJ13 encodes potassium inwardly rectifying channel subfamily J member 13 (360 aa). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Highest expression in Small Intestine Terminal Ileum (21.4 TPM) and Kidney Medulla (1.3 TPM).
Leber congenital amaurosis 16 is associated with mutations in the KCNJ13 gene on chromosome 2.
KCNJ13 is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 0.0.
Genetic testing for KCNJ13 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Leber congenital amaurosis 16 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 3 common features.
No clinical trials have been registered for Leber congenital amaurosis 16.
30 publications have been identified in PubMed for Leber congenital amaurosis 16. Research spans Epidemiology / Natural History (45%), Basic Science / Preclinical (21%), and Diagnostic / Biomarker (10%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 13 | 45% |
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 16
Laboratory research
6 |
21% |
Testing and diagnosis research | 3 | 10% |
Research summaries | 3 | 10% |
Patient case studies | 3 | 10% |
Clinical study results | 1 | 3% |
Kabra M (2026). [PMID: 42157932](https://pubmed.ncbi.nlm.nih.gov/42157932/). *Int J Biol Sci*. [Basic Science / Preclinical]
Shahi PK (2026). [PMID: 42265079](https://pubmed.ncbi.nlm.nih.gov/42265079/). *Signal Transduct Target Ther*. [Basic Science / Preclinical]
Kadyshev VV (2026). [PMID: 41847811](https://pubmed.ncbi.nlm.nih.gov/41847811/). *Vestn Oftalmol*. [Epidemiology / Natural History]
Kadyshev VV (2026). [PMID: 41847810](https://pubmed.ncbi.nlm.nih.gov/41847810/). *Vestn Oftalmol*. [Basic Science / Preclinical]
Baldaquí-Baeza A (2026). [PMID: 42065837](https://pubmed.ncbi.nlm.nih.gov/42065837/). *Doc Ophthalmol*. [Epidemiology / Natural History]
Abiib S (2025). [PMID: 41465088](https://pubmed.ncbi.nlm.nih.gov/41465088/). *Genes (Basel)*. [Review / Meta-Analysis]
Akyuz E (2025). [PMID: 40672310](https://pubmed.ncbi.nlm.nih.gov/40672310/). *bioRxiv*. [Basic Science / Preclinical]
Bhate M (2025). [PMID: 40190368](https://pubmed.ncbi.nlm.nih.gov/40190368/). *Neuroophthalmology*. [Epidemiology / Natural History]
Woof WA (2025). [PMID: 39896422](https://pubmed.ncbi.nlm.nih.gov/39896422/). *Ophthalmol Sci*. [Epidemiology / Natural History]
Tworak A (2025). [PMID: 40249779](https://pubmed.ncbi.nlm.nih.gov/40249779/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]