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 LRAT gene.
Features include: Undetectable electroretinogram, Nyctalopia, Pallor, and Nystagmus and 8 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Nystagmus, Congenital blindness, Optic disc pallor |
Muscles |
LRAT encodes lecithin retinol acyltransferase (230 aa). Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A (Probable). Highest expression in Testis (3.3 TPM) and Brain Spinal cord cervical c-1 (3.2 TPM).
Leber congenital amaurosis 14 is associated with mutations in the LRAT gene on chromosome 4.
The LRAT protein participates in LRAT esterifies RBP1:atROL and FACYLs to atREs, LRAT esterifies RBP2:atROL and FACYLs to atREs, and Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs pathways.
LRAT is classified as a druggable target (Enzyme category) with score 0.0.
Genetic testing for LRAT is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Leber congenital amaurosis 14 has been reported in the published literature.
No clinical trials have been registered for Leber congenital amaurosis 14.
23 publications have been identified in PubMed for Leber congenital amaurosis 14. Research spans Epidemiology / Natural History (43%), Basic Science / Preclinical (22%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 10 | 43% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:57 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 14
1
Falls |
Pregnancy and birth | 1 | Congenital blindness |
Laboratory research
5 |
22% |
Patient case studies | 4 | 17% |
Testing and diagnosis research | 1 | 4% |
Research summaries | 1 | 4% |
Clinical study results | 1 | 4% |
New treatment approaches | 1 | 4% |
Stephenson KAJ (2026). [PMID: 41679721](https://pubmed.ncbi.nlm.nih.gov/41679721/). *Can J Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Kadyshev VV (2026). [PMID: 41847811](https://pubmed.ncbi.nlm.nih.gov/41847811/). *Vestn Oftalmol*. [Epidemiology / Natural History]
Baldaquí-Baeza A (2026). [PMID: 42065837](https://pubmed.ncbi.nlm.nih.gov/42065837/). *Doc Ophthalmol*. [Case Report / Case Series]
Wolfram L (2025). [PMID: 41251530](https://pubmed.ncbi.nlm.nih.gov/41251530/). *Transl Vis Sci Technol*. [Case Report / Case Series]
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *J Med Case Rep*. [Case Report / Case Series]
Higgins BE (2025). [PMID: 40149532](https://pubmed.ncbi.nlm.nih.gov/40149532/). *Biomedicines*. [Diagnostic / Biomarker]
Song HB (2025). [PMID: 40231721](https://pubmed.ncbi.nlm.nih.gov/40231721/). *Elife*. [Basic Science / Preclinical]
Zafar A (2025). [PMID: 40141357](https://pubmed.ncbi.nlm.nih.gov/40141357/). *Int J Mol Sci*. [Basic Science / Preclinical]
Chow DR (2025). [PMID: 41010702](https://pubmed.ncbi.nlm.nih.gov/41010702/). *J Clin Med*. [Clinical Trial Publication]
Li S (2025). [PMID: 40002341](https://pubmed.ncbi.nlm.nih.gov/40002341/). *Antioxidants (Basel)*. [Basic Science / Preclinical]