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Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene.
Features include: Nystagmus, Reduced visual acuity, and Visual impairment.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 2 | Nystagmus, Visual impairment |
IMPDH1 encodes inosine monophosphate dehydrogenase 1 (514 aa). Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Highest expression in Whole Blood (172.5 TPM) and Spleen (95.6 TPM).
Leber congenital amaurosis 11 is associated with mutations in the IMPDH1 gene on chromosome 7.
The IMPDH1 protein participates in IMP + H2O + NAD+ = XMP + NADH + H+ [IMPDH1,2] and IMPDH tetramers bind IMPDH inhibitors pathways.
IMPDH1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.5.
Genetic testing for IMPDH1 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for Leber congenital amaurosis 11.
41 publications have been identified in PubMed for Leber congenital amaurosis 11. Research spans Epidemiology / Natural History (37%), Basic Science / Preclinical (27%), and Case Report / Case Series (17%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 15 | 37% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:50 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Leber congenital amaurosis 11
Laboratory research
11 |
27% |
Patient case studies | 7 | 17% |
Research summaries | 4 | 10% |
Clinical study results | 2 | 5% |
New treatment approaches | 2 | 5% |
Rodriguez-Martinez AC (2026). [PMID: 41626423](https://pubmed.ncbi.nlm.nih.gov/41626423/). *Ophthalmol Sci*. [Basic Science / Preclinical]
Zhang ZH (2026). [PMID: 41759220](https://pubmed.ncbi.nlm.nih.gov/41759220/). *Stem cell research*. [Basic Science / Preclinical]
Stephenson KAJ (2026). [PMID: 41679721](https://pubmed.ncbi.nlm.nih.gov/41679721/). *Can J Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Mizobuchi K (2026). [PMID: 42102949](https://pubmed.ncbi.nlm.nih.gov/42102949/). *Am J Ophthalmol*. [Epidemiology / Natural History]
Ichas M (2026). [PMID: 41856782](https://pubmed.ncbi.nlm.nih.gov/41856782/). *Pediatr Transplant*. [Case Report / Case Series]
Ullah M (2026). [PMID: 41343195](https://pubmed.ncbi.nlm.nih.gov/41343195/). *JAMA Ophthalmol*. [Epidemiology / Natural History]
Chiu CN (2026). [PMID: 41135835](https://pubmed.ncbi.nlm.nih.gov/41135835/). *Exp Eye Res*. [Basic Science / Preclinical]
Huynh BC (2026). [PMID: 41845931](https://pubmed.ncbi.nlm.nih.gov/41845931/). *Ophthalmic Genet*. [Basic Science / Preclinical]
Shahi PK (2026). [PMID: 42265079](https://pubmed.ncbi.nlm.nih.gov/42265079/). *Signal Transduct Target Ther*. [Basic Science / Preclinical]
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *J Med Case Rep*. [Case Report / Case Series]