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Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene.
Features include always present findings: Reduced visual acuity, Congenital stationary night blindness, and Abnormal electroretinogram; and very common findings: Myopia. 8 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 3 | Strabismus, Nystagmus, Congenital stationary night blindness |
Skin | 2 | Skin color changes (abnormality of skin pigmentation), Dry skin |
Pregnancy and birth | 1 | Congenital stationary night blindness |
TRPM1 function has not been fully characterized.
Congenital stationary night blindness 1C is associated with mutations in the TRPM1 gene on chromosome 15.
Genetic testing for TRPM1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for congenital stationary night blindness 1C has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 1 very common feature, 3 common features.
No clinical trials have been registered for congenital stationary night blindness 1C.
22 publications have been identified in PubMed for congenital stationary night blindness 1C. Research spans Basic Science / Preclinical (41%), Epidemiology / Natural History (32%), and Case Report / Case Series (14%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 9 | 41% |
Disease patterns and progression | 7 | 32% |
Patient case studies | 3 | 14% |
Testing and diagnosis research | 1 | 5% |
Research summaries | 1 | 5% |
New treatment approaches | 1 | 5% |
Boranijasevic S (2026). [PMID: 41343198](https://pubmed.ncbi.nlm.nih.gov/41343198/). *JAMA Ophthalmol*. [Case Report / Case Series]
Fabrizio M (2026). [PMID: 41857038](https://pubmed.ncbi.nlm.nih.gov/41857038/). *Nat Commun*. [Basic Science / Preclinical]
Spanic F (2026). [PMID: 41729106](https://pubmed.ncbi.nlm.nih.gov/41729106/). *Acta Ophthalmol*. [Gene Therapy / Novel Therapeutics]
Ezra Kahtan B (2026). [PMID: 41490227](https://pubmed.ncbi.nlm.nih.gov/41490227/). *Retina*. [Basic Science / Preclinical]
Hasan N (2026). [PMID: 42055330](https://pubmed.ncbi.nlm.nih.gov/42055330/). *J Biol Chem*. [Basic Science / Preclinical]
Parveen R (2026). [PMID: 42194996](https://pubmed.ncbi.nlm.nih.gov/42194996/). *Genes (Basel)*. [Basic Science / Preclinical]
Taha I (2026). [PMID: 42106701](https://pubmed.ncbi.nlm.nih.gov/42106701/). *BMC Ophthalmol*. [Review / Meta-Analysis]
Ling J (2026). [PMID: 42147812](https://pubmed.ncbi.nlm.nih.gov/42147812/). *Hum Mutat*. [Epidemiology / Natural History]
Qi R (2026). [PMID: 42211199](https://pubmed.ncbi.nlm.nih.gov/42211199/). *Int J Ophthalmol*. [Epidemiology / Natural History]
Sundaramurthy S (2025). [PMID: 40551348](https://pubmed.ncbi.nlm.nih.gov/40551348/). *Acta Ophthalmol*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:58 PM UTC
Online Mendelian Inheritance in Man
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