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Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene.
Features include always present findings: Congenital stationary night blindness; and common findings: Nystagmus. 6 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Strabismus, Nystagmus, Congenital stationary night blindness |
Pregnancy and birth | 1 | Congenital stationary night blindness |
GPR179 encodes G protein-coupled receptor 179 (2,367 aa). Orphan receptor involved in vision. Required for signal transduction through retinal depolarizing bipolar cells. Highest expression in Brain Cerebellar Hemisphere (2.5 TPM) and Brain Cerebellum (2.5 TPM).
Congenital stationary night blindness 1E is associated with mutations in the GPR179 gene on chromosome 17.
GPR179 is classified as a druggable target (G Protein Coupled Receptor category) with score 0.0.
Genetic testing for GPR179 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for congenital stationary night blindness 1E has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for congenital stationary night blindness 1E.
9 publications have been identified in PubMed for congenital stationary night blindness 1E. Research spans Basic Science / Preclinical (44%), Gene Therapy / Novel Therapeutics (22%), and Diagnostic / Biomarker (11%).
Parveen R (2026). [PMID: 42194996](https://pubmed.ncbi.nlm.nih.gov/42194996/). *Genes (Basel)*. [Basic Science / Preclinical]
Spanic F (2026). [PMID: 41729106](https://pubmed.ncbi.nlm.nih.gov/41729106/). *Acta ophthalmologica*. [Basic Science / Preclinical]
Taha I (2026). [PMID: 42106701](https://pubmed.ncbi.nlm.nih.gov/42106701/). *BMC Ophthalmol*. [Review / Meta-Analysis]
Sundaramurthy S (2025). [PMID: 40551348](https://pubmed.ncbi.nlm.nih.gov/40551348/). *Acta ophthalmologica*. [Diagnostic / Biomarker]
Hasan N (2025). [PMID: 40766553](https://pubmed.ncbi.nlm.nih.gov/40766553/). *bioRxiv : the preprint server for biology*. [Gene Therapy / Novel Therapeutics]
Zhao C (2025). [PMID: 40263339](https://pubmed.ncbi.nlm.nih.gov/40263339/). *Nature communications*. [Gene Therapy / Novel Therapeutics]
Yun Y (2024). [PMID: 39333506](https://pubmed.ncbi.nlm.nih.gov/39333506/). *Nature communications*. [Basic Science / Preclinical]
Katta M (2024). [PMID: 38522615](https://pubmed.ncbi.nlm.nih.gov/38522615/). *Ophthalmology. Retina*. [Case Report / Case Series]
Hu H (2024). [PMID: 39055259](https://pubmed.ncbi.nlm.nih.gov/39055259/). *Frontiers in genetics*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
Online Mendelian Inheritance in Man
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