GRM6 encodes glutamate metabotropic receptor 6 (877 aa). G-protein coupled receptor for glutamate. Highest expression in Testis (1.9 TPM) and Pituitary (1.5 TPM).

Congenital stationary night blindness 1B is associated with mutations in the GRM6 gene on chromosome 5.

GRM6 is classified as a druggable target (Druggable Genome and G Protein Coupled Receptor categories) with score 3.5.

Genetic testing for GRM6 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 2 always present features, 3 common features.

No clinical trials have been registered for congenital stationary night blindness 1B.

12 publications have been identified in PubMed for congenital stationary night blindness 1B. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Boranijasevic S (2026). [PMID: 41343198](https://pubmed.ncbi.nlm.nih.gov/41343198/). *JAMA Ophthalmol*. [Case Report / Case Series]

• Spanic F (2026). [PMID: 41729106](https://pubmed.ncbi.nlm.nih.gov/41729106/). *Acta Ophthalmol*. [Basic Science / Preclinical]

• Taha I (2026). [PMID: 42106701](https://pubmed.ncbi.nlm.nih.gov/42106701/). *BMC Ophthalmol*. [Review / Meta-Analysis]

• Kuszel L (2026). [PMID: 42278384](https://pubmed.ncbi.nlm.nih.gov/42278384/). *Int J Mol Sci*. [Epidemiology / Natural History]

• Wen L (2025). [PMID: 39652271](https://pubmed.ncbi.nlm.nih.gov/39652271/). *Doc Ophthalmol*. [Case Report / Case Series]

• Zhang Y (2025). [PMID: 40181393](https://pubmed.ncbi.nlm.nih.gov/40181393/). *J Transl Med*. [Review / Meta-Analysis]

• Sundaramurthy S (2025). [PMID: 40551348](https://pubmed.ncbi.nlm.nih.gov/40551348/). *Acta Ophthalmol*. [Epidemiology / Natural History]

• Lin PH (2025). [PMID: 40923695](https://pubmed.ncbi.nlm.nih.gov/40923695/). *Invest Ophthalmol Vis Sci*. [Gene Therapy / Novel Therapeutics]

• Hasan N (2025). [PMID: 40766553](https://pubmed.ncbi.nlm.nih.gov/40766553/). *bioRxiv*. [Basic Science / Preclinical]

• Pindwarawala M (2025). [PMID: 39681475](https://pubmed.ncbi.nlm.nih.gov/39681475/). *Life Sci Alliance*. [Basic Science / Preclinical]