Features include: Congenital stationary night blindness and Mizuo phenomenon.

GRK1 encodes G protein-coupled receptor kinase 1 (563 aa). Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade.

Oguchi disease-2 is associated with mutations in the GRK1 gene on chromosome 13.

The GRK1 protein participates in MII catalyses GDP/GTP exchange on Gt pathway.

GRK1 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Genetic testing for GRK1 is available. Testing is considered confirmatory for diagnosis.

No clinical trials have been registered for Oguchi disease-2.

8 publications have been identified in PubMed for Oguchi disease-2. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

• Molina Martín JC (2026). [PMID: 42039976](https://pubmed.ncbi.nlm.nih.gov/42039976/). *Int J Ophthalmol*. [Basic Science / Preclinical]

• Fathy N (2026). [PMID: 41520369](https://pubmed.ncbi.nlm.nih.gov/41520369/). *Ophthalmic Genet*. [Basic Science / Preclinical]

• Rana V (2026). [PMID: 41772076](https://pubmed.ncbi.nlm.nih.gov/41772076/). *Eye (Lond)*. [Case Report / Case Series]

• Thompson MD (2025). [PMID: 39743506](https://pubmed.ncbi.nlm.nih.gov/39743506/). *Crit Rev Clin Lab Sci*. [Review / Meta-Analysis]

• Fan F (2025). [PMID: 40668311](https://pubmed.ncbi.nlm.nih.gov/40668311/). *Int Ophthalmol*. [Review / Meta-Analysis]

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