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congenital stationary night blindness 1G - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital stationary night blindness 1G

MONDO:0014614

Also known as:CSNB1Gcongenital stationary night blindness type 1Gnight blindness, congenital stationary, type 1G

Overview

A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.

GeneticsAutosomal recessive · GNAT1 (chr 3)

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Constriction of peripheral visual field, Congenital stationary night blindness, Optic disc pallor, and Rod-cone dystrophy. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	3	Congenital stationary night blindness, Visual impairment, Optic disc pallor

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GNAT1 encodes G protein subunit alpha transducin 1 (350 aa). Functions as a signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina. Highest expression in Testis (2.2 TPM) and Liver (0.2 TPM).

Congenital stationary night blindness 1G is associated with mutations in the GNAT1 gene on chromosome 3.

The GNAT1 protein participates in GNAT1 (Met removed), METAP1/2 demethylates GNAT1, and NMT1/2 transfer MYS to GNAT1 pathways.

GNAT1 is classified as a druggable target (G Protein Coupled Receptor category) with score 0.0.

Diagnosis

Genetic testing for GNAT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital stationary night blindness 1G has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

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

7 publications have been identified in PubMed for congenital stationary night blindness 1G. Research spans Basic Science / Preclinical (57%), Review / Meta-Analysis (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Katanaev VL (2025). [PMID: 40745211](https://pubmed.ncbi.nlm.nih.gov/40745211/). *EMBO Mol Med*. [Review / Meta-Analysis]
Rui X (2025). [PMID: 40175531](https://pubmed.ncbi.nlm.nih.gov/40175531/). *Sci Rep*. [Diagnostic / Biomarker]
Durajczyk M (2025). [PMID: 40004769](https://pubmed.ncbi.nlm.nih.gov/40004769/). *J Clin Med*. [Review / Meta-Analysis]
Chai Z (2024). [PMID: 39656211](https://pubmed.ncbi.nlm.nih.gov/39656211/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]
Jiang X (2024). [PMID: 39728691](https://pubmed.ncbi.nlm.nih.gov/39728691/). *Invest Ophthalmol Vis Sci*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616389

GARD

Genetic and Rare Diseases Info Center

GARD:16099

Questions for Your Care Team

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congenital stationary night blindness 1G

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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