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congenital stationary night blindness autosomal dominant 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital stationary night blindness autosomal dominant 3

MONDO:0012497

Also known as:CSNBAD3Nougaret type congenital stationary night blindnesscongenital stationary night blindness autosomal dominant type 3

Overview

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

GeneticsAutosomal dominant · GNAT1 (chr 3)

ResearchLimited published research (5 articles)

Clinical Presentation

Features include: Congenital stationary night blindness.

Organ System	Phenotype Count	Example Features
Eyes	1	Congenital stationary night blindness
Pregnancy and birth	1	Congenital stationary night blindness

Explore clinical features

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 autosomal dominant 3 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.

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 autosomal dominant 3.

5 publications have been identified in PubMed for congenital stationary night blindness autosomal dominant 3. Research spans Review / Meta-Analysis (60%) and Case Report / Case Series (40%).

Recent Publications

Chou JJ (2026). [PMID: 41954843](https://pubmed.ncbi.nlm.nih.gov/41954843/). *Doc Ophthalmol*. [Case Report / Case Series]
Wen L (2025). [PMID: 39652271](https://pubmed.ncbi.nlm.nih.gov/39652271/). *Documenta ophthalmologica. Advances in ophthalmology*. [Case Report / Case Series]
Wong WM (2025). [PMID: 40013354](https://pubmed.ncbi.nlm.nih.gov/40013354/). *Clinical & experimental ophthalmology*. [Review / Meta-Analysis]
Zhang Y (2025). [PMID: 40181393](https://pubmed.ncbi.nlm.nih.gov/40181393/). *Journal of translational medicine*. [Review / Meta-Analysis]
Durajczyk M (2025). [PMID: 40004769](https://pubmed.ncbi.nlm.nih.gov/40004769/). *Journal of clinical medicine*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:610444

GARD

Genetic and Rare Diseases Info Center

GARD:15487

Questions for Your Care Team

→Should I pursue genetic testing for GNAT1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital stationary night blindness autosomal dominant 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team