congenital stationary night blindness 1G
Findings
No curated finding names congenital stationary night blindness 1G yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.
Definition from the Mondo Disease Ontology (MONDO:0014614), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 1 reported patient
- Early-onset non-progressive night blindnessHPOHP:0007642
- 4 of 4 reported patients · Childhood onset
- 1 of 1 reported patient
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Rod-cone dystrophyHPOHP:0000510
- 1 of 1 reported patient
- Visual impairmentHPOHP:0000505
- 0 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNAT1HGNC:4393
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2017
Where it sits
Other names
2 names
Resolves to: congenital stationary night blindness 1G
- Also called
- congenital stationary night blindness type 1GCSNB1G