congenital stationary night blindness 1B
Findings
No curated finding names congenital stationary night blindness 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene.
Definition from the Mondo Disease Ontology (MONDO:0009758), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- Early-onset non-progressive night blindnessHPOHP:0007642
- 3 of 3 reported patients
- NyctalopiaHPOHP:0000662
- 3 of 3 reported patients
- MyopiaHPOHP:0000545
- 2 of 3 reported patients
- Spicular pigmentation of the retinaHPOHP:0007737
- 1 of 2 reported patients · Young adult onset
- Horizontal nystagmusHPOHP:0000666
- 1 of 3 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.
- GRM6HGNC:4598
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: congenital stationary night blindness 1B
- Also called
- congenital stationary night blindness caused by mutation in GRM6congenital stationary night blindness type 1BCSNB1BGRM6 congenital stationary night blindnessnight blindness, congenital stationary (complete), 1B, autosomal recessive