congenital stationary night blindness 1C
Findings
No curated finding names congenital stationary night blindness 1C 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 TRPM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013183), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Abnormal electroretinogramHPOHP:0000512
- 1 of 1 reported patient
- Early-onset non-progressive night blindnessHPOHP:0007642
- 6 of 6 reported patients
- Reduced visual acuityHPOHP:0007663
- 6 of 6 reported patients
- MyopiaHPOHP:0000545
- 5 of 6 reported patients
- NystagmusHPOHP:0000639
- 4 of 6 reported patients
- Dry skinHPOHP:0000958
- 3 of 6 reported patients
- StrabismusHPOHP:0000486
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.
- TRPM1HGNC:7146
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: congenital stationary night blindness 1C
- Also called
- congenital stationary night blindness caused by mutation in TRPM1congenital stationary night blindness type 1CCSNB1Cnight blindness, congenital stationary (complete), 1C, autosomal recessiveTRPM1 congenital stationary night blindness