congenital stationary night blindness 1E
Findings
No curated finding names congenital stationary night blindness 1E 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 GPR179 gene.
Definition from the Mondo Disease Ontology (MONDO:0013807), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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
- 7 of 7 reported patients
- NystagmusHPOHP:0000639
- 4 of 7 reported patients
- High myopiaHPOHP:0011003
- 2 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 7 reported patients
- StrabismusHPOHP:0000486
- 2 of 7 reported patients
- Visual impairmentHPOHP:0000505
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.
- GPR179HGNC:31371
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: congenital stationary night blindness 1E
- Also called
- congenital stationary night blindness caused by mutation in GPR179congenital stationary night blindness type 1ECSNB1EGPR179 congenital stationary night blindnessnight blindness, congenital stationary (complete), 1E, autosomal recessive