congenital stationary night blindness 1D
Findings
No curated finding names congenital stationary night blindness 1D 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 SLC24A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013450), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
4 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
- 5 of 5 reported patients
- Attenuation of retinal blood vesselsHPOHP:0007843
- 0 of 4 reported patients
- Macular atrophyHPOHP:0007401
- 0 of 4 reported patients
- Pigmentary retinopathyHPOHP:0000580
- 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.
- SLC24A1HGNC:10975
- 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 1D
- Also called
- congenital stationary night blindness caused by mutation in SLC24A1congenital stationary night blindness type 1DCSNB1Dnight blindness, congenital stationary (complete), 1D, autosomal recessiveSLC24A1 congenital stationary night blindness