congenital stationary night blindness 2A
Findings
No curated finding names congenital stationary night blindness 2A 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 CACNA1F gene.
Definition from the Mondo Disease Ontology (MONDO:0010241), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
7 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.
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
- 7 of 7 reported patients
- Reduced visual acuityHPOHP:0007663
- 7 of 7 reported patients
- NystagmusHPOHP:0000639
- 4 of 7 reported patients
- ExotropiaHPOHP:0000577
- 2 of 7 reported patients
- Abnormal amplitude of light-adapted flicker electroretinogramHPOHP:0030479
- Early-onset non-progressive night blindnessHPOHP:0007642
- 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.
- CACNA1FHGNC:1393
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
Where it sits
Other names
5 names
Resolves to: congenital stationary night blindness 2A
- Also called
- CACNA1F congenital stationary night blindnesscongenital stationary night blindness caused by mutation in CACNA1Fcongenital stationary night blindness type 2ACSNB, incomplete, X-linkednight blindness, congenital stationary (incomplete), 2A, X-linked