congenital stationary night blindness autosomal dominant 2
Findings
No curated finding names congenital stationary night blindness autosomal dominant 2 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 PDE6B gene.
Definition from the Mondo Disease Ontology (MONDO:0008099), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Moderate myopiaHPOHP:0031624
- 1 of 1 reported patient
- Abnormal fundus morphologyHPOHP:0001098
- 0 of 1 reported patient
- Reduced visual acuityHPOHP:0007663
- 0 of 1 reported patient
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.
- PDE6BHGNC:8786
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
5 names
Resolves to: congenital stationary night blindness autosomal dominant 2
- Also called
- congenital stationary night blindness autosomal dominant type 2congenital stationary night blindness caused by mutation in PDE6BCSNBAD2night blindness, congenital stationary, autosomal dominant type 2PDE6B congenital stationary night blindness