congenital stationary night blindness 1F
Findings
No curated finding names congenital stationary night blindness 1F 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 LRIT3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014026), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- Early-onset non-progressive night blindnessHPOHP:0007642
- 2 of 2 reported patients
- High myopiaHPOHP:0011003
- 2 of 2 reported patients
- NyctalopiaHPOHP:0000662
- 2 of 2 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 2 reported patients
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
- 1 of 2 reported patients
- Retinal perforationHPOHP:0011958
- 1 of 2 reported patients
- StrabismusHPO
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.
- HGNC:24783HGNC:24783
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: congenital stationary night blindness 1F
- Also called
- congenital stationary night blindness caused by mutation in LRIT3congenital stationary night blindness type 1FCSNB1FLRIT3 congenital stationary night blindnessnight blindness, congenital stationary (complete), 1F, autosomal recessive