Oguchi disease
Findings
No curated finding names Oguchi disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon.
Definition from the Mondo Disease Ontology (MONDO:0019152), read 2026-09-29. CC BY 4.0.
Features
11 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
- Very frequent (80% to 99% of cases)
- ERG: Reduced dark-adapted b-wave amplitudeHPOHP:0007984
- Very frequent (80% to 99% of cases)
- Mizuo phenomenonHPO · MondoHP:0030824
- Very frequent (80% to 99% of cases)
- Abnormality of refractionHPOHP:0000539
- Occasional (5% to 29% of cases)
- Macular degenerationHPOHP:0000608
- Occasional (5% to 29% of cases)
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
- DiplopiaHPOHP:0000651
- Very rare (1% to 4% of cases)
- NystagmusHPOHP:0000639
- Very rare (1% to 4% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Very rare (1% to 4% of cases)
- StrabismusHPOHP:0000486
- Very rare (1% to 4% of cases)
- Visual impairmentHPOHP:0000505
- Very rare (1% to 4% of cases)
Reported absent (2)
- DyschromatopsiaHPOHP:0007641
- Visual field defectHPOHP:0001123
Genes
2 genes
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.
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: Oguchi disease
- Also called
- congenital stationary night blindness, Oguchi typeOguchi syndrome