blue cone monochromacy
Findings
No curated finding names blue cone monochromacy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia.
Definition from the Mondo Disease Ontology (MONDO:0010563), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Blue cone monochromacyHPOHP:0007939
- Very frequent (80% to 99% of cases)
- Color vision defectHPOHP:0000551
- Frequent (30% to 79% of cases)
- Eccentric visual fixationHPOHP:0025549
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Reduced OCT-measured foveal thicknessHPOHP:0030619
- Frequent (30% to 79% of cases)
- Abnormal electroretinogramHPOHP:0000512
- Occasional (5% to 29% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Occasional (5% to 29% of cases)
- Corneal dystrophyHPOHP:0001131
- Occasional (5% to 29% of cases)
- HypermetropiaHPOHP:0000540
- Occasional (5% to 29% of cases)
- PhotophobiaHPOHP:0000613
- Occasional (5% to 29% of cases)
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
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
Other names
8 names
Resolves to: blue cone monochromacy
- Also called
- atypical X-linked achromatopsiablue cone monochromacy, X-linked recessiveblue cone monochromatismcolor blindness, blue monocone monochromatic typecolour blindness, blue monocone monochromatic typeS cone monochromacyS cone monochromatismX-linked incomplete achromatopsia