Blue cone monochromatism
ORPHA:16· ICD-10 H53.5
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.
- Prevalence
- 1-9 / 100 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy