/blue cone monochromacy

blue cone monochromacy

Rare Disease

MONDO:0010563

Also Known As

S cone monochromacyS cone monochromatismX-linked incomplete achromatopsiaatypical X-linked achromatopsiablue cone monochromacyblue cone monochromacy, X-linked recessiveblue cone monochromatismcolor blindness, blue monocone monochromatic typecolour blindness, blue monocone monochromatic typeBCMCBBMX-chromosome-linked achromatopsiaX-linked achromatopsia incompleteachromatopsia incomplete X-linkedcolor blindness blue mono cone monochromatic typecolorblindness, blue-Mono-cone-monochromatic typecolour blindness blue mono cone monochromatic typecone dystrophy 5, X-linkedincomplete achromatopsia X-linked

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.