Blue-cone monochromacy

Blue cone monochromacy
Other namesX-linked achromatopsia
SpecialtyOphthalmology
Symptomspoor ability or inability to distinguish colours, poor visual acuity, nystagmus, hemeralopia
Usual onsetcongenital
Differential diagnosisincomplete achromatopsia
Treatmentdark lenses
Frequency1 in 100,000

Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.