X-Linked Incomplete Achromatopsia

What is X-linked incomplete achromatopsia?

X-linked incomplete achromatopsia, also known as blue cone monochromatism (BCM), is a rare inherited vision disorder. Affected individuals have dysfunctioning cones, which are the cells in the eyes responsible for color. Humans have three cones, each of which responds to a certain color (blue, green, and red). In those with BCM, only the blue cone works properly.

What are the symptoms of X-linked incomplete achromatopsia?

Signs and symptoms of this condition include:

Sensitivity to light
Impaired color vision
Nearsightedness
Low visual acuity
Fast and uncontrollable eye movements (nystagmus)

What causes X-linked incomplete achromatopsia?

One of two genes is mutated in this condition: either OPN1MW or OPN1LW. Regardless of which gene is impacted, they are both passed down in an X-linked recessive pattern.

How is X-linked incomplete achromatopsia diagnosed?

Doctors will begin to suspect this condition after noticing sensitivity to light, nystagmus, color blindness, and squinting. A family history of the condition is also a strong indicator of BCM. In regard to testing, doctors may utilize ERG testing, 100 Hue test, HHR test, and D-15 test. Psychophysical and electrophysiological testing may also be used.