Table of Contents

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. 

What are the treatments for X-linked incomplete achromatopsia?

There is no cure for this condition, but visual aids may be helpful for affected individuals. 

Where can I find out more about X-linked incomplete achromatopsia?

X-Linked Incomplete Achromatopsia Articles