Blue cone monochromatism

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Disease Overview

Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally.[12852] Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye).[12851][12852] Blue cone monochromatism is caused by mutations in either the OPN1LW or the OPN1MW gene(s) and is inherited in an X-linked manner.[12851][12853] There is no cure for this condition; however, there may be ways to manage the symptoms, such as using special glasses or contact lenses and low vision aids.[12851]


Synonyms

  • CBBM
  • BCM
  • Color blindness blue mono cone monochromatic type
  • X-chromosome-linked achromatopsia
  • Incomplete achromatopsia X-linked
  • X-linked achromatopsia incomplete
  • Achromatopsia incomplete X-linked

For more information, visit GARD.

National Organization for Rare Disorders