Color vision deficiency
Color vision deficiency, often called color blindness, is a group of conditions that impair the perception of color without necessarily affecting visual acuity.
Overview
Color vision deficiency affects how individuals perceive color. The most common forms are red-green defects, while blue-yellow defects are rarer. A more severe form, blue cone monochromacy, results in significantly reduced visual acuity and color perception, often accompanied by light sensitivity and involuntary eye movements.
Types and Causes
The condition is caused by mutations in the OPN1LW, OPN1MW, and OPN1SW genes, which provide instructions for making opsin pigments in the cone cells of the retina.
- Red-green defects: Caused by genetic changes in OPN1LW or OPN1MW, leading to an absence or malfunction of L (long-wavelength) or M (middle-wavelength) cones.
- Blue-yellow defects: Caused by mutations in OPN1SW, leading to the destruction or dysfunction of S (short-wavelength) cones.
- Blue cone monochromacy: Occurs when both L and M cones fail to function, leaving only S cones functional.
Some deficiencies are acquired rather than inherited, resulting from eye diseases, optic nerve damage, or exposure to certain drugs or chemicals.
Inheritance
Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. Because these genes are on the X chromosome, males are affected much more frequently than females. Blue-yellow color vision defects are inherited in an autosomal dominant pattern, affecting males and females equally.