Color Blindness Health Article

Definition

Color blindness is an abnormal condition characterized by the inability to clearly distinguish different colors of the spectrum. The difficulties can be mild to severe. It is a misleading term because people with color blindness are not blind. Rather, they tend to see colors in a limited range of hues; a rare few may not see colors at all.

Description

Normal color vision requires the use of specialized receptor cells called cones, which are located in the retina of the eye. There are three types of cones, termed red, blue, and green, which enable people to see a wide spectrum of colors. An abnormality, or deficiency, of any of the types of cones will result in abnormal color vision.

There are three basic variants of color blindness. Red/green color blindness is the most common deficiency, affecting 8% of Caucasian males and 0.5% of Caucasian females. The prevalence varies with culture.

Blue color blindness is an inability to distinguish both blue and yellow, which are seen as white or gray. It is quite rare and has equal prevalence in males and females. It is common for young children to have blue/green confusion that becomes less pronounced in adulthood. Blue color deficiency often appears in people who have physical disorders such as liver disease or diabetes mellitus.

A total inability to distinguish colors (achromatopsia) is exceedingly rare. These affected individuals view the world in shades of gray. They frequently have poor visual acuity and are extremely sensitive to light (photophobia), which causes them to squint in ordinary light.

Genetic profile

Red/green and blue color blindness appear to be located on at least two different gene locations. The majority of affected individuals are males. Females are carriers but are not normally affected. This indicates that the X chromosome is one of the locations for color blindness. Male offspring of females who carry the altered gene have a fifty-fifty chance of being color blind. The rare female that has red/green color blindness, or rarer still, blue color blindness, indicates there is an involvement of another gene. The location of this gene has not been identified.

Achromatopsia, the complete inability to distinguish color, is an autosomal recessive disease of the retina. This means that both parents have one copy of the altered gene but do not have the disease. Each of their children has a 25% chance of not having the gene, a 50% chance of having one altered gene (and, like the parents, being unaffected), and a 25% risk of having both the altered gene and the condition. In 1997, the achromatopsia gene was located on chromosome 2.