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 (deuteranopia) is the most common deficiency, affecting 8% of Caucasian males and 0.5% of Caucasian females. The prevalence varies with culture.
Blue color blindness (protanopia) is an inability to distinguish both blue and yellow, which are seen as white or gray. Protanopia 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. As of 2001, 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.
Demographics
Researchers studying red/green color blindness in the United Kingdom reported an average prevalence of only 4.7% in one group. Only 1% of Eskimo males are color blind. Approximately 3% of boys from Saudi Arabia and 4% from India were found to have deficient color vision. Red/green color blindness may slightly increase an affected person's chances of contracting leprosy. Pre-term infants exhibit an increased prevalence of blue color blindness. Achromatopsia has a prevalence of about one in 33,000 in the United States and affects males and females equally.
The inability to correctly identify colors is the only sign of color blindness. It is important to note that people with red/green or blue varieties of color blindness use other cues such as color saturation and object shape or location to distinguish colors. They can often distinguish red or green if they can visually compare the colors. However, most have difficulty accurately identifying colors without any other references. Most people with any impairment in color vision learn colors, as do other young children. These individuals often reach adolescence before their visual deficiency is identified.
Diagnosis
There are several tests available to identify problems associated with color vision. The most commonly used is
the American Optical/Hardy, Rand, and Ritter Pseudoisochromatic test. It is composed of several discs filled with colored dots of different sizes and colors. A person with normal color vision looking at a test item sees a number that is clearly located somewhere in the center of a circle of variously colored dots. A color-blind person is not able to distinguish the number.
The Ishihara test is comprised of eight plates that are similar to the American Optical Pseudoisochromatic test plates. The individual being tested looks for numbers among the various colored dots on each test plate. Some plates distinguish between red/green and blue color blindness. Individuals with normal color vision perceive one number. Those with red/green color deficiency see a different number. Those with blue color vision see yet a different number.
A third analytical tool is the Titmus II Vision Tester Color Perception test. The subject looks into a stereoscopic machine. The test stimulus most often used in professional offices contains six different designs or numbers on a black background, framed in a yellow border. Titmus II can test one eye at a time. However, its value is limited because it can only identify red/green deficiencies and is not highly accurate.
Treatment and management
There is no treatment or cure for color blindness. Most color vision deficient persons compensate well for their abnormality and usually rely on color cues and details that are not consciously evident to persons with typical color vision.
Inherited color blindness cannot be prevented. In the case of some types of acquired color deficiency, if the cause of the problem is removed, the condition may improve with time. But for most people with acquired color blindness, the damage is usually permanent.
Prognosis
Color blindness that is inherited is present in both eyes and remains constant over an individual's entire life. Some cases of acquired color vision loss are not severe, may appear in only one eye, and can last for only a short time. Other cases tend to be progressive, becoming worse with time.
BOOKS
Rosenthal, Odeda, and Robert H. Phillips. Coping with ColorBlindness. Garden City Park, NY: Avery Publishing Group, 1997.
Sacks, Oliver. The Island of the Colorblind. New York, Knopf, 1997.
Wiggs, Janey L. Color Vision. In: Ophthalmology, edited by Myron Yanoff and Jay S. Duker. St. Louis, Mosby, 2000, pp. 8-10.
PERIODICALS
Arbour, N. C., et al. "Homozygosity Mapping of Achromatopsia to Chromosome 2 Using DNA Pooling." Human Molecular Genetics 1997 May; 6(5): 689-694.
Dobson, V., et al. "Color Vision Measured with Pseudoisochromatic Plates at Five-and-a-Half Years in Eyes of Children from the CRYO-ROP Study." Investigations in Ophthalmology and Visual Science 37 (12) (November 1996): 2467-2474.
Holroyd, E., Hall, D. M. "A Re-Appraisal of Screening for Colour Vision Impairments." Child Care Health Developments 23 (5) (September 1997): 391-398.
Osuobeni, E. P. "Prevalence of Congenital Red-Green Color Vision Defects in Arab Boys from Riyadh, Saudi Arabia." Ophthalmic Epidemiology 3 (3) (December 1996): 167-170.
National Society to Prevent Blindness. 500 East Remington Rd., Schaumburg, IL 60173. (708) 843-2020 or (800) 331-2020. <http://www.preventblindness.org>.
