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 50-50 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.

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.

Color blindness is sometimes acquired. Chronic illnesses that can lead to color blindness include Alzheimer's disease, diabetes mellitus, glaucoma, leukemia, liver disease, chronic alcoholism, macular degeneration, multiple sclerosis, Parkinson's disease, sickle cell anemia, and retinitis pigmentosa. Accidents or strokes that damage the retina or affect particular areas of the brain eye can lead to color blindness. Some medications such as antibiotics, barbiturates, anti-tuberculosis drugs, high blood pressure medications, and several medications used to treat nervous disorders and psychological problems may cause color blindness. Industrial or environmental chemicals such as carbon monoxide, carbon disulfide, fertilizers, styrene, and some containing lead can cause loss of color vision. Occasionally, changes can occur in the affected person's capacity to see colors after age 60.