altered copy of genes that does not work correctly. The altered gene does not allow the body to make the usual amounts of a pigment called melanin.
Approximately one in 17,000 people have one of the types of albinism. About 18,000 people in the United States are affected 3. Albinism affects people from all races. The parents of most children with albinism have normal hair and eye color for their ethnic background, and do not have a family history of albinism 4.
Melanin is a dark compound that is called a photoprotective pigment. The major role of melanin pigment in the skin is to absorb the ultraviolet (UV) light that comes from the sun so that the skin is not damaged. Sun exposure normally produces a tan, which is an increase in melanin pigment in the skin. Many people with albinism do not have melanin pigment in their skin and do not tan with exposure to the sun. As a result, their skin is sensitive to the sunlight and they develop sunburn. In people with albinism, all other parts of the skin are normal even if there is no melanin in the skin.
Melanin pigment is important in other areas of the body, such as the eye and the brain, but it is not known what the melanin pigment does in these areas. Melanin pigment is present in the retina and the area of the retina called the fovea does not develop correctly if melanin pigment in not present in the retina during development. The other areas of the retina develop normally whether or not melanin pigment is present. The nerve connections between the retina and the brain are also altered if melanin pigment is not present in the retina during development. The iris has melanin pigment and this makes the iris opaque to light (no light goes through an opaque iris). Iris pigment in albinism is reduced, and the iris is translucent to light, but the iris develops and functions normally in albinism.
Melanin forms in a special cell called the melanocyte. This cell is found in the skin, in the...