Albinism

Albinism is a condition in which pigment in the body is made in abnormally low amounts due to mutations (differences from normal) in one of the pigmentation genes. Normal function of these genes is needed in utero for proper development of the fovea and macula, tiny structures inside the eye which are responsible for detailed visual acuity. There are many genetic subtypes of albinism, and the lack of pigment varies from essentially no pigment to just a very mild decrease. Likewise, while the vast majority of people with albinism have poor visual acuity (the ability to read and see faces, especially at a distance), there is a wide range from close to normal to legally blind. Even people with very poor acuity due to albinism usually have good peripheral (side) vision and color vision. Many patients with albinism have nystagmus, an involuntary movement of the eyes which happens in many people who have poor vision since childhood. People with albinism have an increased risk of skin cancer, so sun protection is important. People with albinism may benefit from glasses or contact lenses, and from eye muscle surgery in some cases. An evaluation by a low vision specialist is important because there are many types of technology that allow people with albinism to function well in school, work and other activities. Many people with albinism can get a driver's license, but it may require evaluation by a low vision specialist. There is a great deal of research going on to understand the reduced visual acuity in albinism.

Genereviews: OCA1
Genereviews: OCA2
Vision for Tomorrow
National Organization for Albinism and Hypopigmentation
Research to Prevent Blindness
The John and Marcia Carver Nonprofit Genetic Testing Laboratory
Vision of Children Foundation