What is Albinism?

Albinism is a recessively inherited condition affecting about one in 17,000 people. A person who inherits it usually inherits a recessive gene for the condition from each parent, though this is not the case in ocular albinism. The condition, though often fatal in other animals, has almost no impact on life expectancy or overall health in humans, but does affect vision to varying degrees.

Those affected by albinism have hypopigmentation, which can affect either the eyes alone (ocular); or the skin, eyes and hair (oculocutaneous). Hypopigmentation means that the affected person does not produce enough melanin, the chemical that is responsible for hair, eye and skin color. Within these two subsets, there is variation in the amount of pigmentation a person may have, so that people with this condition don't always have the same color or appearance.

Ocular albinism can significantly affect vision because the development of the retina is often affected. This type seems to occur mostly in males. The eyes are very light blue or violet in color. They are not, as is often believed, completely white.

Effects on vision vary, but can include near-sightedness or far-sightedness. Nystagmus, in which the eyes move rapidly back and forth, can also occur. Lazy eye or crossed eyes may be the primary result of the condition.

Ocular albinism can also lead to sensitivity to light, and in some cases, results in legal blindness. Treatment focuses on repairing or reducing the effects of various ocular conditions. Most treatment is palliative, especially when involving light sensitivity, such as wearing high quality sunglasses when outside. Vision problems, when possible, are addressed with glasses, or with training of the eye for lazy eye.

In oculocutaneous albinism, not only the eyes but also the skin and hair are very light. Skin can appear white. Hair is blonde, or sometimes red. Vision conditions such as those associated with ocular albinism can be present.

Degree of pigmentation is classed into types. Type 1 produces virtually no pigment. Type 2 produces some pigment. Therefore, all people with this condition do not look alike.

The most important preventative care for those with hypopigmentation is to palliate vision problems and to use sunscreen of at least 20 SPF when outside. Though some people with Type 2 may be able to tan, the lack of melanin in both types can later lead to an increased risk of skin cancer. This, in part, has been responsible for the belief that albinism shortens life span. In places where sunscreen is not available, it often results in fatal melanoma.

One final type exists which does pose significant threat to health. Hermansky-Pudlak syndrome is a form that can cause excessive bleeding, lung disease and bowel disease. If a child has albinism, parents should be vigilant and talk to a pediatrician if they note abnormal bleeding or bruising.

In most cases, though, the most significant factors stemming from albinism are psychosocial. Prejudice exists toward anything or anyone different, and may be particularly difficult in nations where most are dark skinned. False beliefs in some cultures include that albinism causes sterility, or that a person’s lack of pigmentation means he or she is cursed. Care should be taken to disseminate the correct information about this condition, so that social stigma can be eradicated.