Albinism Support Group

Albinism (from Latin albus, meaning "white") is a lack of pigmentation in the eyes, skin and hair. Albinism is an inherited condition resulting from the combination of recessive alleles passed from both parents of an individual. This condition is known to affect mammals, fish, birds, reptiles, and amphibians. While the most common term for an individual affected by albinism is "albino", some prefer "person with albinism", because "albino" is sometimes used in a derogatory way. The gene which results in albinism prevents the body from making the usual amounts of the pigment melanin. Albinism used to be categorised as Tyrosinase positive or negative. In cases of Tyrosinase positive albinism, the enzyme tyrosinase is present but is unable to enter pigment cells to produce melanin. In tyrosinase negative cases, this enzyme is not produced. This classification has been rendered obsolete by recent research.

About 1 in 17,000 people have some type of albinism, although up to 1 in 75 are carriers.

There are many alterations of genes which are proven to be associated with albinism. All alterations, however, lead to an alteration of the melanin (pigment/coloring) production in the body. Melanin helps protect the skin from ultraviolet light coming from the sun (see human skin color for more information). Organisms with albinism lack this protective pigment in their skin, and can burn easily from exposure to the sun as a result. Lack of melanin in the eye also results in problems with vision unrelated to photosensitivity, which are discussed further below.

There are two main categories of albinism in humans: oculocutaneous and ocular. In ocular albinism, only the eyes lack pigment. In oculocutaneous albinism, pigment is missing from the hair, eyes, and skin. People who have ocular albinism have normal skin/hair color and many have normal eye color. People with oculocutaneous albinism can have no pigment to almost normal. Some may even tan.

The eyes of a person with albinism occasionally appear red due to the underlying blood vessels showing through where there is not enough pigment to cover them. In humans this is rarely the case, as a human eye is quite large and thus produces enough pigment to lend opacity to the eye. However, there are cases in which the eyes appear red or purple, depending on the amount of pigment present.

People with albinism are generally as healthy as the rest of their species, with growth and development occurring as normal. Many animals with albinism, however, lose their protective camouflage and are unable to conceal themselves from their predators or prey. The survivability rate of animals with albinism in the wild is usually quite low. The largest problem people with albinism face is social, as the condition is sometimes a source of teasing during adolescent years.

As albinism is a recessive gene, the chance of offspring with albinism resulting from the pairing of a creature with albinism with a creature without albinism is very low and is discussed below.

Albinism is a condition that cannot be "cured" or "treated" per se, but small things can be done to improve the quality of life for those affected. It is vital that people with albinism use sunscreen when exposed to sunlight to prevent premature skin aging or skin cancer. This poses a problem for those who cannot afford sunscreen, especially in countries with high exposure to sunlight, as in Africa. Special UV-proof clothing and swimsuits are available and are a good alternative to excessive use of sunscreen.

For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not provide fine binocular vision. In the case of esotropia or "crossed eyes," surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point). Nystagmus damping surgery can also be performed, to reduce the "shaking" of the eyes back and forth.

Glasses and low-visual aids such as magnifiers, large print materials or closed captioning, as well as bright but angled reading lights can help individuals with albinism, even if their vision cannot be corrected completely. Some people do well using bifocals which have a strong reading lens, prescription reading glasses, or contact lenses. Others use hand-held magnifiers or special small telescopes. Some use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that they can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses. Some states allow the use of bioptic telescopes for driving. (See also NOAH bulletin "Low Vision Aids".)

Although still disputed among the experts, many ophthalmologists recommend the use of glasses from early childhood on to allow the eyes the best development possible. Surgery is possible on the ocular muscles to decrease nystagmus, strabismus and common refractive errors, but especially with nystagmus surgery the effectiveness varies greatly and depends on individual circumstances.