Albinism is an inherited condition present at birth, characterized by a lack of pigment that normally gives color to the skin, hair, and eyes. It is a rare disorder and it occurs in fewer than five people per 100,000 in the United States and Europe. Other parts of the world have a much higher rate. Many types of albinism exist, all of which involve lack of pigment in varying degrees. The condition, which is found in all races, may be accompanied by eye problems and may lead to skin cancer later in life.
In most types of albinism, a child inherits flawed genes for making pigment from both parents. Because making pigment is complex, there are many genes that direct it. Every cell in the body contains a matched set of genes, one inherited from each parent. These genes act as a blueprint that guides the development of a fetus. Albinism is an inherited problem caused by a flaw in one or more of the genes that are responsible for the eyes and skin to make pigment. As a result, little or no pigment is made, and the child's skin, eyes and hair may be colorless.
It's also possible to inherit one normal gene and one albinism gene. In this case, the one normal gene provides enough information in its cellular blueprint to make some pigment, and the child will have normal skin and eye color. About one in 70 people are albinism carriers; that is, they have one flawed gene, but no symptoms. Carriers have a 50% percent chance of passing the albinism gene to their child. However, if both parents are carriers, there is a 1 in 4 chance for each of their children to have albinism.
Although people with albinism may experience eye problems, one of the myths about albinism is that it causes people to have pink or red eyes. In fact, people with albinism can have irises varying from light gray or blue to brown. (The iris is the colored portion of the eye.) If people with albinism seem to have reddish eyes, it's because light is being reflected from the back of the eye (retina) in much the same way as happens when people are photographed with an electronic flash.
People with albinism may be very far-sighted or near-sighted, and may have other defects in the curvature of the lens of the eye (astigmatism) that cause images to appear unfocused. Another potential problem is nystagmus, a constant, involuntary movement of the eyeball. It may be difficult for some people with albinism to coordinate the eyes in fixing and tracking objects, which may lead to an appearance of having crossed eyes (strabismus). Their eyes may be very sensitive to light because their irises allow too much light to enter their eyes.
In addition to the characteristically light skin and eye problems, people with a rare form of albinism called Hermansky-Pudlak Syndrome (HPS) also have a greater tendency to have bleeding disorders, inflammation of the large bowel (colitis), lung (pulmonary) disease, and kidney (renal) problems.
It's not always easy to diagnose the exact type of albinism a person has. Recently, a blood test has been developed that can identify carriers of the gene for some types of albinism. Similar tests during pregnancy can diagnose some types of albinism in an unborn child. The specific type of albinism a person has can be determined by taking a good family history and examining the patient and several close relatives.
There is no treatment to replace the lack of pigment caused by albinism. Also, doctors can only treat, not cure, eye problems. Glasses are usually needed and can be tinted to ease pain from too much sunlight. There is no cure for nystagmus, and treatments for focusing problems (surgery or contact lenses) are not effective in all cases. Crossed eyes can be treated during infancy, using eye patches, surgery or medicine injections.
Patients with albinism should avoid excessive exposure to the sun. If exposure can't be avoided, they should use UVA-UVB sunblocks with an SPF of at least 20. Taking beta-carotene may help provide some skin color, although it doesn't protect against sun exposure.
In the United States, people with this condition can expect to have a normal lifespan. People with albinism may experience some social problems because of a lack of understanding on the part of others.
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