Albinism (from Latin: albus=white) occurs when one of several genetic defects makes the body unable to produce or distribute melanin. Melanin is a natural substance that gives color to your hair, skin and iris of the eye. The defects may be passed down through families.
Most people with albinism are sensitive to sun exposure and are at increased risk of developing skin cancer. A person with albinism will have one of the following symptoms: absence of color in the hair, skin, or iris of the eye, lighter-than-normal skin and hair, patchy, missing skin color.
There are several types of albinism. Type one albinism is caused by defects that affect production of the pigment, melanin. Type two albinism is due to a defect in the "P" gene. People with type two have slight coloring at birth. The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color, as well as vision problems. Another type of albinism, called ocular albinism type one, affects only the eyes. The person's skin and eye colors are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).
Also, melanin plays a role in the development of certain optical nerves. These eye related symptoms are associated with albinism; crossed eyes (strabismus), light sensitivity (photophobia), rapid eye movements (nystagmus), vision problems, or functional blindness.
There is no cure for albinism. The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder. Treatment involves protecting the skin and eyes from the sun, reduce sunburn risk by avoiding the sun, using sunscreen and covering up completely with clothing when exposed to the sun. Sunscreen should have a high sun protection factor (SPF). Sunglasses (UV protected) may relieve light sensitivity. Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).
Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease.
Your doctor may also diagnose the condition based on the appearance of your skin, hair and eyes. An ophthalmologist should perform a electroretinogram test, which can reveal vision problems related to albinism. A visual evoked potentials test can be very useful when the diagnosis is uncertain.
Albinism does not usually affect lifespan. People with albinism may be limited in their activities because they can't tolerate the sun. Genetic counseling is also important because albinism is inherited. People with a family history of albinism or hypopigmentation should consider genetic counseling. Call your health care provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also, call if you notice any skin changes that might be an early sign of skin cancer.
Sources:
http://www.albinism.org/
http://en.wikipedia.org/wiki/Albinism