Treatment and precautions for albinism
It's not always easy to diagnose the exact type of albinism a person has; there are two tests available that can identify only two types of the condition. Recently, a blood test has been developed that can identify carriers of the gene for some types of albinism; a similar test during amniocentesis can diagnose some types of albinism in an unborn child. A chorionic villus
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sampling test during the fifth week of pregnancy may also reveal some types of albinism.
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. The "hairbulb pigmentation test" is used to identify carriers by incubating a piece of the person's hair in a solution of tyrosine, a substance in food which the body uses to make melanin. If the hair turns dark, it means the hair is making melanin (a "positive" test); light hair means there is no melanin. This test is the source of the names of two types of albinism: "ty-pos" and "ty-neg."
The tyrosinase test is more precise than the hairbulb pigmentation test. It measures the rate at which hair converts tyrosine into another chemical (DOPA), which is then made into pigment. The hair converts tyrosine with the help of a substance called "tyrosinase." In some types of albinism, tyrosinase doesn't do its job, and melanin production breaks down.
There is no treatment that can replace the lack of melanin that causes the symptoms of albinism. Doctors can only treat, not cure, the eye problems that often accompany the lack of skin color. Glasses are usually needed and can be tinted to ease pain from too much sunlight. There is no cure for involuntary eye movements (nystagmus), and treatments for focusing problems (surgery or contact lenses) are not effective in all cases.
Crossed eyes (strabismus) can be treated during infancy, using eye patches, surgery or medicine injections. Treatment may improve the appearance of the eye, but it can do nothing to cure the underlying condition.
Patients with albinism should avoid excessive exposure to the sun, especially between 10 a.m. and 2 p.m. 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. Sunburn is skin damage from exposure to ultraviolet light, which is a part of sunlight that is not visible to the human eye. Redness develops 2 to 6 hours after exposure to ultraviolet light, and sunburn may not turn completely red until as long as 24 hours after the exposure. As a result a sunburn can worsen after a person leaves the sun. Prolonged sun exposure in a person who does not tan well is associated with the development of skin cancer. This can be prevented with correct protection of the skin from the ultraviolet radiation of the sun.
Most children with albinism should function in a mainstream classroom environment, provided the school gives specific attention to their special needs for vision. Contact with the school system should begin well before kindergarten, since school systems provide preschool services to children with disabilities. Preschool evaluations allow parents and teachers to form an Individual Education Plan for the child. The use of Braille is not necessary, and, if a trial of Braille is given, children with albinism will read the dots visually. Children with albinism often prefer to read with a head tilt and usually hold the page close to the eyes. Occasionally it can be difficult to get them to use their glasses, as they do not notice significant improvement in their vision when glasses are used. Furthermore, use of glasses or books with large print can be difficult because of peer pressure. |
