Albinism

Diagnosis

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 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.