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Albinism is caused by a mutation in one of several genes. Each of these genes provides instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin and eyes. A mutation may result in no melanin at all or a significant decline in the amount of melanin.
In some types of albinism, a person must inherit two copies of a mutated gene — one from each parent — in order to have albinism (recessive inheritance).
Symptoms
Skin, hair, and eye color. However, all people with the disorder experience vision problems.
Treatment
Because albinism is a genetic disorder, treatment is limited. But getting proper eye care and monitoring skin for signs of abnormalities are especially important
Diagnosis
A complete diagnostic work-up for albinism includes a:
Physical exam
Description of changes in pigmentation
Thorough exam of the eyes
Comparison of your child's pigmentation to that of other family members
Despite visual handicaps and abnormal optic nerve pathways, children with albinism are developmentally normal.
Fewer than 20,000 US cases per year
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