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Pathophysiology It is also called as achromia, achromasia, or achromatosis. Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no colour. Albinism is also associated with vision problems. Albinism is caused by a defect in one of several genes that produce or distribute melanin (natural pigment).
An ophthalmologist may perform an electroretinogram, which is a test that can reveal vision problems related to albinism. Because albinism is a genetic disorder, treatment is limited.Genetic testing can give 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. Doctor may also diagnose the condition based on the appearance of yourskin, hair, and eyes.
According to the National Organization for Albinism and Hypopigmentation (NOAH), approximately one in 12,000 people have a form of albinism.