Genetic testing offers the most accurate way to diagnosis albinism; however a complete diagnostic workup for albinism should include a physical exam, a description of changes in pigmentation, a pigment history, and a thorough exam of the eyes. An ophthalmologist should preform an electroretinogram test, which can show vision problems related to albinism.
A pigment history is a way to compare the patient's pigmentation to a family members to see if the patient's appears to be lighter. The doctor may also ask the family about any changes that haven been noticed in the patient's hair, skin, or eye color.
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