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Albinism

Alternative Names: Hypopigmentation; Oculocutaneous albinism; Ocular albinism Symptoms: For those with albinism, one of the following will be present: Absence of pigment from the hair, skin, or iris of eyes Patchy absence of pigment (skin color, patchy) Lighter than normal skin and hair Text Continues Below Many forms of albinism have some of the following possible symptoms: Rapid eye movements (nystagmus) Strabismus (eyes not tracking properly) Photophobia (avoidance of light because of discomfort) Decreased visual acuity or even functional blindness Signs and tests: The most accurate way to determine albinism and the specific type is genetic testing. This is helpful only in families with albinism and is not useful for the general population. A small blood sample is obtained from the affected individual and the parents and genetic analysis of the DNA code is performed to identify the affected genes. The disorder may also be diagnosed based on the appearance of the skin, hair, and eyes. It is very helpful for an ophthalmologist to perform a complete examination of anyone with albinism. A electroretinogram test, to determine brain waves produced by light shined in the eye, can reveal "abnormal wiring" of the visual system in ocular forms of albinism.

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