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Albinism

An unusual, inherited disorder that is characterised by a lack of pigment, melanin, which gives colour to the hair, skin and eyes.

Oculocutaneous albinism (the most common type) is transmitted as an autosomal recessive trait. This genetic defect results in deficiency of a specific enzyme, and this deficiency interferes with the production of melanin in the affected areas.

In oculocutaneous albinism, the skin, hair and eyes are all affected. The skin ages prematurely and cannot tan. In addition, skin cancers may develop on areas of skin exposed to sun. Rarely, only the eyes are affected. There can be visual problems, including photophobia (intolerance to bright light), nystagmus (abnormal flickering movements), myopia (short-sightedness), and squint.

Glasses are likely to be needed from an early age, and tinted glasses help to reduce photophobia. If the skin is affected it should always be protected from the sun.


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