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Albinism

An inherited condition in which there is inadequate production of the pigment that gives colour to skin, eyes, and hair

  • Present from birth
  • Due to an abnormal gene
  • Gender as a risk factor depends on the type
  • Lifestyle is not a significant factor

Albinism is a rare inherited disorder in which a baby is born with little or no colour in the skin, hair, and eyes or, more rarely, in the eyes only. An inborn error of metabolism, albinism is caused by a fault in an enzyme that is essential for the production of the pigment melanin. In most cases, albinism is due to an abnormal gene that is inherited in an autosomal recessive manner (see Gene disorders) and affects the skin, hair, and eyes. A less common type, in which the abnormal gene is inherited in an X-linked recessive manner from the mother, affects only males. In this type of albinism, only the eyes are affected by lack of melanin. Albinism affects about 1 in 17,000 babies.

What are the symptoms?

The symptoms depend on the amount of melanin that is produced and vary from mild to severe. They may include:

  • Unusual eye colour, ranging from pink to pale, watery blue.

  • Dislike of bright light.

  • Involuntary, jerky eye movements.

  • Severe visual impairment.

  • White hair and fair skin that does not tan normally.

Children with albinism are at increased risk of developing skin cancer in later life from exposure to sunlight.

Albinism

The iris of this eye is pink and the eyebrows and eyelashes are white, due to absence of the brown pigment melanin.

What might be done?

Albinism is usually diagnosed from the baby’s appearance at birth. If albinism is suspected, a blood test is performed to confirm that the enzyme is missing. There is no medical treatment for the condition. However, tinted lenses can be worn to help with the aversion to bright light, and visual impairment can be corrected with glasses or, when the child is older, with contact lenses. The doctor will also recommend the use of sunscreens and sunblocks and a hat to protect your child’s skin in bright sunlight. People with albinism have a normal life expectancy.

From the 2010 revision of the Complete Home Medical Guide © Dorling Kindersley Limited.

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