Definition Albinism refers to a group of disorders that are present at birth. It is characterised by a decrease or lack of colour in the skin, hair, and eyes.
What is going on in the body? This is a group of genetic defects that cause decreased colour ("pigmentation") to occur. This generally occurs in the skin and hair and results in very light skin tone and blond-white hair. It may also affect the eyes, creating an almost clear iris (the coloured part of the eye). It also causes the eyes to be much more sensitive to light. Other eye problems may include nystagmus (rapid, uncontrolled eye movement) and the need for glasses.
What are the signs and symptoms of the disease? Symptoms may include:
very light skin colour
blondish, white coloured hair
pink eye colour
eyes that are sensitive to light
tendency to develop sunburns very quickly
vision problems that require glasses
What are the causes and risks of the disease? This is an inherited disorder.
How is the disease diagnosed? Albinism is diagnosed by a skin examination and a detailed eye examination by an eye doctor, or ophthalmologist.
What are the long-term effects of the disease? People with albinism have a much higher risk of skin cancer because they lack a protective pigment in the skin.
What are the risks to others? Because albinism is a genetic disorder, a person may pass the trait on to his or her children.
What are the treatments for the disease?
careful sun protection
appropriate eye care
What are the side effects of the treatments? The treatments used do not have side effects. Rarely, a person may have an allergy to a certain sunscreen lotion.
What happens after treatment for the disease? This is a lifelong condition that cannot be cured.
How is the disease monitored? Careful skin examination performed by a doctor should be done periodically to check for skin cancer.
Author: Lynn West, MD Reviewer: HealthAnswers Australia Medical Review Panel Editor: Dr David Taylor, Chief Medical Officer HealthAnswers Australia Last Updated: 1/10/2001 Contributors Potential conflict of interest information for reviewers available on request
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