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What You Need To Know About Albinism

Introduction

Albinism is an inherited genetic disorder varying in severity and is characterized by the reduction or absence of the pigment melanin. Melanin is responsible for the color of the skin, hair, and eyes. Albinism primarily affects the hair, eyes, and skin. In general, but not always, people with albinism have lighter colored skin and hair than the other members of their family. However, regardless of skin or hair tone, people with albinism always have one problem or the other with their vision.

Causes and Risk Factors

•  Albinism is caused by a change in the genetic make-up of affected individuals. Depending on the mutation, melanin production can either be reduced or not produced causing the individual to have lighter skin and eyes.

•  The albinism gene is a recessive gene, meaning that for a child to have it, both parents must either be carriers or affected or one carrier and one affected.

•  If a child gets a copy of the gene from just one parent, he or she will only be a carrier but will not have symptoms of albinism – even if that parent is affected.

Symptoms

•  The primary symptoms of albinism can be split into the following four categories:

•  Lighter skin and hair colour

•  Eye colour ranging from blue to brown

•  Increased sensitivity to light on eyes and skin

•  Rapid, uncontrolled eye movements

•  Visual impairment – Shortsightedness, farsightedness, photophobia, astigmatism, refractive error

Diagnosis

Albinism is usually apparent, however, if necessary, the most reliable way to diagnose albinism is with genetic testing. A history of albinism within the family may also suggest albinism.

Treatment

•  There is no known cure for albinism, and albinism does not get worse with age. However, without adequate care and protection from sunlight, people with albinism are prone to developing skin cancers.

•  The treatment of albinism revolves around minimizing the symptoms and watching for changes.

•  Getting the right care for eye problems is essential, including prescription glasses, dark glasses to protect the eyes from the sun, and regular eye examinations.

•  It is also important to cover the skin with clothes and watch the skin for changes and to use sunblock for protection.

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