Albinism

Albinism is a defect of melanin production. Melanin is a natural substance in the body that gives color to your hair, skin, and iris of the eye.

Causes

Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin .

Melanin

Melanin is a natural substance that gives color (pigment) to: HairSkinThe iris of the eye It is produced by cells in the skin called melanocytes. Mel...

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These defects may be passed down (inherited) through families.

The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color. They also have vision problems.

Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye color are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).

Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a change to a single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.

Symptoms

A person with albinism will have one of these symptoms:

• No color in the hair, skin, or iris of the eye
• Lighter than normal skin and hair
• Patches of missing skin color

Many forms of albinism are associated with the following symptoms:

• Crossed eyes
• Light sensitivity
• Rapid eye movements
• Vision problems, or functional blindness

  Blindness

  Blindness is a lack of vision. It may also refer to a loss of vision that cannot be corrected with glasses or contact lenses. Partial blindness mean...

  

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Exams and Tests

Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease.

Your health care provider may also diagnose the condition based on the appearance of your skin, hair, and eyes. An eye doctor called an ophthalmologist may perform an electroretinogram . This is a test that can reveal vision problems related to albinism. A test called a visual evoked potentials test can be very useful when the diagnosis is uncertain.

Electroretinogram

Electroretinography is a test to measure the electrical response of the eye's light-sensitive cells, called rods and cones. These cells are part of ...

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Treatment

The goal of treatment is to relieve symptoms. It will depend on how severe the disorder is.

Treatment involves protecting the skin and eyes from the sun. To do this:

• Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
• Use sunscreen with a high sun protection factor (SPF).
• Wear sunglasses (UV protected) to help relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements.

Support Groups

A support group can be helpful for emotional support and for giving and receiving practical advice.

National Organization for Albinism and Hypopigmentation -- www.albinism.org

Hermansky-Pudlak Syndrome Network -- www.hpsnetwork.org

Outlook (Prognosis)

Albinism does not usually affect lifespan. However, Hermansky-Pudlak syndrome can shorten a person's lifespan due to lung disease or bleeding problems.

People with albinism may be limited in their activities because they can't tolerate the sun.

Possible Complications

These complications can occur:

• Decreased vision, blindness
• Skin cancer

When to Contact a Medical Professional

Call your health care provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also call if you notice any skin changes that might be an early sign of skin cancer.

Prevention

Because albinism is inherited, genetic counseling is important. People with a family history of albinism or very light coloring should consider genetic counseling.

Very light coloring

Skin that has turned darker or lighter than normal is usually not a sign of a serious medical condition.

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