Albinism

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Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention | Organizations

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Definition

Albinism is a group of inherited gene disorders. These disorders result in the body not producing enough (or any) of the pigment melanin. This is a pigment that:

• Gives color to the skin, hair, and eyes
• Protects the skin and eyes from the sun’s damaging ultraviolet (UV) light
• Helps in the development of normal vision

Causes

Albinism occurs when a child inherits certain altered genes from his or her parents.

Risk Factors

A risk factor is something that increases your chances of getting a disease or condition. Albinism is a hereditary disorder. Therefore, people at risk of inheriting albinism are:

• Children of parents who have albinism
• Children of parents who do not have albinism, but carry the altered genes that cause this disorder

Symptoms

The symptoms of albinism depend on the specific type of albinism one has. Some types affect the skin, hair, and eyes. Other types affect only the eyes or only the skin.

Symptoms may include:

• Eye problems, such as:
  • Poor vision (which cannot be fully corrected with glasses or contacts)
  • In some cases, functional blindness
  • Nystagmus – irregular, rapid eye movement
  • Crossed eyes or “lazy” eye
  • Photophobia – sensitivity to bright lights or glare
  • Strabismus – difficulty of eyes tracking
• Skin problems, including:
  • Little or no pigmentation (resulting in extremely light or white skin)
  • Patches of low pigmentation (resulting in patches of extremely light or white skin)
  • Extreme sensitivity to sunburn
  • Very high susceptibility to skin cancer
• Hair problems, including:
  • White hair
  • Portions of the hair (often the forelock) being white
• Certain types of albinism can cause other symptoms, including:
  • Bleeding disorders
  • Lung disease
  • Bowel disease
  • Infections
  • Hearing loss
  • Nervous system disorders

Diagnosis

In many types of albinism, the disorder can be diagnosed by observation of major or total absence of pigmentation. Because most types of albinism affect the eyes, certain eye tests (including an electroretinogram) are used to help confirm the diagnosis. For many types of albinism, DNA genetic testing can also be used to confirm the diagnosis.

Treatment

There is no cure for albinism. Treatment is aimed at preventing or limiting symptoms. In some cases, specific treatment for certain symptoms is needed.

Preventive Treatment

Preventive treatment may include:

• To protect the skin:
  • Avoid exposure to the sun as much as possible
  • Wear sunscreen with high SPF (sun protection factor)
  • Cover as much skin as possible with clothing when exposed to the sun
• To protect the eyes:
  • Wear sunglasses with UV protection whenever exposed to the sun

Specific Treatment of Symptoms

Specific treatment of symptoms for albinism may include:

• For eyes:
  • Glasses, contacts, and/or optical aids to help improve vision
  • Surgery to correct certain eye problems, including crossed eyes or “lazy” eye
  • Visual aids (in the classroom) to help children with albinism
• For skin:
  • Surgery to treat and/or remove skin cancer, if necessary

Prevention

There is no known way to prevent albinism. If you have albinism or have a family history of the disorder, you can talk to a genetic counselor when deciding to have children.

Organizations

National Organization for Albinism and Hypopigmentation (NOAH)
http://www.albinism.org

National Library of Medicine.
http://www.nlm.nih.gov

SOURCES:

National Organization for Albinism and Hypopigmentation (NOAH)

National Library of Medicine

The Merck Manual of Medical Information. Simon and Schuster, Inc., 2000.

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Last reviewed June 2002 by Medical Review Board