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Albinism
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Albinism

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Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome

Albinism is a defect of melanin production that results in little or no color (pigment) in the skin, hair, and eyes.

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  • Causes

    Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye.

    The defects may be passed down 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, as well as vision problems.

    Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye colors 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 single gene. It can occur with a bleeding disorder, as well as with lung and bowel diseases.

    Other complex diseases may lead to loss of coloring in only a certain area (localized albinism). These conditions include:

    • Chediak-Higashi syndrome (lack of coloring all over the skin, but not complete)
    • Tuberous sclerosis (small areas without skin coloring )
    • Waardenburg syndrome (often a lock of hair that grows on the forehead, or no coloring in one or both irises)
  • Symptoms

    A person with albinism will have one of the following symptoms:

    • Absence of color in the hair, skin, or iris of the eye
    • Lighter than normal skin and hair
    • Patchy, missing skin color

    Many forms of albinism are associated with the following symptoms:

    • Crossed eyes (strabismus)
    • Light sensitivity (photophobia)
    • Rapid eye movements (nystagmus)
    • Vision problems, or functional blindness
  • 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 doctor may also diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist may perform an electroretinogram, which is a test that can reveal vision problems related to albinism. A visual evoked potentials test can be very useful when the diagnosis is uncertain.

  • Treatment

    The goal of treatment is to relieve symptoms. Treatment depends on the severity of the disorder.

    Treatment involves protecting the skin and eyes from the sun:

    • Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
    • Sunscreen should have a high sun protection factor (SPF).
    • Sunglasses (UV protected) may 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 (nystagmus).

  • Support Groups

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

    International Albinism Center -- //albinismdb.med.umn.edu

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

  • Outlook (Prognosis)

    Albinism does not usually affect lifespan. Hermansky-Pudlak syndrome can, however, shorten 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

    • 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 hypopigmentation should consider genetic counseling.

Related Information

  MelaninMetabolismChediak-Higashi sy...    

References

Morelli JG. Hypopigmented lesions. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 645.

Summer GS. Albinism: classification, clinical characteristics, and recent findings. Optom Vis Sci. 2009;86:659-662.

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Review Date: 10/29/2013  

Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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