St. Luke's Hospital
Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
Find a Physician Payment Options Locations & Directions
Follow us on: facebook twitter Mobile Email Page Email Page Print Page Print Page Increase Font Size Decrease Font Size Font Size
America's 50 Best Hospitals
Meet the Doctor
Spirit of Women
Community Health Needs Assessment
Home > Health Information

Multimedia Encyclopedia

    Print-Friendly
    Bookmarks

    Albinism

    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.

    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.

    There are two main types of albinism:

    • Type 1 albinism is caused by defects that affect production of the pigment, melanin.
    • Type 2 albinism is due to a defect in the "P" gene. People with this type have slight coloring at birth.

    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 albism, 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 should perform a electroretinogram test, which 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 -- http://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.

    References

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

    BACK TO TOP

    • Melanin

      illustration

      • Melanin

        illustration

      Review Date: 11/14/2011

      Reviewed By: Chad Haldeman-Englert, MD, 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, Medical Director, A.D.A.M., Inc.

      The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
      adam.com

      A.D.A.M. content is best viewed in IE9 or above, Fire Fox and chrome browser.


      Back  |  Top
      About Us
      Contact Us
      History
      Mission
      Locations & Directions
      Quality Reports
      Annual Reports
      Honors & Awards
      Community Health Needs
      Assessment

      Newsroom
      Services
      Brain & Spine
      Cancer
      Heart
      Maternity
      Orthopedics
      Pulmonary
      Sleep Medicine
      Urgent Care
      Women's Services
      All Services
      Patients & Visitors
      Locations & Directions
      Find a Physician
      Tour St. Luke's
      Patient & Visitor Information
      Contact Us
      Payment Options
      Financial Assistance
      Send a Card
      Mammogram Appointments
      Health Tools
      My Personal Health
      mystlukes
      Spirit of Women
      Health Information & Tools
      Clinical Trials
      Health Risk Assessments
      Employer Programs -
      Passport to Wellness

      Classes & Events
      Classes & Events
      Spirit of Women
      Donate & Volunteer
      Giving Opportunities
      Volunteer
      Physicians & Employees
      For Physicians
      Remote Access
      Medical Residency Information
      Pharmacy Residency Information
      Physician CPOE Training
      Careers
      Careers
      St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
      Copyright © St. Luke's Hospital Website Terms and Conditions  |  Privacy Policy  |  Patient Notice of Privacy Policies PDF Sitemap St. Luke's Mobile