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  • Usher Syndrome

    Definition

    Usher syndrome is a rare inherited disorder that involves loss of hearing and sight. Hearing loss is usually present at birth or soon after. It is due to the inability of the auditory nerves to send sensory input to the brain. It is called sensorineural hearing loss.
    The vision loss, called retinitis pigmentosa (RP), usually happens after after age ten. RP is a deterioration of the retina. The retina is a layer of light-sensitive tissue that lines the back of the eye. It changes visual images into nerve impulses in the brain that allow us to see. RP slowly gets worse over time.
    Nerve and Retina of the Eye
    Normal Anatomy of the Eye
    Copyright © Nucleus Medical Media, Inc.
    Three types of Usher syndrome have been identified: types I, II, and III. The age of onset and severity of symptoms separate the different types.

    Causes

    Usher syndrome is caused by a genetic mutation. A child must inherit one defective gene from each parent in order to develop Usher syndrome. If a child inherits one defective gene, he or she will be a carrier and will not have any symptoms. It is not clear what causes the mutation in the gene.

    Risk Factors

    A risk factor is something that increases your chance of getting a disease or condition. The only known risk factor for Usher syndrome is having parents with the disorder and/or parents who carry the genes for the disorder. If both parents carry the abnormal gene, you have a 25% chance of inheriting both of these abnormal genes and developing Usher syndrome.

    Symptoms

    The main symptoms of Usher syndrome are hearing and vision loss. Psychological or behavioral disorders may occur before vision loss. Some people also have balance problems due to inner ear problems.
    RP limits a person’s ability to see in dim light or the dark (night blindness). It also causes a person to lose peripheral (side) vision slowly over time. Eventually, any vision that is left is only in a small, tunnel-shaped area. Almost everyone with RP becomes legally blind. There is no way of knowing when or how quickly a person will lose vision.
    Symptoms and characteristics of each type include the following:
      Type I
      • Deaf at birth and receives little or no benefit from hearing aids
      • Severe balance problems
      • Slow to sit without support
      • Rarely learn to walk before age 18 months
      • RP begins by age 10 with difficulty seeing at night, and quickly changes to blindness
      Type II
      • Born with moderate to severe hearing loss, and can benefit from hearing aids
      • No balance problems
      • RP begins in the teenage years
      Type III
      • Born with normal hearing that gets worse in the teenage years and leads to deafness by mid to late adulthood
      • Born with near-normal balance
      • RP begins in the early teenage years as night blindness, and leads to blindness by mid-adulthood

    Diagnosis

    The doctor will ask about symptoms and medical history. A physical exam will be done. Hearing loss is determined with standard hearing tests. Balance problems can be detected with a test called electronystagmography (ENG). In this test, the doctor flushes the ears with warm and then cool water. This causes nystagmus, which is rapid eye movements that can help the doctor detect a balance disorder.
    An eye doctor will perform an eye exam, which will likely include the following:
    • Visual field test to check side vision
    • Test to check for ability to adapt to seeing in the dark
    • Test to check sensitivity to color and contrast
    If any problems are found on these tests, an electroretinography (ERG) is done. This test confirms a diagnosis of RP. It measures the electricity given off by the nerves in the retina. The test is done while wearing special contact lenses and looking at a flashing light.

    Treatment

    There is no cure for Usher syndrome. However, clinical trials are beginning using nutritional therapies and encapsulated cell technologies. The best treatment is to identify the disorder as early as possible and begin educational programs and services right away. This helps reduce the communication and learning problems that can result from hearing and vision loss.
    The specific programs and services depend on the severity of the hearing, vision, and balance problems and the person's age and abilities. Options include:
    • Hearing aids
    • Assistive listening devices
    • Cochlear implant —a small device surgically put under the skin behind the ear to give deaf people some ability to hear
    • Adjustment and career counseling
    • Training to help with balance and movement
    • Low vision services
    • Communications training
    • Skills in living independently

    Prevention

    Currently, there is no known way to prevent Usher syndrome.

    RESOURCES

    National Eye Institute http://www.nei.nih.gov/

    National Institute on Deafness and Other Communication Disorders http://www.nidcd.nih.gov/

    The Megan Foundation http://www.ushersyndromefoundation.org/

    CANADIAN RESOURCES

    Alberta Health and Wellness http://www.health.gov.ab.ca/

    The Canadian National Institute for the Blind http://www.cnib.ca

    References

    Dammeyer J. Children with Usher syndrome: Mental and behavioral disorders. Behav Brain Funct . 2012; 8:16.

    Usher syndrome. Boys Town National Research Hospital website. Available at: http://www.boystownhospital.org/research/molecularstudies/pages/ushersyndrome.aspx . Accessed December 27, 2012.

    Usher syndrome. National Institute on Deafness and Other Communication Disorders website. Available at: www.nidcd.nih.gov/health/hearing/pages/usher.aspx . Updated February 2008. Accessed December 27, 2012.

    What is Usher syndrome? Foundation Fighting Blindness website. Available at: http://www.blindness.org/index.php?option=com%5Fcontent&view=article&id=56&Itemid=81 . Accessed December 27, 2012.

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