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Definition

Usher syndrome is a rare, genetic problem that results in hearing loss, vision loss, and sometimes balance problems. Hearing loss is due to the loss of hair cells in the inner ear. The vision loss, called retinitis pigmentosa (RP), is due to a wearing away of the retina. This is a layer of nerve cells that line the back of the eye. This layer senses light and sends signals to the brain so that vision can happen.

Nerve and Retina of the Eye
Normal Anatomy of the Eye
Copyright © Nucleus Medical Media, Inc.

There are three types of Usher syndrome. They differ in the age when they start and the problems that they cause.

Causes

Usher syndrome is caused by faulty gene. A child must receive one faulty gene from each parent to get Usher syndrome. A child with one faulty gene is a carrier and will not have any symptoms.

Risk Factors

Usher syndrome is more common in people who have parents who have it or parents who carry the faulty gene.

Symptoms

Symptoms vary with each type:

  • Type 1
    • Deafness at birth
    • Severe balance problems that delay learning how to sit up and walk
    • Problems seeing in low light by age 10
    • Rapid blindness after vision problems start
  • Type 2
    • Moderate to severe hearing loss at birth
    • Problems seeing in low light during the teenage years
    • Vision that slowly gets worse but does not lead to blindness
  • Type 3
    • Born with normal hearing that gets worse slowly
    • Born with near-normal balance
    • Problems seeing in low light by the early teenage years
    • Blindness by mid-adulthood

Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done. Hearing and vision tests will be done. An electronystagmography (ENG) test will be done to look for signs of balance problems.

Genetic tests may be done to confirm the diagnosis.

Treatment

There is no cure. The goal is to manage hearing, vision, and balance problems. This can be done with:

  • Devices to help with hearing
  • Learning communication methods, such as sign language and Braille
  • Training to help with balance and movement

Prevention

There are no current guidelines 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 

CANADIAN RESOURCES

Health Canada  https://www.canada.ca 

CNIB  https://www.cnib.ca 

References

American College of Obstetricians and Gynecologists (ACOG). Committee on Genetics. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017 Mar;129(3):e41-e55.

Genetic preconception screening in individuals of Ashkenazi Jewish descent. EBSCO DynaMed website. Available at:  https://www.dynamed.com/evaluation/genetic-preconception-screening-in-individuals-of-ashkenazi-jewish-descent . Accessed April 14, 2020.

Lopes VS, Williams DS. Gene therapy for the retinal degeneration of Usher syndrome caused by MYO7A. Cold Spring Harb Perspect Med. 2015;5(6).

Usher syndrome. Boys Town National Research Hospital website. Available at: https://www.boystownhospital.org/research/sensory-neuroscience/gene-expression/usher-syndrome. Accessed April 14, 2020.

Usher syndrome. Foundation Fighting Blindness website. Available at: http://www.blindness.org/eye-conditions/usher-syndrome. Accessed April 14, 2020.

Usher syndrome. National Institute on Deafness and Other Communication Disorders website. Available at: www.nidcd.nih.gov/health/hearing/pages/usher.aspx. Updated March 16, 2017. Accessed April 14, 2020.

Revision Information

  • Reviewer: EBSCO Medical Review Board Rimas Lukas, MD
  • Review Date: 02/2020
  • Update Date: 04/14/2020