Usher syndrome is a rare, genetic problem that results in hearing loss, vision loss, and sometimes balance problems.
is due to the loss of hair cells in the inner ear.
The vision loss, called
(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.
There are three types of Usher syndrome. They differ in the age when they start and the problems that they cause.
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.
Usher syndrome is more common in people who have parents who have it or parents who carry the faulty gene.
Symptoms vary with each type:
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
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
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
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.
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
There are no current guidelines to prevent Usher syndrome.
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.
Last reviewed February 2020 by
EBSCO Medical Review Board
Rimas Lukas, MD
Last Updated: 4/14/2020
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