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.
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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 a faulty. A child must receive one faulty gene from each parent to get Usher syndrome.
Usher syndrome is more common in people who:
- Have parents who have it or who carry the faulty gene
- Are of Ashkenazi or Finnish ancestry
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 that starts around 10 years of age
- Rapid blindness after vision problems start
- Type 2
- Moderate to severe hearing loss at birth
- Problems seeing in low light during the teen years
- Vision that slowly gets worse but does not lead to blindness
- Type 3
- Normal hearing that slowly gets worse over time
- Some balance problems
- Problems seeing in low light by the early teen years
- Blindness by mid adulthood
The doctor will ask about symptoms and past health. 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 will be done to confirm the diagnosis.
There is no cure, but hearing, vision, and balance problems can be managed with treatment. Options are:
- Devices to help with hearing
- Learning communication methods, such as sign language and Braille
- Training to help with balance and movement
Usher syndrome cannot be prevented.
- American College of Obstetricians and Gynecologists (ACOG). Committee on Genetics. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol, 2017; 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.
- Usher syndrome. Boys Town National Research Hospital website. Available at: https://www.boystownhospital.org/research/sensory-neuroscience/gene-expression/usher-syndrome.
- Usher syndrome. Foundation Fighting Blindness website. Available at: https://www.fightingblindness.org/diseases/usher-syndrome.
- Usher syndrome. National Institute on Deafness and Other Communication Disorders website. Available at: https://www.nidcd.nih.gov/health/usher-syndrome.
- Mark S. Itzkowitz, MD, JD
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