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Usher Syndrome
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<span>Usher Syndrome</span>
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<div class="c-jump-menu__intro">On this page:</div>
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<a class="c-jump-menu__item" href="#section-id-1372">Types</a>
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<a class="c-jump-menu__item" href="#section-id-1662">Symptoms</a>
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<a class="c-jump-menu__item" href="#section-id-1665">Causes</a>
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<img loading="lazy" src="/sites/default/files/styles/square_medium/public/2019-03/Usher-GettyImages-477562350%20copy.jpg?itok=7fhhvWrv" width="600" height="600" alt="Young boy gets fitted for a hearing aid" />
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<h2 class="c-at-a-glance__title">At a glance: Usher Syndrome</h2>
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<strong class="c-at-a-glance__label">Early Symptoms:</strong>
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<div class="c-at-a-glance__description"><p>Hearing loss or deafness (usually from birth)</p></div>
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<strong class="c-at-a-glance__label">Later Symptoms:</strong>
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<div class="c-at-a-glance__description"><p>Loss of night vision and side (peripheral) vision</p></div>
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<strong class="c-at-a-glance__label">Diagnosis:</strong>
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<div class="c-at-a-glance__description"><p>Dilated eye exam, hearing test, balance test, genetic test</p></div>
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<strong class="c-at-a-glance__label">Treatment:</strong>
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<div class="c-at-a-glance__description"><p>Vision aids, vision rehabilitation, hearing aids or cochlear implants</p></div>
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What is Usher syndrome?
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<p>Usher syndrome is a rare genetic disease that affects both hearing and vision. It causes deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Sometimes, it also causes problems with balance.</p><p>People who have Usher syndrome are born with it, but they usually get diagnosed as children or teenagers. There’s no cure for Usher syndrome, but treatments can help people manage their vision, hearing, and balance problems — so it’s important to talk to your child’s doctor right away if you notice symptoms.</p>
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<h3 class="c-section__heading">
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What are the types of Usher syndrome?
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<p>There are 3 types of Usher syndrome, and each type causes a different mix of health problems.</p><p>People with <strong>type 1</strong> have:</p><ul><li>Profound hearing loss (only able to hear very loud sounds) or deafness at birth</li><li>Loss of night vision by age 10, with severe vision loss by midlife</li><li>Balance problems, including trouble sitting up and walking</li></ul><p>People with <strong>type 2</strong> have:</p><ul><li>Moderate to severe hearing loss in early childhood</li><li>Loss of night vision by teenage years, with severe vision loss by midlife</li><li>Normal balance</li></ul><p>People with<strong> type 3</strong> have:</p><ul><li>Normal hearing at birth, with hearing loss starting in childhood</li><li>Loss of night vision by teenage years, with severe vision loss by midlife</li><li>Normal balance</li></ul><p>Types 1 and 2 are the most common.</p>
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What are the symptoms of Usher syndrome?
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<p>The main symptoms of Usher syndrome are deafness or hearing loss and RP. Different types of Usher syndrome cause different symptoms, but everyone with Usher syndrome develops RP.</p><p>RP causes cells to break down in the retina (the light sensitive tissue at the back of the eye), causing loss of night vision and side (peripheral) vision. As RP progresses, your field of vision narrows until you only have central vision — also called tunnel vision.</p><p>Signs of RP in children include:</p><ul><li>Trouble moving around in the dark</li><li>Taking longer to adjust to lighting changes</li><li>Tripping over objects in their path</li></ul><p>In adults, RP can make it difficult to do daily tasks like walking, driving, and reading.</p>
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<a href="/learn-about-eye-health/eye-conditions-and-diseases/retinitis-pigmentosa" class="c-link__link">Learn more about RP</a>
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<h2 class="c-section__heading">
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What causes Usher syndrome?
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<p>Usher syndrome is caused by changes in genes. It’s an inherited genetic disease, which means these changed genes get passed down from parents to children. Scientists have found 9 different genes that can cause Usher syndrome.</p>
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<a href="/learn-about-eye-health/eye-conditions-and-diseases/usher-syndrome/genes-and-usher-syndrome" class="c-link__link">Learn more about genes and Usher syndrome </a>
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How will my child's doctor check for Usher syndrome?
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<p>Your child’s doctor will check for Usher syndrome by asking questions about their medical history and testing their hearing, balance, and vision.</p><p>Your child’s eye doctor can check for RP s part of a comprehensive dilated eye exam. The exam is simple and painless — the doctor will give your child some eye drops to dilate (widen) their pupils and then check their eyes for RP and other eye problems. The exam includes a visual field test to check peripheral (side) vision.</p>
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<a href="/learn-about-eye-health/healthy-vision/get-dilated-eye-exam" class="c-link__link">Learn what to expect from a dilated eye exam</a>
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<p>The doctor may also do other tests, including:</p><ul><li><strong>Electroretinography (ERG). </strong>An ERG lets the eye doctor check how well the retina responds to light.</li><li><strong>Optical coherence tomography (OCT). </strong>This test uses light waves to take a detailed picture of the retina.</li><li><strong>Videonystagmography. </strong>This test checks for eye movements you can’t control, which can be a sign of balance problems.</li><li><strong>Fundus autofluorescence (FAF) imaging. </strong>In this test, the eye doctor uses blue light to take a picture of the retina.</li><li><strong>Hearing tests</strong>. The doctor will check for signs of hearing loss or deafness.</li><li><strong>Genetic testing</strong>. Your child’s doctor may suggest a genetic test to confirm the diagnosis of Usher syndrome.</li></ul>
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What's the treatment for Usher syndrome?
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<p>There’s no cure for Usher syndrome. But the good news is early treatment can help people with Usher syndrome make the most of their hearing and vision. That’s why it’s important to tell your child’s doctor right away if you notice symptoms of Usher syndrome.</p>
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Treatment for vision problems
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<p>Low vision aids and vision rehabilitation (training) services can help people with Usher syndrome make the most of their vision. Children with Usher syndrome may also need to learn to read Braille.</p>
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<div class="c-link">
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<a href="/learn-about-eye-health/eye-conditions-and-diseases/low-vision" class="c-link__link">Learn more about living with low vision</a>
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<div class="c-text">
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<p>Vitamin A may help slow the development of RP in some people with Usher syndrome. But taking too much vitamin A can have serious side effects — so talk with the doctor about the risks and benefits of this treatment.</p>
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Treatment for hearing problems
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<p>Treatment for hearing problems caused by Usher syndrome may include:</p><ul><li>Hearing aids or assistive listening devices (devices that make sounds louder)</li><li>Cochlear implants (devices that help people with severe or profound hearing loss hear sounds)</li></ul><p>Some children with Usher syndrome may need to learn American Sign Language (ASL) to help them communicate, or get hearing training to help them hear and understand different sounds.</p>
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What's the latest research on Usher syndrome?
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<p>Researchers are studying the genes that cause Usher syndrome and looking for ways to find it earlier and treat it better, including ways to slow or stop the development of RP.</p><p>Recent clinical trials are studying a new type of gene therapy that targets one of the most common mutations that cause Usher syndrome (USH2A). This could lead to new treatment that improves vision for people with Usher syndrome.</p>
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<a href="/about/news-and-events/news?topic=57&initiatives=All&research=All&source=All&created=All&language=All" class="c-link__link">Get the latest updates on NEI-supported RP research</a>
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<p>To find current studies about Usher syndrome, you can search for clinical trials on <a href="https://www.clinicaltrials.gov/">ClinicalTrials.gov</a>.</p><p>For more information about Usher syndrome and other communication disorders, visit the <a href="https://www.nidcd.nih.gov/">National Institute on Deafness and Other Communication Disorders</a>.</p>
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<p class="views-element-container c-last-updated" id="block-views-block-nei-last-updated-block-1"><strong>Last updated:</strong> December 4, 2024</p>
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<a href="/about/news-and-events/news/university-houston-researcher-builds-new-model-examine-usher-syndrome" hreflang="en">University of Houston researcher builds new model to examine Usher syndrome</a>
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<span class="c-sidebar-widget__list-date">
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<time datetime="2023-04-18T15:04:58-04:00">April 18, 2023</time>
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<img loading="lazy" src="/sites/default/files/styles/thumbnail/public/2022-06/Retina%20organoid%201.5.jpg?itok=LbAUqTXy" width="200" height="200" alt="Multicolored image of photoreceptors and their long connecting processes, called axons, within a stem cell-derived retinal organoid" />
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</div><p class="c-sidebar-widget__list-link-container">
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<a href="/about/news-and-events/news/u-wisconsin-eye-research-uncovers-how-stem-cell-photoreceptors-reach-their-targets" hreflang="en">U. Wisconsin eye research uncovers how stem cell photoreceptors reach their targets</a>
|
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<span class="c-sidebar-widget__list-date">
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<time datetime="2022-06-15T05:43:35-04:00">June 15, 2022</time>
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<a href="/about/news-and-events/news/retinoid-therapy-may-improve-vision-people-rare-genetic-disorder-according-study-mice" hreflang="en">Retinoid Therapy May Improve Vision in People with Rare Genetic Disorder, According to Study in Mice </a>
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<time datetime="2021-11-09T10:19:44-05:00">November 9, 2021</time>
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