Usher Syndrome

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.

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.

There are 3 types of Usher syndrome, and each type causes a different mix of health problems.

People with type 1 have:

• Profound hearing loss (only able to hear very loud sounds) or deafness at birth
• Loss of night vision by age 10, with severe vision loss by midlife
• Balance problems, including trouble sitting up and walking

People with type 2 have:

• Moderate to severe hearing loss in early childhood
• Loss of night vision by teenage years, with severe vision loss by midlife
• Normal balance

People with type 3 have:

• Normal hearing at birth, with hearing loss starting in childhood
• Loss of night vision by teenage years, with severe vision loss by midlife
• Normal balance

Types 1 and 2 are the most common.

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.

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.

Signs of RP in children include:

• Trouble moving around in the dark
• Taking longer to adjust to lighting changes
• Tripping over objects in their path

In adults, RP can make it difficult to do daily tasks like walking, driving, and reading.

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.

Your child’s doctor will check for Usher syndrome by asking questions about their medical history and testing their hearing, balance, and vision.

Your child’s eye doctor can check for RP as 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.

The doctor may also do other tests, including:

• Electroretinography (ERG). An ERG lets the eye doctor check how well the retina responds to light.
• Optical coherence tomography (OCT). This test uses light waves to take a detailed picture of the retina.
• Videonystagmography. This test checks for eye movements you can’t control, which can be a sign of balance problems.
• Fundus autofluorescence (FAF) imaging. In this test, the eye doctor uses blue light to take a picture of the retina.  
• Hearing tests. The doctor will check for signs of hearing loss or deafness.
• Genetic testing. Your child’s doctor may suggest a genetic test to confirm the diagnosis of Usher syndrome.

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.

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.

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.

To find current studies about Usher syndrome, you can search for clinical trials on ClinicalTrials.gov.

For more information about Usher syndrome and other communication disorders, visit the National Institute on Deafness and Other Communication Disorders.