Usher Syndrome
What is Usher syndrome?
Usher syndrome is a rare genetic condition that affects both hearing and vision. It can cause deafness or hearing loss, along with a retinal issue called retinitis pigmentosa (RP). In some cases, it might also lead to balance problems.
People with Usher syndrome are born with it, but it’s usually diagnosed during childhood or adolescence. While there’s no cure for Usher syndrome right now, there are treatments available that can help manage the challenges related to vision, hearing, and balance. So, if you notice any symptoms in your child, it’s really important to talk to their healthcare provider as soon as possible.
What are the types of Usher syndrome?
Usher syndrome comes in three different types, each with its own set of health challenges.
Type 1 includes:
Profound hearing loss (only able to hear very loud sounds) or complete deafness from birth
Night vision problems by age 10, with significant vision loss by middle age
Balance issues, like trouble sitting up or walking
Type 2 includes:
Moderate to severe hearing loss starting in early childhood
Night vision loss by their teenage years, with considerable vision impairment by middle age
Normal balance
Type 3 includes:
Normal hearing at birth, with hearing loss beginning in childhood
Night vision loss by their teenage years, with severe vision impairment by middle age
Normal balance
Types 1 and 2 are the most common.
What are the symptoms of Usher syndrome?
The main symptoms of Usher syndrome are hearing loss and retinitis pigmentosa. While the different types show various symptoms, everyone with Usher syndrome will eventually develop RP.
RP causes the cells in the retina (the light-sensitive tissue at the back of the eye) to break down, leading to loss of night vision and peripheral vision. As RP progresses, the visual field narrows until only central vision remains, which is often called tunnel vision.
Signs of RP in kids might include:
Trouble seeing in low-light situations
Taking a long time to adjust to changes in lighting
Frequently tripping over things in their way
For adults, RP can make everyday activities like walking, driving, and reading more difficult.
What causes Usher syndrome?
Usher syndrome is caused by genetic mutations. It’s an inherited condition, meaning these altered genes are passed down from parents to their children. Researchers have identified nine different genes that can lead to Usher syndrome.
How will my child's doctor check for Usher syndrome?
To check for Usher syndrome, your child’s doctor will ask about their medical history and perform tests to evaluate their hearing, balance, and vision.
Your child’s eye doctor can look for RP during a thorough dilated eye exam. This process is simple and painless — the doctor will use eye drops to widen the pupils and then check the eyes for RP and other issues. The exam also includes a visual field test to check peripheral (side) vision.
The doctor might also do some additional tests, including:
Electroretinography (ERG): This test helps the eye doctor see how well the retina responds to light.
Optical coherence tomography (OCT): This uses light waves to create a detailed image of the retina.
Videonystagmography: This checks for involuntary eye movements that could indicate balance problems.
Fundus autofluorescence (FAF) imaging: In this test, the eye doctor uses blue light to take pictures of the retina.
Hearing tests: The doctor will look for signs of hearing loss or deafness.
Genetic testing: Your child’s doctor might suggest a genetic test to confirm the diagnosis of Usher syndrome.
What's the treatment for Usher syndrome?
Right now, there’s no cure for Usher syndrome. But the good news is that early intervention can help people with Usher syndrome make the most of their hearing and vision. That’s why it’s so important to let your child’s doctor know right away if you see any symptoms of Usher syndrome.
Treatment for vision problems
Low vision aids and vision rehabilitation services can help individuals with Usher syndrome improve their visual abilities. Kids with Usher syndrome might also need to learn Braille.
Learn more about living with low vision
Vitamin A may help slow down the progression of RP in some individuals with Usher syndrome. However, taking too much vitamin A can cause serious side effects, so it’s important to discuss the risks and benefits of this treatment with the doctor.
Treatment for hearing problems
Managing hearing issues related to Usher syndrome might involve:
Hearing aids or assistive listening devices (tools that make sounds louder)
Cochlear implants (devices that help people with severe or profound hearing loss hear sounds)
Some kids with Usher syndrome may need to learn Sign Language to help with communication or receive hearing training to recognize and understand different sounds.