Usher Syndrome

What is Usher syndrome?

Usher syndrome is a disease that leads to hearing loss and vision loss. Some people also experience balance problems. Usher syndrome is a disease you are born with. Healthcare providers usually diagnose it during childhood.

There are three types of Usher syndrome. All three cause varying degrees of hearing and vision loss. Some also cause difficulties with balance. The different types cause symptoms starting at different ages.

How common is Usher syndrome?

About 4 to 17 per 100,000 children are born with Usher syndrome and it's the cause of deafness in 3% to 6% of all children who are deaf. To inherit the disease, both of your parents must carry the gene that causes it.

What are the different types of Usher syndrome?

There are three types of Usher syndrome:

• Type 1: Babies with Usher syndrome Type 1 are born with severe hearing loss or deafness. They also have balance problems. Most babies with Usher syndrome Type 1 don’t start walking until they are at least 18 months old. Vision loss usually begins around age 10 and gets worse with age. This usually starts with loss of night vision and can worsen to severe vision loss over years.
• Type 2: Babies with Usher syndrome Type 2 are born with hearing loss. That hearing loss may be moderate to severe. Vision loss begins in the teens and continues to worsen. People with Usher syndrome Type 2 don’t typically have balance problems.
• Type 3: Usher syndrome Type 3 is very rare, making up only about 2% of all cases. People with this type have typical hearing and vision at birth. Hearing loss usually begins in late childhood. Vision loss begins in early to mid-adulthood, usually starting with night blindness. Half of those with Usher syndrome Type 3 also have balance problems.

What causes Usher syndrome?

Usher syndrome is an inherited condition. You get it through mutated (changed) genes your parents carry.

The condition is a recessive disorder, meaning you have to inherit copies of the mutated gene from each parent. If both parents carry the gene, they have a 1 in 4 chance of having a baby with Usher syndrome.

What are the symptoms of Usher syndrome?

Symptoms vary in their severity and when they begin, depending on the type of Usher syndrome. Common symptoms include:

• Hearing loss: Some children with Usher syndrome are born deaf or with severe hearing loss. Others experience only moderate hearing loss later in life.
• Vision loss: Children with Usher syndrome experience vision loss due to a condition called retinitis pigmentosa (RP). RP causes the retina (the lens in the back of the eye) to deteriorate. The first sign of retinitis pigmentosa is difficulty seeing in low light (also called “night blindness”). As the condition gets worse, peripheral (side) vision disappears. Eventually, RP can lead to blindness.
• Balance problems: Your sense of balance relies on input from your eyes and inner ear. Damage to those senses can lead to trouble with balance and coordination.

What are the complications of Usher syndrome?

In most cases, Usher syndrome symptoms continue to worsen over time. In severe cases, it can lead to deafness and blindness. People with less severe forms of the disease may experience only moderate hearing and vision loss.

Babies born with Usher syndrome Type 1 may experience balance problems. Those problems may mean delays in their ability to sit or walk without assistance. They may need extra help with activities — like bike riding or ice skating — that require good balance.

What causes vision loss in Usher syndrome?

The retina is a tissue at the back of your eye that helps you see. The gene mutation in Usher syndrome affects the retina's light-sensing cells called rods and cones. This condition is called retinitis pigmentosa or RP.

In RP, the retina's light-sensing rods and cones slowly go bad, starting at the outer edges. As RP gets worse, the person loses peripheral (edges) vision first then central vision.

What causes hearing loss in Usher syndrome?

The cochlea is a spiral structure in the inner ear that transmits sound. In Usher syndrome, the gene mutation affects the nerve cells in the cochlea so they do not transmit sound normally.

How is Usher syndrome diagnosed?

If your child experiences changes in their hearing, vision or balance, your healthcare provider may recommend following up with specialists who can help diagnose the cause. Early diagnosis is important to get your child the help they need as soon as possible. Testing may include:

• Hearing tests: An otolaryngologist (doctor who specializes in conditions of the ears) and an audiologist (who specializes in hearing issues) measure your child’s hearing. They use tests that check the ability to hear a variety of sounds and frequencies.
• Vision tests: An ophthalmologist (doctor who specializes in eye disorders) can assess your child’s vision. They look for damage to the retina that’s common in people with retinitis pigmentosa. They can also perform tests that measure peripheral vision. And they can analyze visual symptoms that might result in balance problems.
• Genetic tests: The only way to get a definitive diagnosis of Usher syndrome is to test for the genes that cause it. A simple blood test can look for any of the nine genes known to cause Usher syndrome.

How is Usher syndrome managed or treated?

There is currently no cure for Usher syndrome, but there are many ways to manage the disease. Treatments focus on improving the ability to communicate and function independently. Possible therapies may include:

• Hearing aids: People with mild-to-moderate hearing loss may benefit from hearing aids or other hearing assistive technology. These can be especially useful for children born with Type 2 or 3 Usher syndrome as they develop deafness later in life.
• Cochlear implants: A cochlear implant can help restore some hearing in children with severe hearing loss. These are usually needed in children with Type 1 Usher syndrome.
• Vision aids: There are several options — beyond regular prescription glasses — that can help you cope with vision loss.
• Vitamin A supplements: There is some evidence that taking vitamin A supplements can help slow down retinitis pigmentosa. You should talk to your doctor first before starting to take vitamin A, especially if there is a chance you might be pregnant.
• Clinical trials: There is a lot of ongoing research into new therapies to treat Usher syndrome. Talk to your healthcare provider about available clinical trials.

Can Usher syndrome be prevented?

Usher syndrome occurs because of the genes you inherit. At this time, there is no way to prevent it.

Genetic testing can determine if you and your partner both carry the gene. A genetic counselor can help you understand the risks of passing the gene to your child, especially if hearing loss runs in your family.

What is the prognosis (outlook) for people with Usher syndrome?

Although Usher syndrome doesn’t have a cure, children with Usher syndrome can live full and happy lives. Hearing and vision therapies can help them communicate and remain independent.

Early diagnosis of Usher syndrome is essential. The earlier a child receives the help they need, the better equipped they will be to manage hearing and vision loss.

When should I call the doctor?

You should call your healthcare provider if your child experiences:

• Difficulty with balance or coordination.
• Hearing loss.
• Vision changes.

What questions should I ask my doctor?

You may want to ask your healthcare provider:

• How will my child’s hearing change over time?
• How will my child’s vision change over time?
• Will my child experience difficulties with balance?
• Is my child a candidate for a cochlear implant?
• What are the best ways to help my child cope with hearing and vision loss?
• Should my family have genetic testing?

A note from Cleveland Clinic

Usher syndrome is a rare genetic disease that causes hearing and vision loss. There is no cure for Usher syndrome, but many therapies can help. With early diagnosis and treatment, your child can lead a full, active life. Getting the right assistance for your child’s hearing and vision loss will help them communicate and stay independent.