Usher syndrome is a genetic condition, meaning you inherited it from your parents. There are three types of Usher syndrome. Each causes varying degrees of hearing and vision loss. In some cases, the condition also results in trouble with balance.
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.
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.
There are three types of 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.
Symptoms vary in their severity and when they begin, depending on the type of Usher syndrome. Common symptoms include:
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.
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.
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.
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:
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:
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.
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.
You should call your healthcare provider if your child experiences:
You may want to ask your healthcare provider:
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.
Last reviewed by a Cleveland Clinic medical professional on 05/14/2021.
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