Usher Syndrome

Usher syndrome (USH) is a rare disorder that causes vision loss, hearing loss and, sometimes, balance issues. It happens when a child inherits abnormal genes (variants) that disrupt how hearing and vision develop.

Symptoms are often congenital (present at birth) or develop during childhood. Rarely, people with this condition develop symptoms as adults. The vision loss is the same as in retinitis pigmentosa, a condition that causes the cells in your retina to gradually stop working. The hearing loss is related to problems in your inner ear. Your inner ear also controls organs that help you balance.

Usher syndrome often gets worse over time. There’s no cure for it, but it doesn’t affect your child’s life expectancy. There are ways to manage symptoms and support your child at every stage of their life.

Types of Usher syndrome

There are 16 known gene variants that cause this disorder. Syndrome types vary depending on the combinations of these genes. All types of USH involve hearing and vision loss. Some involve problems with balance.

The three main types (from most to least severe) are:

• Type 1: Babies have severe or total hearing loss at birth. They also have balance issues. Usually, before age 10, children with this type develop night blindness. As their vision worsens, they develop tunnel vision. Some eventually lose their sight.
• Type 2: Babies are born with moderate to severe hearing loss. In late childhood or in their teens, they’ll start to have decreased night vision and then progressive vision loss. This type doesn’t involve balance issues.
• Type 3: Babies are born with normal hearing and vision. Then, late in childhood, they develop hearing loss. Vision loss usually starts in early to mid-adulthood. They may or may not have balance issues.

Symptoms of Usher syndrome

Symptoms vary and show up over time depending on the type of USH. Common symptoms include:

• Hearing loss: Some babies are born deaf or are only able to hear loud noises. Others start to lose their hearing later in childhood.
• Vision loss: Vision loss starts with being unable to see in low light. As it gets worse, your child may develop blind spots on the edge of their vision. They may eventually go blind.
• Balance issues: Children with type 1 may have trouble sitting up and learning to walk. Some adults with type 3 will also have balance issues.

Usher syndrome causes

Usher syndrome happens when a child inherits the gene variants that cause it from both biological parents. This is called an autosomal recessive pattern. If both biological parents carry a variant, there’s a 1 in 4 chance that their child will have the syndrome.

There’s a 1 in 2 chance (50%) that their child will also be a carrier of Usher syndrome. Carriers usually don’t have symptoms. But they can pass the gene variant on to their children.

Complications of this condition

Both hearing and vision loss can make it hard for your child to learn and communicate. Balance issues can keep them from reaching milestones in their development, like taking their first step. The uncertainty that goes along with gradually losing their senses can take a major toll on your child’s sense of well-being.

This is why it’s important to seek support for your child as soon as possible. This may mean taking advantage of early intervention services and connecting with other families who are navigating USH.

The complications can be serious, but in most cases, they’re avoidable or at least manageable with the right help. It’s important to remember that there are resources available to help your child.

How is Usher syndrome diagnosed?

Diagnosis depends on the specific syndrome type. For example, if routine newborn hearing screening tests detect that your baby has hearing loss, your baby will have more tests to confirm the loss. A healthcare provider may recommend genetic counseling or order genetic tests to check for the genetic mutations that cause Usher syndrome.

If your child appears to have issues seeing or hearing, their pediatrician may refer you to specialists who’ll order tests, including:

• Hearing tests: An ear, nose and throat specialist (otolaryngologist) and an audiologist will measure your child’s hearing. They’ll use tests that check the ability to hear a variety of sounds and frequencies, and will also examine your child’s ears.
• Vision tests: An ophthalmologist will check your child’s vision. They’ll 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.

How is Usher syndrome treated?

Healthcare providers will tailor treatment to your child’s situation. Treatments for Usher syndrome may include:

• Cochlear implants: Providers often recommend cochlear implants for babies born with severe hearing loss.
• Hearing aids: If your child has mild-to-moderate hearing loss, they may benefit from hearing aids or other hearing assistive technology. These can be especially useful if your child has type 2 or 3 USH and develops hearing issues as they grow up.
• Vision aids: Your child’s provider may prescribe devices to help your child see better. For example, they may recommend eyeglasses with lenses that filter light or magnify objects.
• Early intervention services: Some children benefit from services that help them manage vision, hearing and balance issues. For example, your child may need to learn Braille or sign language, so they can always communicate.

What can I expect if my child has Usher syndrome?

There’s no cure for this condition, and symptoms often worsen over time. People with less severe forms of the disease may experience only moderate hearing and vision loss. But in severe cases, USH can lead to deafness and blindness. Your child’s healthcare provider can help you understand how your child’s condition may progress.

In the meantime, know that there are treatments and services that can help babies and children make the most of their hearing and vision. And there are resources that can prepare your child and family for the changes that go along with diseases that tend to worsen over time.

When does Usher syndrome start?

Usher syndrome is inherited, which means it’s present at birth. But symptoms start at different times depending on the type. With types 1 and 2, hearing loss is usually present at birth. Vision loss is present at birth in type 1, but tends to show up later in childhood with type 2. In type 3, symptoms usually don’t appear until late childhood or mid- to late adulthood.