What is Usher Syndrome? Facts About Genetic Vision and Hearing Loss

This article addresses your most pressing questions about Usher syndrome, including what it is, what causes it, and what treatment options are available.

By Ability Central

17 April, 2024

A little boy with pale skin, light brown hair, thick blue glasses, and hearing aids hugs his father, who is carrying him across a field while wearing a bright blue collared shirt

Usher syndrome is a rare genetic disease that causes hearing loss, balance problems, and vision loss. This article will answer your biggest questions about Usher syndrome, including:

  • What is Usher syndrome?
  • What are the different types of Usher syndrome?
  • What causes Usher syndrome?
  • What are the early signs and symptoms of Usher syndrome?
  • What does Usher syndrome look like in adults?
  • What are the treatment options for Usher syndrome?
  • Where can I find help for Usher syndrome?

What is Usher syndrome?

Although the condition itself is rare, Usher syndrome is the most common genetic condition that affects both vision and hearing. This rare genetic disease affects hearing, vision, and balance. While Usher syndrome can affect both children and adults, people are born with the condition, and it is almost always diagnosed by late adolescence.  

Usher syndrome causes vision loss due to a rare group of eye diseases called retinitis pigmentosa (RP). RP affects the light-sensitive layer of tissue in the back of the eye called the retina. As the rods and cones slowly degrade, night vision, peripheral vision, and tunnel vision worsen.

In terms of hearing loss, many people with Usher syndrome experience major hearing issues from birth. These appear due to impairments in the inner ear and auditory nerve typically grows worse over time.

Some people with Usher syndrome eventually lose their vision and hearing completely. The timing and likelihood of becoming entirely deaf and blind depends upon which of the three types of the condition they have.

What are the early signs and symptoms of Usher syndrome?

The first signs and symptoms of Usher syndrome are issues with hearing, vision, and balance. Because Usher syndrome is a genetic condition, many obstetricians encourage genetic testing early in pregnancy to find out the baby’s risk of developing the syndrome, especially if Usher syndrome runs in your family.

After birth, all newborns receive hearing and vision tests. If your doctor finds a problem, they will call for additional testing. A healthcare provider will test hearing, eyesight, and balance to diagnose Usher syndrome, and will possibly use genetic testing to confirm the diagnosis.

The primary symptoms of Usher syndrome are poor vision, hearing, and balance. Retinitis pigmentosa (RP) is the primary eye disease of Usher syndrome. The early stages of RP cause night blindness and a loss of peripheral vision (or “tunnel vision”).

Both vision and hearing problems can exist at birth, but some children with Usher syndrome show normal hearing and vision until they start walking. Many babies with Usher syndrome deal with severe mobility delays, like struggling to hold up their own heads or not learning to walk until 18 months or older. 

The onset of symptoms depends on the type of Usher syndrome.

What are the different types of Usher syndrome?

There are three types of Usher syndrome:

  • Usher syndrome Type 1. A baby with Type 1 is born with severe hearing loss or deafness along with RP. 
  • Usher syndrome Type 2. The baby is born with moderate to severe hearing loss. Vision loss begins in the early teens and continues to worsen. 
  • Usher syndrome Type 3 is very rare. People with this type have typical hearing and vision at birth. Hearing loss begins in late childhood, and vision loss begins in early to mid-adulthood.

What causes Usher syndrome?

Usher is an inherited genetic condition that affects nine different genes. 

To have Usher syndrome, a person must inherit two copies of the same faulty gene: one from the mother and one from the father. A person with only one copy of the faulty gene will have no symptoms. They are called a carrier.

The likelihood of a child being born with Usher comes down to genetics. When both parents are carriers of the same Usher gene, there is a:

  • 25% chance that their child will have Usher syndrome.
  • 50% chance that their child will be a carrier.
  • 25% chance that their child will neither be a carrier nor have Usher syndrome. 

Undergoing a genetic test may help you understand the specifics of your bloodline's risk of inherited retinal disease (IRD). Knowing which mutated gene led to Usher syndrome can give someone a clearer idea of how their symptoms will progress. This knowledge can also help someone qualify for clinical trials or give doctors a clearer idea of the most effective treatments. 

For more info on the genetic testing process, visit the Fighting Blindness Foundation.

What does Usher syndrome look like in adults?

Most people with Usher syndrome find that their symptoms worsen over time. Some adults with Usher syndrome are completely blind, deaf, or both. However, with recent advances in technology and awareness, many adults with Usher syndrome go on to lead happy, healthy lives.

According to the Usher Syndrome Coalition, adults with Usher syndrome are vibrant, active, and contributing community members. The Coalition focuses on connecting people with the latest research and with each other.

To learn about the challenges and opportunities available to adults with Usher, see:

What are the treatment options for Usher syndrome?

There is no cure for Usher syndrome or retinitis pigmentosa. Treatment options focus on improving specific symptoms, and may include the following:

  • Managing hearing, vision, and balance problems. 
  • Medications or surgeries that can help with retinitis pigmentosa symptoms.
  • Communication aids like hearing aids, assistive listening devices, cochlear implants, auditory (hearing) training, learning American Sign Language, and Braille instruction.
  • Counseling for people with Usher syndrome and their families. This is both to learn methods of communication and to hold regular check-ins on mental health.

How does Usher syndrome affect communication and social skills?

Usher syndrome symptoms tend to get worse over time. A child born with Usher syndrome may need to learn alternative communication methods right away, while someone who develops Usher syndrome symptoms later in childhood may have to deal with the implications of vision and hearing loss. 

This can be frightening, confusing, and frustrating, especially for children whose symptoms come on suddenly and progress rapidly. Because of this, it’s critical to stay on top of mental health and social support for people with Usher syndrome.

Support groups, alternative communication methods for the whole family, and family therapy are all great ways to show someone with Usher syndrome that they are not alone.

A new advance in communication for people who are deaf and blind is Pro-tactile American Sign Language (PTASL). PTASL is a version of sign language that not only incorporates touch, but primarily depends on it. Tactile sign language helps a person with Usher communicate more quickly and clearly, and often without the need for an interpreter.

Where can I find help for Usher syndrome?

Education and support play a large part in the overall health of a person with Usher syndrome.

For education resources, see:

For mental health resources and support groups, see:

Article Type:
Learning