Usher Syndrome

Usher syndrome is the most common genetic cause of deafblindness—the loss of both hearing and vision. It is named for Charles Usher (2 March 1865 – 3 March 1942), a Scottish ophthalmologist who first described its symptoms in 1914.

Credit: Robert N. Fariss, Ph.D., chief of the NEI Biological Imaging Core, and Ann H. Milam, Ph.D., former professor in the Department of Ophthalmology at the University of Washington via the National Eye Institute — *Credit: Robert N. Fariss, Ph.D., chief of the NEI Biological Imaging Core, and Ann H. Milam, Ph.D., former professor in the Department of Ophthalmology at the University of Washington via the* *National Eye Institute*

Usher syndrome is inherited. If both parents carry a mutated gene for Usher syndrome, there is a 1-in-4 chance with each pregnancy that the baby will have Usher syndrome. In the United States, Usher syndrome affects approximately four babies in every 100,000 births. Worldwide, more than 400,000 people are affected by Usher syndrome.

Usher is technically considered a syndrome rather than a disease, condition, or disorder because it has more than one identifying feature or symptom. The two major symptoms of Usher syndrome are hearing loss and an eye disorder, retinitis pigmentosa (RP). In many individuals with Usher, balance is also severely impacted.

Children with Usher syndrome are born with or develop hearing loss. An estimated 10 percent of individuals with congenital bilateral, sensorineural hearing loss have Usher syndrome.

RP is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina—the light sensitive tissue that lines the back of the eye—and results in night-blindness and weakened peripheral vision. As RP progresses, the field of vision narrows, resulting in tunnel vision. Eventually, only central vision—the ability to see straight ahead—remains. RP affects approximately 1 in 4,000 people both in the U.S. and worldwide.

Some types of Usher syndrome cause difficulties with balance because of vestibular abnormalities.

Sources: National Eye Institute, National Institute on Deafness and Other Communication Disorders, Usher Syndrome Coalition

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Types of Usher Syndrome
Usher Syndrome Treatments
Our Research on Usher Syndrome

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Types of Usher Syndrome

There are three general categories of Usher syndrome. Type 1 and type 2 are the most common forms of Usher syndrome in the United States. These 2 types account for about 95% of all cases of the syndrome. A total of nine genes that cause Usher syndrome have been identified.

Type 1

Children with type 1 Usher syndrome are born profoundly deaf and have severe balance difficulties. Many of these children do not benefit from hearing aids and may be candidates for cochlear implants.

Because of the balance problems associated with type 1 Usher syndrome, children with this disorder are slow to sit without support. They typically are not able to walk until 18-24 months old.

These children usually begin to develop vision problems in early childhood, almost always by age 10. The vision loss is caused by retinitis pigmentosa (RP), a degenerative condition of the retina. Vision problems most often begin with difficulty seeing at night, but tend to progress to total blindness.

The associated genes are MY07A, USH1C, CDH23, PCDH15, and SANS.

Type 2

Those with type 2 Usher syndrome are born with moderate to severe hearing loss and normal balance. Most of these individuals can benefit from hearing aids and can communicate orally. Vision problems in those with type 2 Usher syndrome tend to progress more slowly than those in type 1, with the onset of RP often not apparent until adolescence or shortly after. Type 2 does not result in total blindness. Hearing loss usually remains stable.

The associated genes are USH2A, VLGR1, and WHRN.

Type 3

Children with type 3 Usher syndrome have typical hearing at birth. Although most children with the disorder have normal to near-normal balance, some may develop balance problems later on. Hearing and sight worsen over time, but the rate at which they decline can vary from person to person, even within the same family. A person with type 3 Usher syndrome may develop hearing loss by the teens, and he or she will usually require hearing aids by mid- to late adulthood. Night blindness usually begins sometime during puberty. Blind spots appear by the late teens to early adulthood, and, by mid-adulthood, the person is usually legally blind.

The associated gene is USH3A.

Sources: Cleveland Clinic; Genetic and Rare Diseases Information Center; National Institute on Deafness and Other Communication Disorders

Learn More:

Types of Usher Syndrome
Usher Syndrome Treatments
Our Research on Usher Syndrome

Treatments for Usher Syndrome

The following is general information only. HHF does not offer medical advice. Please consult your hearing care professional with any specific questions about your auditory health and healthcare.

There is no known cure for Usher syndrome, but there are ways to manage its effects on hearing, balance, and vision.

The most efficient treatment plans involve early identification and intervention through tailored educational programs to prepare the individual for employment and independent living. Educational programs for Usher consider the severity of the hearing and vision loss as well as the child’s age and abilities.

Treatment for hearing loss may include hearing aids, assistive listening devices, cochlear implants, American Sign Language, and speech therapy.

Treatment for balance difficulties may include physical and occupational therapy and orientation and mobility (O&M) training. O&M training teaches the individual to get from point A to point B. It also helps him or her strengthen muscles, particularly the core, to improve balance.

Treatment for vision loss may include Braille instruction, auditory training, and low-vision services. Provided by an optometrist, low vision services can include the following: training to use optical and electronic devices correctly; training to help use remaining vision more effectively; and improving lighting and enhancing contrast.

Additionally, a high dose of vitamin A may slow retinitis pigmentosa, but not cure it, per the results of a long-term clinical trial supported by the National Eye Institute and the Foundation for Fighting Blindness. Researchers recommend that most adult patients with the common forms of RP take a daily supplement of 15,000 IU (international units) of vitamin A under the supervision of their eye care professional. As patients with type 1 Usher syndrome did not take part in the study, high-dose vitamin A is not recommended for them.

HHF offers general information only and does not offer medical advice. Please consult your hearing care professional with any specific questions about your auditory health and healthcare.

Sources: American Foundation for the Blind; National Eye Institute; National Institute on Deafness and Other Communication Disorders

Learn More:

Types of Usher Syndrome
Usher Syndrome Treatments
Our Research on Usher Syndrome

Our Research on Usher Syndrome

Thanks to the generosity of our donors, Hearing Health Foundation (HHF) funds groundbreaking research to advance our scientific understanding of the leading genetic cause of deafblindness, Usher Syndrome.

Grants focused on Usher syndrome are awarded annually to promising scientific investigators through the Emerging Research Grants (ERG) program.

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