What is Usher syndrome? 

Usher syndrome is the most common condition that 

affects both hearing and vision. A syndrome is a 

disease or disorder that has more than one feature or 

symptom. The major symptoms of Usher syndrome 

are hearing loss and an eye disorder called retinitis 

pigmentosa, or RP. RP causes night-blindness and 

a loss of peripheral vision (side vision) through the 

progressive degeneration of the retina. The retina is 

a light-sensitive tissue at the back of the eye and is 

crucial for vision (see photograph). As RP progresses, 

the field of vision narrows—a condition known as 

“tunnel vision”—until only central vision (the ability to 

see straight ahead) remains. Many people with Usher 

syndrome also have severe balance problems. 

There are three clinical types of Usher syndrome: 

type 1, type 2, and type 3. In the United States, types 

1 and 2 are the most common types. Together, they 

account for approximately 90 to 95 percent of all cases 

of children who have Usher syndrome.

NIDCD Fact Sheet

Usher Syndrome 

u.s. department of health & human services ∙ national institutes of health ∙ National Institute on Deafness and Other Communication Disorders hearing balance

Who is affected by Usher syndrome? 

Approximately 3 to 6 percent of all children who are 

deaf and another 3 to 6 percent of children who are 

hard-of-hearing have Usher syndrome. In developed 

countries such as the United States, about four babies 

in every 100,000 births have Usher syndrome.

What causes Usher syndrome? 

Usher syndrome is inherited, which means that it is 

passed from parents to their children through genes. 

Genes are located in almost every cell of the body. 

Genes contain instructions that tell cells what to do. 

Every person inherits two copies of each gene, one 

from each parent. Sometimes genes are altered, 

or mutated. Mutated genes may cause cells to act 

differently than expected. 

Usher syndrome is inherited as an autosomal recessive 

trait. The term autosomal means that the mutated 

gene is not located on either of the chromosomes 

Photograph of the retina of a 

patient with Usher syndrome 

(left) compared to a normal 

retina (right). The optic nerve 

(arrow) looks very pale, the 

vessels (stars) are very thin, 

and there is characteristic 

pigment, called bone spicules 

(double arrows).
that determine a person’s sex; in other words, both 

males and females can have the disorder and can 

pass it along to a child. The word recessive means 

that, to have Usher syndrome, a person must receive 

a mutated form of the Usher syndrome gene from 

each parent. If a child has a mutation in one Usher 

syndrome gene but the other gene is normal, he or 

she is predicted to have normal vision and hearing. 

People with a mutation in a gene that can cause an 

autosomal recessive disorder are called carriers because 

they “carry” the gene with a mutation, but show no 

symptoms of the disorder. If both parents are carriers 

of a mutated gene for Usher syndrome, they will have 

a one-in-four chance of having a child with Usher 

syndrome with each birth. (See sidebar on “Chances 

of Inheriting a Recessive Disorder.”)

Usually, parents who have normal hearing and 

vision do not know if they are carriers of an Usher 

syndrome gene mutation. Currently, it is not possible 

to determine whether a person who does not have a 

family history of Usher syndrome is a carrier. Scientists 

at the National Institute on Deafness and Other 

Communication Disorders are hoping to change 

this, however, as they learn more about the genes 

responsible for Usher syndrome. 

What are the characteristics of the three 

types of Usher syndrome?

Type 1

Children with type 1 Usher syndrome are profoundly 

deaf at birth and have severe balance problems. 

Many of these children obtain little or no benefit from 

hearing aids. Parents should consult their doctor and 

other hearing health professionals as early as possible 

to determine the best communication method for 

their child. Intervention should be introduced early, 

during the first few years of life, so that the child can 

take advantage of the unique window of time during 

NIDCD Fact Sheet

Usher Syndrome 

hearingbalance

Genetic disorders can be caused by one or more 

changes in a gene. Every individual has two copies 

of the same gene. Genetic disorders are inherited in 

different ways. Usher syndrome is a recessive disorder. 

Recessive means: 

• A person must inherit a change in the same gene 

from each parent in order to have the disorder. 

• A person with one changed gene does not have 

the disorder, but can pass either the changed or the 

unchanged gene on to his or her child.

An individual with Usher syndrome usually has 

inherited a change in the same gene from each parent.

An individual who has one changed Usher syndrome 

gene is called a carrier. When two carriers of the same 

Usher syndrome gene have a child together, with each 

birth there is a: 

• 1-in-4 chance of having a child with Usher 

syndrome. 

• 2-in-4 chance of having a child who is a carrier. 

• 1-in-4 chance of having a child who neither has 

Usher syndrome nor is a carrier.

Chances of Inheriting a 

Recessive Disorder
which the brain is most receptive to learning language, 

whether spoken or signed. If a child is diagnosed with 

type 1 Usher syndrome early on, before he or she loses 

the ability to see, that child is more likely to benefit 

from the full spectrum of intervention strategies that 

can help him or her participate more fully in life’s 

activities.

Because of the balance problems associated with 

type 1 Usher syndrome, children with this disorder are 

slow to sit without support and typically don’t walk 

independently before they are 18 months old. These 

children usually begin to develop vision problems 

in early childhood, almost always by the time they 

reach age 10. Vision problems most often begin with 

difficulty seeing at night, but tend to progress rapidly 

until the person is completely blind.

Type 2

Children with type 2 Usher syndrome are born with 

moderate to severe hearing loss and normal balance. 

Although the severity of hearing loss varies, most of 

these children can benefit from hearing aids and can 

communicate orally. The vision problems in 

type 2 Usher syndrome tend to progress more slowly 

than those in type 1, with the onset of RP often not 

apparent until the teens. 

Type 3

Children with type 3 Usher syndrome have normal 

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 table at the bottom of the page is a summary of 

the characteristics of each type of Usher syndrome.

Characteristics of Usher Syndrome, by Type

Type 1 Type 1 Type 3

Hearing Profound deafness in both ears 

from birth

Moderate to severe hearing 

loss from birth

Normal at birth; progressive loss in 

childhood or early teens

Vision Decreased night vision before 

age 10

Decreased night vision begins 

in late childhood or teens

Varies in severity; night vision 

problems often begin in teens

Vestibular function 

(balance)

Balance problems from birth Normal Normal to near-normal, chance of 

later problems
NIDCD supports and conducts research and research training on the 

normal and disordered processes of hearing, balance, smell, taste, 

voice, speech, and language and provides health information, based 

upon scientific discovery, to the public.

How is Usher syndrome diagnosed?

Because Usher syndrome affects hearing, balance, 

and vision, diagnosis of the disorder usually includes 

the evaluation of all three senses. Evaluation of the 

eyes may include a visual field test to measure a 

person’s peripheral vision, an electroretinogram (ERG) 

to measure the electrical response of the eye’s lightsensitive cells, and a retinal examination to observe 

the retina and other structures in the back of the eye. 

A hearing (audiologic) evaluation measures how loud 

sounds at a range of frequencies need to be before 

a person can hear them. An electronystagmogram 

(ENG) measures involuntary eye movements that could 

signify a balance problem.

Early diagnosis of Usher syndrome is very important. 

The earlier that parents know whether their child 

has Usher syndrome, the sooner that child can begin 

special educational training programs to manage the 

loss of hearing and vision. 

Is genetic testing for Usher syndrome 

available?

So far, 11 genetic loci (a segment of chromosome on 

which a certain gene is located) have been found to 

cause Usher syndrome, and nine genes have been 

pinpointed that cause the disorder. They are: 

• Type 1 Usher syndrome: MY07A, USH1C, CDH23, 

PCDH15, SANS

• Type 2 Usher syndrome: USH2A, VLGR1, WHRN

• Type 3 Usher syndrome: USH3As

With so many possible genes involved in Usher 

syndrome, genetic tests for the disorder are not 

conducted on a widespread basis. Diagnosis of Usher 

syndrome is usually performed through hearing, 

balance, and vision tests. Genetic testing for a few 

hearing, balancesmell, tastevoice, speech, language

of the identified genes is clinically available. To learn 

about laboratories that conduct clinical testing, visit 

the Web site www.GeneTests.org and search the 

laboratory directory by typing in the term “Usher 

syndrome.” Genetic testing for additional Usher 

syndrome genes may be available through clinical 

research studies. To learn about clinical trials that 

include genetic testing for Usher syndrome, visit the 

Web site www.clinicaltrials.gov and type in the search 

term “Usher syndrome” or “Usher genetic testing.”

How is Usher syndrome treated?

Currently, there is no cure for Usher syndrome. The 

best treatment involves early identification so that 

educational programs can begin as soon as possible. 

The exact nature of these programs will depend on 

the severity of the hearing and vision loss as well as 

the age and abilities of the person. Typically, treatment 

will include hearing aids, assistive listening devices, 

cochlear implants, or other communication methods 

such as American Sign Language; orientation and 

mobility training; and communication services and 

independent-living training that may include Braille 

instruction, low-vision services, or auditory training.

Some ophthalmologists believe that a high dose 

of vitamin A palmitate may slow, but not halt, the 

progression of retinitis pigmentosa.This belief stems 

from the results of a long-term clinical trial supported 

by the National Eye Institute and the Foundation 

for Fighting Blindness. Based on these findings, the 

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 in the 

palmitate form under the supervision of their eye 

care professional. (Because people with type 1 Usher 

syndrome did not take part in the study, high-dose 

vitamin A is not recommended for these patients.) 
What are some of the latest research 

findings?

NIDCD researchers, along with collaborators from 

universities in New York and Israel, pinpointed a 

mutation, named R245X, of the PCDH15 gene that 

accounts for a large percentage of type 1 Usher 

syndrome in today’s Ashkenazi Jewish population. 

(The term “Ashkenazi” describes Jewish people who 

originate from Eastern Europe.) Based on this finding, 

the researchers conclude that Ashkenazi Jewish infants 

with bilateral, profound hearing loss who lack another 

known mutation that causes hearing loss should be 

screened for the R245X mutation.

Where can I find more information?

NIDCD maintains a directory of organizations that can 

answer questions and provide printed or electronic 

information on Usher syndrome. Please see the list of 

organizations at www.nidcd.nih.gov/directory.

Use any of the following keywords to help you search 

for organizations that are relevant to Usher syndrome:

• Usher syndrome

• Hereditary hearing loss

• Genetic diseases/disorders

• Deaf-blindness

For more information, additional addresses and phone 

numbers, or a printed list of organizations, contact:

NIDCD Information Clearinghouse

1 Communication Avenue

Bethesda, MD 20892-3456

Toll-free Voice: (800) 241-1044

Toll-free TTY: (800) 241-1055

Fax: (301) 770-8977

E-mail: nidcdinfo@nidcd.nih.gov

People who are considering taking vitamin A should 

discuss this treatment option with their health care 

provider before proceeding. Other guidelines regarding 

this treatment option include:

• Do not substitute vitamin A palmitate with a betacarotene supplement.

• Do not take vitamin A supplements greater than the 

recommended dose of 15,000 IU or modify your 

diet to select foods with high levels of vitamin A.

• Women who are considering pregnancy should 

stop taking the high-dose supplement of vitamin A 

three months before trying to conceive due to the 

increased risk of birth defects.

• Women who are pregnant should stop taking the 

high-dose supplement of vitamin A due to the 

increased risk of birth defects.

In addition, according to the same study, people with 

RP should avoid using supplements of more than 400 

IU of vitamin E per day.

What research is being conducted on 

Usher syndrome?

Researchers are currently trying to identify all of the 

genes that cause Usher syndrome and determine the 

function of those genes. This research will lead to 

improved genetic counseling and early diagnosis, and 

may eventually expand treatment options.

Scientists also are developing mouse models that 

have the same characteristics as the human types of 

Usher syndrome. Mouse models will make it easier 

to determine the function of the genes involved in 

Usher syndrome. Other areas of study include the 

early identification of children with Usher syndrome, 

treatment strategies such as the use of cochlear 

implants for hearing loss, and intervention strategies 

to help slow or stop the progression of RP.
NIDCD supports and conducts research and research training on the 

normal and disordered processes of hearing, balance, smell, taste, 

voice, speech, and language and provides health information, based 

upon scientific discovery, to the public.

hearing, balancesmell, tastevoice, speech, language

NIDCD Fact Sheet: Usher Syndrome

Publication No. 98-4291

Updated February 2008

For more information, contact:

NIDCD Information Clearinghouse

1 Communication Avenue

Bethesda, MD 20892-3456

Toll-free Voice: (800) 241–1044

Toll-free TTY: (800) 241–1055

Fax: (301) 770–8977

E-mail: nidcdinfo@nidcd.nih.gov

Internet: www.nidcd.nih.gov

The NIDCD Information Clearinghouse is a service of the 

National Institute on Deafness and Other Communication 

Disorders, National Institutes of Health, U.S. Department 

of Health and Human Services.