Skip to main content
Accessibility|Contact|Privacy|Terms|Cookies

Usher Syndrome: Types, Causes and Treatment Options

  • Published: 2015-09-18 (Revised/Updated 2017-01-03) : Author: Thomas C. Weiss : Contact: Disabled World
  • Synopsis: General information and overview of Usher syndrome, a rare inherited disorder that causes gradual vision loss and deafness.

Quote: "Scientists now know that Usher syndrome is an inherited disorder, meaning it is passed from parents to their children and is caused by changes or, 'mutations,' in genes."

Main Document

Usher syndrome is named for the British eye surgeon who first described it in the year 1914. It is a rare and inherited disorder that causes gradual vision loss and deafness. Usher syndrome may also affect a person's balance. Scientists have identified three types of Usher syndrome; 1, 2 and 3. Babies with Usher syndrome are born hard-of-hearing or deaf. Vision loss associated with the syndrome develops during childhood or adolescence.

Usher syndrome is a relatively rare genetic disorder caused by a mutation in any one of 10 genes resulting in a combination of hearing loss and visual impairment, and is a leading cause of deaf-blindness. Other names for Usher syndrome include Hallgren syndrome, Usher-Hallgren syndrome, retinitis pigmentosa-dysacusis syndrome, and dystrophia retinae dysacusis syndrome. Usher syndrome is incurable at present.

The different types of Usher syndrome are divided by the degree of a person's vision and hearing loss, whether balance issues are present, and the age when the affected person's vision loss happens. Within the three main types of Usher syndrome there are individual differences in how rapidly the condition progresses and symptoms. Between 3-6% of all children who are deaf and 3-6% of children who are hard-of-hearing have Usher syndrome. In developed countries such as America, approximately 4 babies in 100,000 born experience Usher syndrome.

Types of Usher Syndrome

Of the three types of Usher syndrome, Type 1 and Type 2 are the most common in America. These two types account for approximately 95% of all instances of Usher syndrome. What follows are descriptions of the different types of Usher syndrome.

Causes of Usher syndrome

Scientists now know that Usher syndrome is an inherited disorder, meaning it is passed from parents to their children and is caused by changes or, 'mutations,' in genes. Genes are the chemically coded instructions in cells that tell cells what to do. A person's body contains 20,000-25,000 genes. Each person has two copies of each gene, one from each parent. Usher syndrome is an, 'autosomal recessive disorder,' meaning:

A child who receives a mutated gene from each parent will experience Usher syndrome. The chance that a child of two parents who each have an Usher syndrome gene will experience Usher syndrome is around 1 in 4.

A person's retina is a tissue at the back of their eye that is needed for vision. The gene mutation in Usher syndrome affects the retina's light-sensing cells called, 'rods,' and, 'cones.' The condition is called, 'retinitis pigmentosa (RP).' With RP, the retina's light-sensing rods and cones slowly degrade, beginning at the outer edges. As RP worsens, the person loses their peripheral vision first, followed by loss of central vision.

Where Usher syndrome and causes of hearing loss is concerned, the cochlea is involved. The cochlea is a spiral structure in a person's inner ear that transmits sound. In Usher syndrome, the gene mutation affects the person's nerve cells in the cochlea so they do not transmit sound as they otherwise might.

Diagnosing Usher Syndrome

Usher syndrome is diagnosed based upon vision, hearing and balance testing. Testing for the Usher gene can confirm the diagnosis, yet is usually unnecessary. Genetic testing for different types of Usher syndrome is available at a number of laboratories in America. What follows are descriptions of different tests for Usher syndrome.

Balance Testing: An, 'electronystagmogram (ENG),' measures the person's involuntary eye movement, something that may detect balance issues.

Hearing Testing: Nearly every infant born in America has a hearing test at the time of their birth. Babies who do not pass the newborn hearing test should have genetic testing performed to discover whether or not they have an Usher syndrome gene. Older children, adolescents or young adults with hearing loss should receive an audiology evaluation, an exam that measures how loud a sound must be before the person affected hears it.

Vision Testing: Usher syndrome might go undiagnosed until the child or the child's parents notice a loss of night vision. The loss of night vision happens before the age of ten in Type 1, or during adolescence in Type 2. Vision testing includes a physical examination of the person's retina. The examination may detect changes in blood vessels, clumps of dead retinal cells, or a waxy appearance to the retina's surface. Visual field testing measures peripheral vision. An electroretinogram (ERG) is an examination that confirms the diagnosis of retinitis pigmentosa and also the retina's response to light. Due to the fact that the test requires insertion of a contact lens, general anesthesia is used in young children.

A pediatrician has the ability to answer a number of the questions parents of children with Usher syndrome have. The questions parents often have concern their child's physical growth and development. It is important to ask a pediatrician to refer you to vision and hearing specialists as soon as possible. The earlier a child begins working with these specialists, the more easily the child can learn to communicate with sign language, speak, and manage both vision and hearing loss.

Treating Usher Syndrome

While there is a good amount of research on Usher syndrome, a cure remains elusive. Treatment concentrates on helping the child to adapt to vision and hearing loss so they may enjoy life as much as possible. Options for treating Usher syndrome include the following:

A long-term study from the Foundation for Fighting Blindness and the National Eye Institute showed that high doses of Vitamin A palmitate may slow down changes in an affected person's eye because of retinitis pigmentosa. If you are considering giving your child Vitamin A, consult your child's vision specialist beforehand.

While there is currently no cure for Usher syndrome, children with the disorder can live full and happy lives with the assistance of training and educational programs that meet their needs. Early diagnosis of Usher syndrome is extremely important because the earlier a child receives the help they need, the better prepared they are to manage their vision and hearing loss.

Awareness: Usher Syndrome

Blue awareness ribbonThe blue ribbon denotes Usher Syndrome awareness with Global Usher Syndrome awareness day falling on the 19th September.

Usher Syndrome


Have Your Say! - Add your comment or discuss this article on our FaceBook Page.


Interesting Similar Topics
1 : Disability in South American Countries : Disabled World.
2 : Pride in Disability and Self-identifying as Disabled Aids Overall Well-being : Oregon State University.
3 : New Model to Support Workers with Disabilities : University of Cincinnati.
4 : Common Risk Factors That Impact Disability Rates : University of Michigan.
5 : Access Board Issues Guidance on the International Symbol of Accessibility : United States Access Board.
From our Disability Information section - Full List (65 Items)


Submit disability news, coming events, as well as assistive technology product news and reviews.


Loan Information for low income singles, families, seniors and disabled. Includes home, vehicle and personal loans.


Famous People with Disabilities - Well known people with disabilities and conditions who contributed to society.


List of awareness ribbon colors and their meaning. Also see our calendar of awareness dates.


Blood Pressure Chart - What should your blood pressure be, and information on blood group types/compatibility.





1 : Eating at Night, Sleeping By Day Alters Key Blood Proteins
2 : Interior Car Temperature Can Become Life-threatening for Children in an Hour
3 : 20 New Episodes of Letters to Lynette with Dr. Lynette Louise to Air on The Autism Channel in 2018
4 : Turnstone Center Designated as Official Paralympic Training Site by US Olympic Committee
5 : Help Your Child in School by Adding Language to The Math
6 : 50% of Retirees Saw Little or No COLA Increase in Net 2018 Social Security Benefits
7 : Turnstone Endeavor Games Concludes with National Records Broken
8 : Spinning in Circles and Learning From Myself by Tsara Shelton


Disclaimer: This site does not employ and is not overseen by medical professionals. Content on Disabled World is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of a physician or other qualified health provider with any questions you may have regarding a medical condition. See our Terms of Service for more information.

Reporting Errors: Disabled World is an independent website, your assistance in reporting outdated or inaccurate information is appreciated. If you find an error please let us know.

© 2004 - 2018 Disabled World™