Usher Syndrome

What is Usher syndrome?

Usher syndrome is an inherited disorder that involves both a hearing impairment and a vision impairment called retinitis pigmentosa. Retinitis pigmentosa is a progressive degeneration of the retina that causes night blindness and reduction of peripheral vision (side vision). Some people also have varying problems with balance.

Usher syndrome is passed from parents to their children genetically.

What are the different types of Usher syndrome?

There are three types of Usher syndrome:

• US type 1 (US1)--characteristics include:

  • Profoundly deaf from birth

  • Do not usually benefit from hearing aids

  • Severe balance problems

  • Vision problems begin by age 10

  • Blindness eventually occurs

• US type 2 (US2)--characteristics include:

  • Moderate to severe hearing problems

  • Usually benefit from hearing aids

  • Use speech to communicate

  • Normal balance

  • Retinitis pigmentosa begins in teenage years

• US type 3 (US3)--characteristics include:

  • Born with normal hearing

  • Hearing problems develop in teenage years

  • Near normal balance

  • Deafness by late adulthood

  • Retinitis pigmentosa begins around puberty

  • Blindness by mid-adulthood

How is Usher syndrome diagnosed?

Special tests assist in the diagnosis of Usher syndrome, including:

• Electronystagmography (ENG) to detect balance problems

• Electroretinography (ERG) to detect retinitis pigmentosa

• Audiologic (hearing) evaluation and testing

Treatment for Usher syndrome

Specific treatment for Usher syndrome will be determined by your health care provider based on:

• Your age, overall health, and medical history

• Extent of the disease

• Your tolerance for specific medications, procedures, or therapies

• Expectations for the course of the disease

• Your opinion or preference

At present, there is no known cure for Usher syndrome. The best treatment, however, is early identification so that education programs can begin as soon as possible. Treatment may include:

• Adjustment counseling

• Career counseling

• Assistive devices, such as hearing aids

• Orientation and mobility training

• Communication services

• Independent living training

• Low vision services

• Auditory training