Usher Syndrome

Usher Syndrome is a rare genetic health condition that affects both hearing and vision.

Usher syndrome is an inherited genetic condition where both the mother and father have the recessive gene, also known as carriers of the condition.

Approximately 1 in 6000 Australians are affected by usher syndrome. 

What is Usher syndrome:

People with Usher syndrome can have partial to total hearing loss, can experience gradual vision loss and can experience problems with balance.

There are 3 categories of Usher syndrome; Usher syndrome Type 1 (US1), Usher syndrome Type 2 (US2) and Usher syndrome Type 3 (US3).

There is no cure for this syndrome, however treatment options are supportive, offering management of vision, hearing, and balance problems. 

Subtypes of Usher Syndrome Type 1 (US1) are categorised by presenting with characteristics including:

• Profoundly deaf from birth.
• Speech difficulties. 
• Use of other communication means such as sign language (Auslan).
• Children experience delay in milestones such as sitting, standing or walking as a result of affected balance. 
• Eye problems which may start to develop around the age of 10.
• Vision loss that may start to develop in the first 10 years of life. 

Subtypes of Usher Syndrome Type 2 (US2) are categorised by presenting with characteristics including:

• Moderate loss of hearing (within the low frequency range).
• Severe loss of hearing (within the high frequency range).
• Affected balance in later years.
• Vision loss, including blind spots, develop during teenage years and progress during life. 

Usher Syndrome Type 3 (US3) is categorised by presenting with characteristics including:

• Born with normal hearing and close to normal balance.
• Progressive loss of hearing that is more pronounced as the person gets older.
• Measurable hearing loss at puberty.
• Vision loss that starts to develop during teenage years, often progressive with age.
• Deterioration of balance as the person gets older.
• Mostly of Finnish descent. 

Treatment and Support

Treatment and support for Usher Syndrome aims to manage the symptoms associated with Usher Syndrome. 

Management of hearing impairment may include:

• Use of hearing aids.
• Use of cochlear implants.
• Adaptive technology.
• Auslan sign language training. 
• Communication skills training. 
• Access to service for people with a hearing impairment. 

Management of balance problems may include:

• Vestibular rehabilitation therapy. 

Management of vision impairment may include:

• Learning to use Braille.
• Magnification aids.
• Adaptive technology.
• Orientation and mobility training.
• Access to low-vision services.

Support for those with Usher Syndrome include:

• Support and advocacy groups.
• Genetic Counselling.
• Community support.
• Genetic Support Victoria (GSNV).
• UsherKids Australia.

Diagnosis of Usher Syndrome

Usher syndrome can be diagnosed by a number of tests including:

• Eye tests to check for retinitis pigmentosa.
• Hearing tests.
• Tests to determine the person’s degree of balance (electronystagmography - ENG).
• Genetic testing.

For more information about Usher Syndrome, head to https://usherkidsaustralia.com/.