Usher Syndrome

WHAT IS USHER SYNDROME?

Usher syndrome is a genetic condition which results in deafness or hearing loss from birth and a progressive vision loss. 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. Retinitis Pigmentosa 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. As retinitis pigmentosa 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 main types of Usher Syndrome.

Type 1. Cause profound deafness from birth, and poor balance. RP is usually recognized before age 10. People generally use Auslan and see themselves as part of the Deaf community.

Type 2. Causes partial to severe hearing loss, RP generally not apparent until adolescence. Speech is the main form of communication. Speech is the main form of communication.

Type 3.  This type is rarer and has been specifically recognized in Finland. Normal hearing from birth and RP develops in adolescence along with hearing loss.

Additional information about Usher Syndrome can be found here:
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Retina Australia QLD

GENETICS & INHERITANCE    

Usher Syndrome is a genetic condition involving sensorineural hearing loss and retinitis pigmentosa (RP). Although considered a rare disease, it is the most frequent cause of deaf-blindness in humans. It is passed from parent to child in autosomal recessive manner. This means that a child must inherit one defective gene from each parent in order to develop Usher Syndrome.
Click here for explanation of Inheritance Patterns.

You can find more information about US genetics and inheritance here:
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POTENTIAL TREATMENT AND RESEARCH

Although there is no cure for Usher syndrome, children with Usher syndrome can live full and happy lives with the help of education and training programs that meet their needs. Early diagnosis of Usher syndrome is very important because the earlier a child receives the special assistance he or she needs, the better equipped the child is to manage his or her hearing and vision loss. Currently, there is no specific treatment for persons with Ushers syndrome or RP. Genetic studies of RP are a significant factor in finding a cure or prevention for this disease.
Additional information can be found here:
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USHER SYNDROME SUPPORT GROUPS

Usher Syndrome Support Group Pamphlet

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FACEBOOK

Support groups bring together people facing similar issues. Members of support groups often share experiences and advice. It can be helpful just getting to talk with other people who are in the same boat.

For further information on closed groups in Retina Australia WA Facebook page, Please feel free to contact the office on +61 8 9388 1488 or email to info@rawa.com.au.