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what is usher syndrome?

USH

Usher syndrome (USH) is the most common genetic cause of combined deafness and blindness. As a progressive condition, vision and hearing deteriorate over time. Currently, there is no cure for Usher syndrome.

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THREE TYPES OF USHER SYNDROME

There are three clinical types of Usher syndrome: Type 1, Type 2 and Type 3. Each type is distinguished by the age when the symptoms appear, as well as the severity of the symptoms that include hearing, vision and sometimes balance. DNA testing is available to confirm the type. I have Usher syndrome Type 2.

USH TYPE 1

HEARING: born with profound deafness

VISION: decreased night vision before age 10

BALANCE: problems from birth

USH TYPE 2

HEARING: born with moderate to severe hearing loss

VISION: decreased night vision begins in late childhood or teens

BALANCE: normal

USH TYPE 3

HEARING: normal at birth; progressive loss in childhood or early teens

VISION: varies in severity; night vision problems begin in teens

BALANCE: normal to near normal; chance of later problems

ADDITIONAL FACTS ABOUT USHER SYNDROME

q&a

What causes vision loss in Usher syndrome? The vision loss component of Usher syndrome is caused by retinitis pigmentosa (RP). A progressive disorder, RP causes the cells in the retina to deteriorate over time. Night blindness is the first stage of RP, followed by a narrowing of the visual field into tunnel vision, and, finally, total blindness. The speed of the progression varies significantly.
What causes hearing loss in Usher syndrome? The inner ear contains hair cells that receive sound. Usher syndrome causes a genetic mutation that results in the abnormal development of these crucial sound receptor cells, causing hearing loss.
How rare is Usher syndrome? Usher syndrome is rare. An estimated 400,000 people worldwide have Usher syndrome, including 25,000 in the United States. Only 1% (4,000) of people with Usher syndrome have been identified. Genetic testing can confirm Usher syndrome and help accelerate research.

HOW CAN YOU HELP?

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At the moment, there is no cure for Usher syndrome, however researchers are hard at work seeking out treatments to potentially slow, stop, or even reverse vision loss and hearing.. The Usher Syndrome Society is a non-profit that is raising awareness and funds to support this critical research. 

Your contribution means everything. Thank you.

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