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What is Usher Syndrome?

Usher Syndrome is a genetic condition that is responsible for a condition called Retinitis Pigmentosa as well as a number of cases of acquired deafblindness. As well as hearing and sight, Ushers also affects balance. There is currently no cure for Usher Syndrome, therefore early detection is necessary in increasing coping mechanisms and beginning a programme of communication education.

Sight loss associated with Usher is caused by Retinitis Pigmentosa (RP), which is a progressive condition. In RP, there is a build up of pigment on the retina at the back of the eye. This has varying effects on a person’s vision and can depend entirely on the individual. These effects include:

Tunnel vision, where all outer vision is lost
Loss of up/downwards vision, but still able to see outwards
Loss of outer vision but able to see up/down
Patchy vision all over

There are at least three forms of Usher Syndrome and up to 11 genes that cause them. Each type also has separate identity issues, which can cause additional problems that worsen with progressive sight and hearing loss.

Type 1

A person with Type 1 Usher is born severely to profoundly deaf and will have lifelong problems with balance. They will usually develop the signs of RP at an early age; some have been diagnosed as early as four years of age. Someone with Type 1 Usher will normally have a primary communication method of BSL, though this will be adapted as vision deteriorates. People with Usher Type 1 mostly prefer to have an identity of ‘Usher’ rather than deafblind.

Type 2

A person with Type 2 Usher is born with a moderate to severe hearing loss. They will normally begin showing signs of RP in their late teens or even early twenties. An Usher Type 2 person usually communicated through hearing aids, lip reading and speech.

Type 3

Those with Type 3 Usher are born with seemingly normal sight and hearing with both deteriorating in adulthood. They will usually communicate through hearing aids, lip reading and speech.

Ushers