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USHER SYNDROME

The Usher Syndrome takes its name from the Scottish ophthalmologist Charles Howard Usher. He saw a link between the congenital deafness and Retinitis Pigmentosa in the year 1914. Usher Syndrome is the most common type of hereditary autosomal recessive deaf-blindness developed at a young age. There are three clinical types, ten Usher genes and thousands of mutations. A clinical diagnosis can be confirmed by means of a genetic test.

THREE CLINICAL TYPES

Usher syndrome has three different clinical types: types 1, 2 and 3. The division into the three clinical types is based on the severity of the hearing loss at birth.

DEAFBLINDNESS ACQUIRED IN LIFE

Becoming both deaf and blind in the course of life is also called ‘deafblindness acquired early in life’. Usher Syndrome is the most common type of deafblindness acquired early in life.

HEARING

The first indications for a suspicion of Usher Syndrome are hereditary deafness with a not working organ of balance or moderate to serious perceptive loss of hearing.

BALANCE

Deafness and seriously bad hearing can go together with balance problems, which will make learning to ride a bike and walking take longer and makes people walk in an unstable way.

EYESIGHT

The loss of vision often starts with night-blindness and an ever decreasing field of vision as a result of retinitis pigmentosa. Also cataract may occur at quite a young age. Many Usher Syndrome patients retain quite a clear tunnel vision of 5-10 degrees for a relatively long time.

HERITAGE AND CAUSE

Usher Syndrome is a hereditary disease which can only develop when both parents each have passed on a defective gene or mutation to their child. The way of inheriting is autosomal recessive.

DIAGNOSIS

By means of an extensive examination it can be determined whether (serious) loss of hearing and Retinitis Pigmentosa (RP) are involved. In order to be able to make the final diagnosis for Usher Syndrome a genetic test is required. After all, more syndromes are known (although very rare) that also affect these two senses.

PROGNOSIS

At this moment, very little is known about the progress and the fastness with which eyesight and hearing will deteriorate. Most Usher Syndrome patients retain their central eyesight in the about ten degrees tunnel for a long time. With a large part of the patients who are hard of hearing the loss of hearing remains quite stable. However, individual differences are really large, also within families in which several children suffer from Usher Syndrome.

1 + 1 = 3

Usher Syndrome is not the sum of poor eyesight and bad hearing. The one sense cannot be compensated by the other.
The limited eyesight and hearing make everyday life with Usher Syndrome a major challenge. As the limitations increase, the quality of life decreases and there is a large risk of social isolation.

LIVE WITH A LIFE-LONG LOSS

‘Loss that remains present for the entire life, is permanent and rather increases or gradually leads to new losses.’

PSYCHO-SOCIAL IMPACT

Usher Syndrome has major psycho-social consequences. The progression of the deterioration of two senses forms an ultimate challenge for the adaptability of people. Professor Claes Möller from Sweden has done a lot of research into the life strategies of people suffering from Usher Syndrome, the psycho-social consequences and their well-being.

ENERGY

Usher Syndrome is also called ‘fragmentary observation’: both hearing and seeing are done in small fragments that have to be made into a whole. This is hard work for the brain. Therefore it is not surprising that many people suffering from Usher Syndrome are tired quickly and have a higher chance of getting overstimulated and loss of energy. These are not symptoms as such, but the result of the increasing impairments.

THE USHER GENES

At this moment, 10 different Usher Syndrome genes are known, all of which are involved in the production of an Usher protein. The various genes are divided into three clinical types (USH 1, USH 2 and USH 3) and the gene is indicated by a letter (A, B, C, etc.).

KNOW YOUR GENE

Join the CRUSH database

As a patient you also bear a part of the responsibility for unravelling Usher Syndrome yourself. Therefore register for the CRUSH database.