Usher syndrome is a genetic condition characterised by hearing loss or deafness, the progressive loss of vision and in some cases, vestibular dysfunction. The loss of vision is caused by an eye disease called Retinitis Pigmentosa (RP), which affects the light-sensitive area of tissue on the back of the eye (the retina).
There are three main types of Usher syndrome – Type 1, Type 2 and Type 3. Each of these types has a number of different genes responsible for causing the syndrome.
Usher syndrome is a genetic disorder and is inherited in an ‘autosomal recessive’ manner. Basic inheritance genetics tells us that:
A genetic test involves looking at a patient’s DNA to see if there are any mutations present. It involves taking either a blood sample or saliva swab from the patient which is then analysed in a laboratory. Genetic tests are important because they allow doctors to predict how severe the condition might become and what other symptoms can be expected.
Genetic testing is available from many genetic clinics across Australia. Please see our SUPPORT section for a state by state listing.