What Is Usher Syndrome
Usher Syndrome is an autosomal recessive disorder and is the most common disease in the category of genetic hearing loss associated with eye disorders. It is characterised by a congenital hearing loss with or without balance disorders and a progressive vision loss resulting from retinitis pigmentosa. There are three heterogeneous forms of the disorder:
• Type 1: makes up 85% of cases and is characterised by congenital severe to profound hearing loss with the development of retinitis pigmentosa before puberty and absence of vestibular (balance) responses.
• Type 2: makes up 10% of cases and is characterised by severe congenital hearing loss and mobility difficulties with onset of retinitis pigmentosa after puberty.
• Type 3: makes up 5% of cases and is characterised by progressive sensorineural hearing loss, with onset in childhood or adolescence, and retinitis pigmentosa.
In the United States, the prevalence of Usher Syndrome has been estimated to range from 1.8 to 4.4 per 100,000 in the general population; 13-20% in the retinitis pigmentosa population; and from 1-6% to as high as 30% among individuals who are congenitally deaf (Issing & Linthicum 2000; Hope 1997).
The prevalence in the United Kingdom of typical Type 1 and 2 cases is 5.3 per 100,000; higher than in other international population based studies (Hope 1997).
In Australia, it is estimated that Type 1 and Type 2 forms of Usher Syndrome account for 10% of children who are born deaf, and that one child is born with retinitis pigmentosa in approximately every 3,000 live births in Australia (Better Health Channel 2007).
There is no cure for Usher Syndrowm but there is research currently being conducted around the world into genetics – and it is hoped that this research will result in positive outcomes for people with Usher Syndrome.
MORE INFORMATION
For more information contact Karen Wickham, Social Worker (08) 9473 5462 or email: lsfs@senses.asn.au
