A to Z of syndromes

A-Z of syndromes: Usher syndrome

Understanding Usher syndrome which is found in approximately 10,000 people in the UK

Understanding Usher syndrome which is found in approximately 10,000 people in the UK

Usher syndrome was first described by Albrecht von Graefe from Germany in 1858, but Charles Usher provided more detail about the condition in 1914. It is also referred to as deafness-retinitis pigmentosa syndrome, dystrophia retinae pigmentosa-dysostosis syndrome and Graefe-Usher syndrome. For a child to be affected, both the recessive genes, one from each parent, need to be present and this can occur in a ratio of 1:4 pregnancies. Neither of the parents would usually display any characteristics, signs or symptoms. About 10,000 people in the UK have Usher syndrome.

Usher syndrome has been staged from 1-3 according to its severity and the age at which the signs and symptoms appear.

Usher syndrome type 1, the most common, is characterised by severe hearing loss or deafness from


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