In this study, researchers set out to understand the relationship between genes that cause Usher syndrome and vestibular dysfunction. It had been typically thought that those with USH1 and USH3 present with vestibular dysfunction in addition to the visual and hearing impairments. However, based on this study they noted that the gene identification alone is not enough to accurately predict the presence of a vestibular dysfunction. They observed that individuals with USH2 also had vestibular dysfunction, even though most were asymptomatic and experienced normal balance.
What this means for Usher syndrome: Having more data with thorough documentation of the characteristics of Usher syndrome and how they are divided between the different types and atypical presentations of USH will allow clinicians to better diagnose and manage USH and researchers to better understand how to approach treatments.
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