Often, individuals who present with deafness and vision loss are assumed to have Usher syndrome (USH). This assumption is not correct. In this study, three children with hearing and vision loss also had genetic findings suggestive of USH. However, continued clinical assessment of these three children did not fully support an USH diagnosis. More genetic testing was done, and genetic alterations were found in ALMS1 in the first individual and TUBB4B in the second and third individuals, which do not cause USH. USH is the most common form of genetic deaf-blindness so when individuals present with hearing loss, vision impairment and retinal dysfunction, they are assumed to have USH. But there are other genes associated with these symptoms like in these three individuals in the study. It is important for everyone to obtain an accurate genetic diagnosis to understand what conditions they have and what therapies work for them.
What this means for Usher syndrome: This study calls for accurate genetic diagnoses in individuals. People will be able to access more targeted therapies. For Usher syndrome, a better understanding of what is not USH will allow more targeted therapies to be developed for USH.