Usher 101: Realities, Resources, and Research

Jennifer Lentz, PhD: Usher syndrome is the leading genetic cause of deaf-blindness in the world. There are three main types and ten main subtypes that differ in the age of onset, progression, and severity of the symptoms. Diagnosis is generally made based on the clinical symptoms, and genetic testing is used to confirm the type and subtype. Today, hearing aids, cochlear implants, and physical therapy are used to manage the loss of hearing and balance, while many new therapies are being developed for all three symptoms of hearing, balance, and vision loss. Genetic and non-genetic treatment strategies are under investigation including antisense, gene augmentation, gene editing, RNA editing, optogenetic, small molecule, and cellular therapies. Additionally, there is much research to better understand the natural course of the symptoms – when they begin and how quickly they progress – for each subtype of Usher.