Current Approaches to the Management of Usher Syndrome for the Clinician

Abstract

Purpose More than 460 million people suffer from disabling hearing loss worldwide, and about 50%–60% of hearing loss in infants are due to genetics. Usher syndrome is a genetic condition in which children are born deaf or hard of hearing and subsequently develop retinitis pigmentosa. It is the most common cause of deafness and blindness in pediatric populations, and pathogenic variants in 10 different genes are shown to be causative. The purpose of this review article is to advance the understanding of the clinical symptoms of an individual with Usher syndrome and highlight the latest research in the development of new treatments including gene therapy. The care and management of individuals with Usher syndrome require a team of multidisciplinary health care professionals, including an audiologist, a speech-language pathologist, an ophthalmologist, and a medical geneticist. We highlight the importance of early identification for better speech and developmental outcomes, specifically in pediatric individuals. Conclusion This review empowers audiologists to be aware of early signs of Usher syndrome as they are typically the first point of contact and provides important information for audiologists and other health care professionals involved in the care of individuals with hearing loss and vision loss.