Patients with Usher syndrome, a genetic disorder that causes both hearing and vision impairment, often rely on accessibility tools to manage daily life. Common solutions for hearing impairment include hearing aids and cochlear implants (CI). Hearing aids, worn either in or behind the ear, amplify and transmit sound to the inner ear. However, for those with severe or profound hearing loss, hearing aids may be insufficient, making cochlear implants a better option.
Cochlear implants comprise two components: an external sound processor, which resembles a behind-the-ear hearing aid, and surgically implanted electrodes that transmit sound directly from the processor to the auditory nerve, bypassing the inner ear. While effective, cochlear implants are expensive, with costs ranging from $20,000 to $100,000, and require surgery. This led researchers at the Department of Audiology, Örebro University Hospital in Sweden to explore whether specific genes or genetic mutations could predict the success of cochlear implants.
In their study, which analyzed a database of Usher syndrome patients with known genetic mutations and cochlear implants, the researchers found that while most Usher-related genetic mutations did not correlate with CI outcomes, two genes did. Patients with mutations in the USH2A gene showed higher success rates with cochlear implants, while those with PCDH15 mutations tended to have poorer outcomes.
What this means for Usher syndrome: While using genetic mutations alone to predict cochlear implant success is overly simplistic and does not consider other variables such as the patient’s health and age, surgical technique, and degree of hearing loss, this study shows how valuable genetic information can be in creating personalized treatment plans for patients with Usher syndrome.