Hum Genet 2022 Apr 30;141(3-4):709-735. Epub 2022 Mar 30.
Institut Pasteur, Institut de l'Audition, Université Paris Cité, INSERM UMRS1120, Progressive Sensory Disorders, Pathophysiology and Therapy Unit, F-75012, Paris, France.
Usher syndrome (USH) is the most common cause of deaf-blindness in humans, with a prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under investigation. The traditional clinical classification of Usher syndrome defines three major subtypes-USH1, 2 and 3-according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Read More