Disease mechanisms and gene therapy for Usher syndrome.

Usher syndrome (USH) is a major cause of deaf-blindness in humans, affecting ∼400 000 patients worldwide. Three clinical subtypes, USH1-3, have been defined, with 10 USH genes identified so far. In recent years, in addition to identification of new Usher genes and diagnostic tools, major progress has been made in understanding the role of Usher proteins and how they cooperate through interaction networks to ensure proper development, architecture and function of the stereociliary bundle at the apex of sensory hair cells in the inner ear.