Abstract

Usher syndrome (USH) is an autosomal recessive disease characterized by congenital hearing impairment and retinitis pigmentosa. Three subtypes of Usher syndrome have been reported, each represented by different levels and onset of hearing loss, vestibular areflexia, and retinitis pigmentosa (RP). We reported a case of 47-year-old woman with USH2A gene mutation also affected by right hypotropia and partial palsy of the superior branch of the right cranial nerve III. This disease association represented a real challenge for rehabilitative management, moreover significantly worsened the patient’s quality of life.