Usher Syndrome: A Narrative Review on Early Diagnosis Barriers, Clinical Management Strategies, and Psychosocial Rehabilitation

Usher syndrome is an unusual genetic disorder characterised by sensorineural hearing loss, progressive impairment of vision resulting in retinitis pigmentosa, and intermittent vestibular dysfunction. All these impairments may have a major impact on communication, mobility, independence, and psychosocial well-being. The purpose of the narrative review is to provide a summary of the existing knowledge of the genetic foundation, clinical presentation, psychosocial issues, early diagnostic methods, and existing management of Usher syndrome. The literature search, published from 1993 to 2026, was conducted across databases such as PubMed and Google Scholar. It has been shown that mutations in the major Usher genes (USH1, USH2, and USH3) affect the severity and the progression of the auditory, visual, and vestibular impairments. Functional outcomes and social integration can be enhanced through early detection via newborn hearing screenings and the early provision of rehabilitative therapy, including hearing aids, cochlear implantation, vision support, and balance training. New treatment methods, such as gene therapy, retinal prostheses, optogenetics, and neuroprotective methods, give promising opportunities for future treatment. Despite technological improvements, psychosocial issues like social isolation, caregiver burden, and poor quality of life are still significant issues. In general, a multidisciplinary, individualised approach is needed to increase independence, involvement, and long-term well-being in individuals with US.