Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic. After excluding mutations in the DFNB1 locus, we implemented the next-generation sequencing method and revealed that hearing loss was syndromic and mutations in the USH2A gene indicate Usher syndrome. This research highlights the importance of molecular analysis in establishing a clinical diagnosis of congenital hearing loss.
On January 11, 2019, more than 200 specialists, including physicians, speech therapists, and physiotherapists, gathered in Krosno for a discussion on current problems in diagnosis, treatment, and rehabilitation of patients with hearing disorders. The Conference was held to mark the 50th Anniversary of the establishment of the Otorhinolaryngology Department at the John Paul II Subcarpathian Regional Hospital in Krosno. However, it was the future rather than history that became the main focus of the discussion. The need to continue the tradition of interdisciplinary approach to audiological treatment of patients with hearing disorders was highlighted.
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