![]() ![]() It takes its name from the ophthalmologist Charles Usher, who described a large series of 69 affected patients from 40 families with hearing loss and retinopathy. It is a genetic condition that includes hearing loss, retinopathy (retinitis pigmentosa), and vestibular areflexia with different entities and onset. Usher syndrome (USH) is the most common deaf–blind syndrome, with 50% of deaf-blindness in persons younger than 65 years of age. It affects social life, communication, access to information, orientation, and the ability to move around freely and safely. Thus, deaf-blindness is a distinct disability that limits activities and restricts participation in society. Deaf-blindness is a combined vision and hearing impairment of such severity that it is difficult for the impaired senses to compensate for each other. The use of our “near senses”-smell, taste, and tactility-essentially becomes important when hearing and vision are impaired. Human communication is, to a large extent, based on our “far senses”: hearing and vision. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. USH is inherited in an autosomal recessive pattern. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1 USH2A, ADGRV1, and WHRN for Usher type 2 CLRN1 for Usher type 3. ![]() USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. Balance disorders and bilateral vestibular areflexia are also observed in some cases. Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. ![]()
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