Usher综合征——导致耳聋失明的最常见原因

C. Bommert, E. Hristova, C. Grupcheva
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引用次数: 0

摘要

聋盲是一种严重的残疾,影响生活的方方面面。最常见的聋盲结合病症是Usher综合征(USH),传统上将其分为3大临床亚型,包括Usher综合征1型、Usher综合征2型和Usher综合征3型。USH的发生频率经常被低估。迄今为止,已鉴定出5个USH1基因,3个参与USH2基因,1个参与USH3基因。总之,USH可能是一种与听力障碍、进行性视网膜变性和前庭功能障碍相关的多感觉障碍。这些患者的管理需要跨学科的方法和合作。
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Usher syndrome—the most common reason for deaf-blindness
Deaf-blindness is a serious disability, which affects all aspects of life. The most common condition combining deafness and blindness is the Usher syndrome (USH), which is traditionally divided into three major clinical subtypes, including Usher syndrome type 1, Usher syndrome type 2, and Usher syndrome type 3. The frequency of USH occurrence is often undervalued. To date, five genes for USH1 have been identified, three genes are involved in USH2, and one gene in USH3. In summary, USH can be a multisensory impairment associated with hearing impairment, progressive retinal degeneration, and vestibular dysfunction. Management of these patients requires interdisciplinary approach and collaboration.
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