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Usher综合征是一种常染色体隐性遗传性疾病,以重度听力损失或耳聋及色素性视网膜炎为特征。在先天性耳聋人群中,Usher综合征占3～6％,在盲-聋患者中,该综合征亦占有较大比例;Davenport等将Usher综合征分为以下几型。Ⅰ型:先天性重度听力损失,无前庭反应,色素性视网膜炎(RP)在青春期前发作;Ⅱ型:中度到重度先天性听力损失,前庭功能正常及较晚发作的RP;Ⅲ型:进行性的和不同程度的听力损失,RP发作时间不定,前庭反应情况不明;Ⅳ型临床表现与Ⅱ型类似,但为X性连锁遗传。
Usher’s syndrome is an autosomal recessive disease characterized by severe hearing loss or deafness and retinitis pigmentosa. In congenital deafness, Usher syndrome accounted for 3 to 6%, in the blind - deaf patients, the syndrome also accounts for a large proportion; Davenport other Usher syndrome will be divided into the following types. Type I: congenital severe hearing loss, no vestibular reaction, retinitis pigmentosa (RP) pre-puberty; Type II: moderate to severe congenital hearing loss, normal vestibular function and late onset of RP; Type III: Progressive and varying degrees of hearing loss, RP attack time variable, unknown vestibular response; type Ⅳ clinical manifestations and type Ⅱ, but for the X-linked inheritance.