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Usher综合征是一种常染色体隐性遗传病,它以感音神经性聋和继发于色素性视网膜炎的渐进性视力下降为特征。Usher综合征临床上可分为3型:Ⅰ型(Usher Ⅰ)表现为先天性极重度感音神经性聋,前庭器官可以是正常的(cUsher Ⅰ)或功能缺陷的(vcUsherⅠ):Ⅱ型(UsherⅡ)以轻至重度感音神经性聋和正常的前庭功能为特征:Ⅲ型(Usher Ⅲ)表现为进行性听力下降,散光和/或远视。目前关于Usher Ⅱ是否表现为进行性听力下降存在争议。
Usher’s syndrome is an autosomal recessive disease characterized by sensorineural hearing loss and progressive vision loss secondary to retinitis pigmentosa. Usher syndrome can be divided into 3 types clinically: Usher Ⅰ is congenital very severe sensorineural hearing loss, vestibular organ may be normal (cUsher Ⅰ) or dysfunction (vcUsher Ⅰ): type Ⅱ ( Usher II) is characterized by mild to severe sensorineural hearing loss and normal vestibular function: Usher III manifests as progressive hearing loss, astigmatism, and / or hyperopia. It is controversial whether Usher Ⅱ manifests as progressive hearing loss.