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Usher综合征是一种常染色体隐性遗传性疾患。诊断标准是夜盲、感觉神经性聋。特殊的眼底改变、暗适应试验和视网膜电图异常,视野缩小。儿童最初几年往往夜盲是唯一症状而被忽视,直至青春期视野缩小才能做出诊断。此病VonGraefe 1858年首先描述,Usher在1914年强调了该病的家族性和遗传性。此病在耳聋儿童中约占3～10%。 Meri n等1974年报告35例本病,并分为四型。I型(21/35)严重耳聋,8例中7例前庭功能检查无反应,精神正常,管状视野,无视网膜电图反应。Ⅱ型(10/35)渐进性听力减退,高频损失为主,多数前庭功能正常,精神、神经正常。Ⅲ
Usher syndrome is an autosomal recessive disorder. The diagnostic criteria are night blindness, sensory deafness. Special fundus changes, dark adaptation tests and abnormalities of the electroretinography, narrowed field of vision. Children are often neglected in the first few years because night blindness is the only symptom and can not be diagnosed until their adolescence has narrowed their horizons. The disease VonGraefe first described in 1858, Usher in 1914 highlighted the familial and genetic disease. The disease accounts for 3 to 10% of deaf children. Meri n et al 1974 reported 35 cases of the disease, and is divided into four types. Type I (21/35) severe deafness, 7 cases of 8 cases in the vestibular function test no reaction, normal, tubular vision, no electro-EMG reaction. Type Ⅱ (10/35) progressive hearing loss, high-frequency loss-based, most of the vestibular function was normal, the spirit, normal nerves. Ⅲ