摘要
Usher's Syndrome是一種罕見的體染色體隱性遺傳，主要特徵是感覺神經性聽障及視網膜色素變性引發進行性視力減退。臨床上主要分為三類型，Usher症候群第一型（約佔80~85%）及第三型(2~5%)合併變異的前庭功能，唯第二型(10~15%)有正常的前庭功能。本科於2001年12月經歷l名35歲的中年女性，主訴兩側聽力喪失及進行性視力減退超過20年。純音聽力檢查兩耳為對稱性重度感覺神經性聽力障礙，視野檢查為周邊視野缺損，眼底血管螢光攝影顯示色素變性，前庭功能檢查正常，經診斷為Usher症候群第二型，目前患者配戴助聽器後生活與人溝通尚無大礙、唯視障只能建議其多攝取葉綠蔬果（葉綠素、葉黃素、維他命A等）及眼睛防曬（紫外線）來防止惡化。因此，在聽障合併進行性視力減退的遺傳疾病中，我們應先考慮到Usher症候群的可能。
並列摘要
Usher syndrome is a rare autosomal recessive inherited disorder comprising sensorineural hearing loss and retinitis pigmentosa. Three heterogeneous forms are usually defined. Type Ⅰ (80~85%) and Type Ⅲ (2~5%) are characterized by variable vestibular function, whereas Type Ⅱ (10~15%) exhibits normal peripheral vestibular function. In this report, a 35-year-old woman is described who presented in 2001 with bilateral hearing loss and a 20 year history of progressive visual impairment. A pure tone audiogram identified severe bilateral symmetric down-sloping sensorineural hearing loss with otherwise normal caloric testing result. Bilateral optic fundus examination using fluorescein angiography identified retinitis pigmentosa. A diagnosis of Usher syndrome Type Ⅱ was diagnosed based on these findings. The patient has worn a hearing aid with reasonable success, and has been advised to eat green vegetables and fruit to minimize further visual impairment. Usher syndrome should be remembered in the list of differential diagnoses when assessing a patient who presents with sensorineural hearing loss and progressive visual impairment.