Iwasaki Satoshi, Yoshimura Hidekane, Takeichi Norito, Satou Hiroaki, Ishikawa Kotaro, Kaga Kimitaka, Kumakawa Kozou, Nagai Kyoko, Furuya Nobuhiko, Ikezono Tetsuo, Nakanishi Hiroshi, Naitou Yasu, Fukushima Kunihiro, Tono Tetsuya, Kimitsuki Takashi, Nishio Shinya, Takumi Yutaka, Usami Shinichi
Department of Hearing Implant Sciences, Shinshu University, Matsumoto.
Nihon Jibiinkoka Gakkai Kaiho. 2012 Oct;115(10):894-901. doi: 10.3950/jibiinkoka.115.894.
Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular dysfunction. Usher syndrome types 1, 2, and 3 can be distinguished by differences in audiovestibular features. The objectives of this retrospective study were to evaluate 26 patients with Usher syndrome clinically. The 26 patients (male: 12 cases, female: 14 cases) with Usher syndrome, with a clinical diagnosis based on symptoms of bilateral sensorineural hearing loss and RP, had been registered from 13 hospitals as a multicenter study. We assessed the clinical history and performed audiovestibular and ophthalmologic examinations, and genetic testing. Eleven of the patients were classified as having Usher type 1 (38.5%), 6 with Usher type 2 (23.1%), and 9 with Usher type 3 (38.5%). However, many patients with atypical Usher type 1 (70%) and type 2 (83.3%) were found compared with Usher type 3 (10%). The conductive rate of vestibular examinations including the caloric test (50%) was low. There were many variations in the clinical symptoms in Usher syndrome patients, therefore the classification of Usher types 1, 2, and 3 has been complicated. We have proposed a flowchart for the diagnosis of Usher types 1, 2, and 3.
Usher综合征是一种常染色体隐性疾病，可导致双侧感音神经性听力损失、色素性视网膜炎（RP），偶尔还会出现前庭功能障碍。Usher综合征1型、2型和3型可通过听前庭特征的差异来区分。这项回顾性研究的目的是对26例Usher综合征患者进行临床评估。这26例Usher综合征患者（男性12例，女性14例），根据双侧感音神经性听力损失和RP症状进行临床诊断，作为多中心研究从13家医院登记入组。我们评估了临床病史，进行了听前庭和眼科检查以及基因检测。其中11例患者被归类为Usher 1型（38.5%），6例为Usher 2型（23.1%），9例为Usher 3型（38.5%）。然而，与Usher 3型（10%）相比，发现许多非典型Usher 1型（70%）和2型（83.3%）患者。包括冷热试验在内的前庭检查传导率较低（50%）。Usher综合征患者的临床症状存在许多差异，因此Usher 1型、2型和3型的分类变得复杂。我们提出了一个Usher 1型、2型和3型诊断流程图。
