USH2A 基因突变导致的日本色素性视网膜炎和 Usher 综合征患者的视觉预后
Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
作者信息
Nagase Yasunori, Kurata Kentaro, Hosono Katsuhiro, Suto Kimiko, Hikoya Akiko, Nakanishi Hiroshi, Mizuta Kunihiro, Mineta Hiroyuki, Minoshima Shinsei, Hotta Yoshihiro
机构信息
a Department of Ophthalmology , Hamamatsu University School of Medicine , Hamamatsu-shi , Shizuoka , Japan.
b Department of Otorhinolaryngology/Head & Neck Surgery , Hamamatsu University School of Medicine , Hamamatsu-shi , Shizuoka , Japan.
出版信息
Semin Ophthalmol. 2018;33(4):560-565. doi: 10.1080/08820538.2017.1340487. Epub 2017 Jul 5.
PURPOSE
EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2).
METHODS
Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations. Clinical analyses were based on ophthalmic and otolaryngologic examinations.
RESULTS
In all patients, the fundus displayed changes typical of RP. Most patients showed relatively well-preserved visual acuity in their thirties or forties, with rapid deterioration in their fifties. Concentric constriction started in the twenties or thirties, and no effective residual visual field was observed after the fifties.
CONCLUSIONS
The visual outcome for non-syndromic RP or USH2 patients with USH2A mutations is consistent with that for RP patients with EYS mutations.
目的
EYS和USH2A是日本视网膜色素变性（RP）最常见的致病基因。我们确定了USH2A相关非综合征性RP或II型Usher综合征（USH2）的临床结局。
方法
纳入两名非综合征性RP患者和11名先前已鉴定出USH2A突变的USH2患者。使用标准程序收集他们完整的病史和病历。将视野和视力与EYS突变患者进行比较。临床分析基于眼科和耳鼻喉科检查。
结果
所有患者眼底均显示出RP的典型变化。大多数患者在三十多岁或四十多岁时视力相对保留良好，五十多岁时迅速恶化。二十多岁或三十多岁时开始出现向心性视野缩小，五十多岁后未观察到有效的残余视野。
结论
具有USH2A突变的非综合征性RP或USH2患者的视觉结局与具有EYS突变的RP患者一致。
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