The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline.
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DOI：
10.1167/tvst.9.11.9
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发表时间：
2020-10
影响因子：
3
通讯作者：
Foundation Fighting Blindness Consortium Investigator Group
中科院分区：
文献类型：
--
作者：
Birch DG;Cheng P;Duncan JL;Ayala AR;Maguire MG;Audo I;Cheetham JK;Durham TA;Fahim AT;Ferris FL 3rd;Heon E;Huckfeldt RM;Iannaccone A;Khan NW;Lad EM;Michaelides M;Pennesi ME;Stingl K;Vincent A;Weng CY;Foundation Fighting Blindness Consortium Investigator Group
本研究的目的是评价基线最佳矫正视力（BCVA）、全视野视网膜电图（ERG）、全视野刺激阈值（FST）及其与Usher综合征2型（USH 2A）进展率相关视网膜变性（RUSH 2A）多中心研究中基线人口统计学和临床特征的关系。参与者患有Usher综合征2型（USH 2，N = 80）或与USH 2A基因双等位基因变异相关的常染色体隐性遗传非综合征性视网膜色素变性（ARRP，N = 47）。用回归模型评估人口统计学和临床特征与BCVA、ERG和FST的相关性。与ARRP相比，USH 2的BCVA更差（中位数79 vs. 82字母;年龄校正后P < 0.001），较低的杆介导ERG b波振幅（中位数0.0 vs. 6.6 µV; P < 0.001）和30 Hz闪烁视锥介导的ERG振幅（中位数1.5 vs. 3.1 µV; P = 0.001），以及更高的（白色、蓝色和红色）FST阈值（均值[−26，−31，−23 dB] vs. [−39，−45，−28 dB];所有刺激P < 0.001）。校正年龄、性别和视力丧失持续时间后，诊断组之间的BCVA差异减弱（P = 0.09）。只有诊断与视杆细胞和视锥细胞介导的ERG参数相关，而两种性别（P = 0.04）和视力丧失持续时间（P < 0.001）也与FST白色刺激相关。USH 2参与者的BCVA、ERG和FST比ARRP参与者差。FST与疾病持续时间密切相关;它是否是一个敏感的进展指标仍有待确定。使用RUSH 2A的标准化研究方案，已经确定了监测疾病进展和治疗反应的措施，并区分USH 2和ARRP参与者与USH 2A突变之间的预后相关性特征。
The purpose of this study was to evaluate baseline best corrected visual acuity (BCVA), full-field electroretinography (ERG), full-field stimulus thresholds (FST), and their relationship with baseline demographic and clinical characteristics in the Rate of Progression in Usher syndrome type 2 (USH2A)-related Retinal Degeneration (RUSH2A) multicenter study. Participants had Usher syndrome type 2 (USH2, N = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP, N = 47) associated with biallelic variants in the USH2A gene. Associations of demographic and clinical characteristics with BCVA, ERG, and FST were assessed with regression models. In comparison to ARRP, USH2 had worse BCVA (median 79 vs. 82 letters; P < 0.001 adjusted for age), lower rod-mediated ERG b-wave amplitudes (median 0.0 vs. 6.6 µV; P < 0.001) and 30 Hz flicker cone-mediated ERG amplitudes (median 1.5 vs. 3.1 µV; P = 0.001), and higher (white, blue, and red) FST thresholds (means [−26, −31, −23 dB] vs. [−39, −45, −28 dB]; P < 0.001 for all stimuli). After adjusting for age, gender, and duration of vision loss, the difference in BCVA between diagnosis groups was attenuated (P = 0.09). Only diagnosis was associated with rod- and cone-mediated ERG parameters, whereas both genders (P = 0.04) and duration of visual loss (P < 0.001) also were associated with FST white stimulus. USH2 participants had worse BCVA, ERG, and FST than ARRP participants. FST was strongly associated with duration of disease; it remains to be determined whether it will be a sensitive measure of progression. Using standardized research protocols in RUSH2A, measures have been identified to monitor disease progression and treatment response and differentiate features of prognostic relevance between USH2 and ARRP participants with USH2A mutations.
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影响因子：
4
作者：
Kurz CF
通讯作者：
Kurz CF
影响因子：
1.4
作者：
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通讯作者：
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