RUSH2A 研究中的基线微视野计和 OCT：结构-功能相关性及其与疾病严重程度的关系。
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
机构信息
From the Department of Ophthalmology, Duke University Medical Center Durham, North Carolina, USA.
Department of Ophthalmology, University of California, San Francisco, California, USA.
出版信息
Am J Ophthalmol. 2022 Dec;244:98-116. doi: 10.1016/j.ajo.2022.08.013. Epub 2022 Aug 22.
PURPOSE
To investigate baseline mesopic microperimetry (MP) and spectral domain optical coherence tomography (OCT) in the Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) study.
DESIGN
Natural history study METHODS: Setting: 16 clinical sites in Europe and North AmericaStudy Population: Participants with Usher syndrome type 2 (USH2) (N = 80) or autosomal recessive nonsyndromic RP (ARRP) (N = 47) associated with biallelic disease-causing sequence variants in USH2AObservation Procedures: General linear models were used to assess characteristics including disease duration, MP mean sensitivity and OCT intact ellipsoid zone (EZ) area. The associations between mean sensitivity and EZ area with other measures, including best corrected visual acuity (BCVA) and central subfield thickness (CST) within the central 1 mm, were assessed using Spearman correlation coefficients.
MAIN OUTCOME MEASURES
Mean sensitivity on MP; EZ area and CST on OCT.
RESULTS
All participants (N = 127) had OCT, while MP was obtained at selected sites (N = 93). Participants with Usher syndrome type 2 (USH2, N = 80) and nonsyndromic autosomal recessive Retinitis Pigmentosa (ARRP, N = 47) had the following similar measurements: EZ area (median (interquartile range [IQR]): 1.4 (0.4, 3.1) mm vs 2.3 (0.7, 5.7) mm) and CST (median (IQR): 247 (223, 280) µm vs 261 (246, 288), and mean sensitivity (median (IQR): 3.5 (2.1, 8.4) dB vs 5.1 (2.9, 9.0) dB). Longer disease duration was associated with smaller EZ area (P < 0.001) and lower mean sensitivity (P = 0.01). Better BCVA, larger EZ area, and larger CST were correlated with greater mean sensitivity (r > 0.3 and P < 0.01). Better BCVA and larger CST were associated with larger EZ area (r > 0.6 and P < 0.001).
CONCLUSIONS
Longer disease duration correlated with more severe retinal structure and function abnormalities, and there were associations between MP and OCT metrics. Monitoring changes in retinal structure-function relationships during disease progression will provide important insights into disease mechanism in USH2A-related retinal degeneration.
目的
在 USH2A 相关视网膜退行性变的进展率研究（RUSH2A）中，研究暗视力微视野计（MP）和光谱域光相干断层扫描（OCT）的基线情况。
设计
自然史研究
方法
地点：欧洲和北美的 16 个临床站点
研究人群
患有 2 型 Usher 综合征（USH2）（N=80）或常染色体隐性非综合征性视网膜色素变性（ARRP）（N=47）的参与者，他们均携带 USH2A 双等位基因致病序列变异
观察程序
使用线性混合模型评估特征，包括疾病持续时间、MP 平均敏感度和 OCT 完整椭圆体带（EZ）区域。使用 Spearman 相关系数评估平均敏感度与 EZ 区域与其他指标（包括中央 1mm 内最佳矫正视力（BCVA）和中央区视网膜厚度（CST））之间的相关性。
主要观察指标
MP 平均敏感度；OCT 的 EZ 区域和 CST。
结果
所有参与者（N=127）均进行了 OCT 检查，而仅在部分地点（N=93）进行了 MP 检查。患有 2 型 Usher 综合征（USH2，N=80）和非综合征性常染色体隐性视网膜色素变性（ARRP，N=47）的参与者具有以下相似的测量结果：EZ 区域（中位数（四分位距[IQR]）：1.4（0.4，3.1）mm 与 2.3（0.7，5.7）mm）和 CST（中位数（IQR）：247（223，280）µm 与 261（246，288）µm，平均敏感度（中位数（IQR）：3.5（2.1，8.4）dB 与 5.1（2.9，9.0）dB）。疾病持续时间越长，EZ 区域越小（P<0.001），平均敏感度越低（P=0.01）。更好的 BCVA、更大的 EZ 区域和更大的 CST 与更高的平均敏感度相关（r>0.3，P<0.01）。更好的 BCVA 和更大的 CST 与更大的 EZ 区域相关（r>0.6，P<0.001）。
结论
疾病持续时间与更严重的视网膜结构和功能异常相关，MP 和 OCT 指标之间存在关联。监测疾病进展过程中视网膜结构-功能关系的变化，将为了解 USH2A 相关视网膜退行性变的发病机制提供重要线索。
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