Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.
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DOI：
10.1016/j.ajo.2022.08.013
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发表时间：
2022-12
影响因子：
4.2
通讯作者：
Farsiu, Sina
中科院分区：
文献类型：
--
作者：
Lad, Eleonora M.;Duncan, Jacque L.;Liang, Wendi;Maguire, Maureen G.;Ayala, Allison R.;Audo, Isabelle;Birch, David G.;Carroll, Joseph;Cheetham, Janet K.;Durham, Todd A.;Fahim, Abigail T.;Loo, Jessica;Deng, Zengtian;Mukherjee, Dibyendu;Heon, Elise;Hufnagel, Robert B.;Guan, Bin;Iannaccone, Alessandro;Jaffe, Glenn J.;Kay, Christine N.;Michaelides, Michel;Pennesi, Mark E.;Vincent, Ajoy;Weng, Christina Y.;Farsiu, Sina
研究USH 2A相关视网膜变性进展率（RUSH 2A）研究中的基线中间视觉微视野检查（MP）和光谱域光学相干断层扫描（OCT）。在欧洲和北美的16个临床中心进行的自然史研究受试者患有2型Usher综合征（USH 2）（N=80）或与USH 2A双等位基因致病序列变异相关的常染色体隐性非综合征RP（ARRP）（N=47）。一般线性模型用于评估特征，包括疾病持续时间、MP平均灵敏度和OCT完整椭圆区（EZ）面积。使用斯皮尔曼相关系数评估平均敏感度和EZ面积与其他测量指标（包括最佳矫正视力（BCVA）和中央1 mm内的中央子场厚度（CST））之间的相关性。MP的平均灵敏度; OCT的EZ面积和CST所有参与者（N=127）都进行了OCT，而MP是在选定的部位获得的（N= 93）。2型Usher综合征患者（USH 2，N=80）和非综合征型常染色体隐性视网膜色素变性（ARRP，N=47）具有以下相似的测量值：（中位数（四分位距[IQR]）：1.4（0.4，3.1）mm2 vs 2.3（0.7，5.7）mm 2）和CST（中位数（IQR）：247（223，280）μm vs 261（246，288）），以及平均灵敏度（中位数（IQR）：3.5（2.1，8.4）dB vs 5.1（2.9，9.0）dB）。病程越长，EZ面积越小（P<0.001），平均敏感性越低（P=0.01）。BCVA越好、EZ面积越大、CST越大，平均敏感度越高（r>0.3，P<0.01）。最佳矫正视力和CST越大，EZ面积越大（r>0.6，P<0.001）。病程越长，视网膜结构和功能异常越严重，MP和OCT指标之间存在相关性。监测疾病进展过程中视网膜结构-功能关系的变化将为USH 2A相关视网膜变性的疾病机制提供重要见解。国际自然史研究USH 2A相关视网膜变性进展率（RUSH 2A）招募了80名2型Usher综合征患者和47名与USH 2A基因双等位基因变异相关的常染色体隐性视网膜色素变性患者。基线时，病程越长，视网膜结构越严重（椭圆区面积越小），功能异常越严重（微视野检查的平均视网膜敏感度越低）。微视野和光学相干断层扫描指标之间的结构-功能关联被确定。
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. Natural history study 16 clinical sites in Europe and North America 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 USH2A. 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. Mean sensitivity on MP; EZ area and CST on OCT 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) mm2 vs 2.3 (0.7, 5.7) mm2) 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). 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. The international, natural history study Rate of Progression in USH2A-related Retinal Degeneration (RUSH2A) enrolled 80 participants with Usher syndrome type 2 and 47 with autosomal recessive retinitis pigmentosa associated with biallelic variants in the USH2A gene. At baseline, longer disease duration correlated with more severe retinal structure (smaller ellipsoid zone area) and functional abnormalities (lower mean retinal sensitivity on microperimetry). A structure-function association was identified between microperimetry and optical coherence tomography metrics.
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影响因子：
3
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
通讯作者：
Foundation Fighting Blindness Consortium Investigator Group
X连锁性视网膜炎的患者外部段层进展的光谱域光学相干断层扫描测量。
影响因子：
8.1
作者：
Birch, David G.;Locke, Kirsten G.;Wen, Yuquan;Locke, Kelly I.;Hoffman, Dennis R.;Hood, Donald C.
通讯作者：
Hood, Donald C.
影响因子：
3.7
作者：
Funatsu, Jun;Murakami, Yusuke;Ikeda, Yasuhiro
通讯作者：
Ikeda, Yasuhiro
影响因子：
13.7
作者：
Birch, David G.;Locke, Kirsten G.;Felius, Joost;Klein, Martin;Wheaton, Dianna K. H.;Hoffman, Dennis R.;Hood, Donald C.
通讯作者：
Hood, Donald C.
影响因子：
1.1
作者：
Amidror, I
通讯作者：
Amidror, I