The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.
The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene.
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DOI：
10.1167/iovs.63.3.17
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发表时间：
2022-03-02
影响因子：
4.4
通讯作者：
Foundation Fighting Blindness Consortium Investigator Group
中科院分区：
文献类型：
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作者：
Birch DG;Samarakoon L;Melia M;Duncan JL;Ayala AR;Audo I;Cheetham JK;Durham TA;Iannaccone A;Pennesi ME;Stingl K;Foundation Fighting Blindness Consortium Investigator Group
为了在ush2a相关视网膜变性（RUSH2A）进展率的一部分参与者中使用双色暗适应彩色视野仪测量视野，研究ush2a介导的综合征（USH2）和常染色体隐性视网膜色素变性，确定保留杆功能的百分比，并从ERG和全视野刺激阈值（FST）中探索暗适应视野（DAVF）和杆功能之间的关系。在DAVF辅助研究参与者（n = 49）的一只眼睛中测量全场视杆平均灵敏度、视杆位点数、最大灵敏度、DAVF全场视丘（DAVF VTOT）和30°视丘（DAVF V30）。在暗适应色度透视中，青色相对于红色灵敏度大于5 dB的位点被认为是杆介导的。估计DAVF测量值与标准临床测量值之间的相关系数，以及DAVF与其他杆功能测量值之间的kappa统计量（κ）的一致性。在49名接受DAVF测试的参与者中，38名（78%）有杆功能的证据，而15名（31%）有可测量的杆erg。DAVF最大灵敏度与FST白阈值高度相关（r = - 0.80; P < 0.001）。虽然无统计学意义，但病程越长，rod基因座数和DAVF VTOT越低，分别为0.82（95%可信区间，- 1.76,0.12）个位点/年和0.59(95%可信区间，- 1.82,0.64)dB-steradians/年。在许多有症状的ush2a相关视网膜变性患者中，包括一些没有可测量的杆erg的患者中，存在杆介导的FST和DAVF功能。RUSH2A纵向数据将确定这些指标如何随疾病进展而变化，以及它们是否对遗传性视网膜变性的纵向研究有用。
To measure visual fields using two-color dark-adapted chromatic perimetry in a subset of participants in the Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A), a study of USH2A-mediated syndromic (USH2) and autosomal recessive nonsyndromic retinitis pigmentosa, determine percentage retaining rod function, and explore relationships between dark-adapted visual fields (DAVF) and rod function from ERG and full-field stimulus thresholds (FST). Full-field rod mean sensitivity, number of rod loci, maximum sensitivity, DAVF full-field hill of vision (DAVF VTOT), and 30° hill of vision (DAVF V30) were measured in one eye for DAVF ancillary study participants (n = 49). Loci where cyan relative to red sensitivity was more than 5 dB on dark-adapted chromatic perimetry were considered rod mediated. Correlation coefficients between the DAVF measures and standard clinical measures were estimated, as were kappa statistics (κ) for agreement between DAVF and other measures of rod function. Of 49 participants tested with DAVF, 38 (78%) had evidence of rod function, whereas 15 (31%) had measurable rod ERGs. DAVF maximum sensitivity was highly correlated with FST white thresholds (r = −0.80; P < .001). Although not statistically significant, the number of rod loci and DAVF VTOT were lower in eyes with longer disease duration by 0.82 (95% confidence interval, −1.76, 0.12) loci/year and 0.59 (95% confidence interval, −1.82, 0.64) dB-steradians/year, respectively. Rod-mediated function on FST and DAVF is present in many patients with symptomatic USH2A-related retinal degeneration, including some without measurable rod ERGs. RUSH2A longitudinal data will determine how these measures change with disease progression and whether they are useful for longitudinal studies in inherited retinal degenerations.
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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
影响因子：
--
作者：
GUNKEL, RD
通讯作者：
GUNKEL, RD
影响因子：
4.4
作者：
Bennett, Lea D.;Metz, Georgiana;Birch, David G.
通讯作者：
Birch, David G.
影响因子：
4.2
作者：
ZEAVIN, BH;WALD, G
通讯作者：
WALD, G
影响因子：
3
作者：
Bennett, Lea D.;Klein, Martin;Birch, David G.
通讯作者：
Birch, David G.