Duchenne 型肌营养不良症的暗适应杆状阈值升高与 ERG 反应缺陷之间的相关性。
Correlations Between Dark-Adapted Rod Threshold Elevations and ERG Response Deficits in Duchenne Muscular Dystrophy.
机构信息
Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
Department of Experimental Psychology, Institute of Psychology, University of Sao Paulo, Brazil.
出版信息
Invest Ophthalmol Vis Sci. 2021 Apr 1;62(4):29. doi: 10.1167/iovs.62.4.29.
PURPOSE
The purpose of this study was to characterize changes in the full-field flash electroretinogram (ERG) in association with psychophysical dark-adapted visual thresholds in patients with genetically characterized Duchenne muscular dystrophy (DMD) either lacking Dp427 (Up 30) or at least Dp260 in addition to Dp427 (Down 30).
METHODS
Twenty-one patients with DMD and 27 age-similar controls participated in this study. Dark-adapted (0.01, 3.0, and 10 cd.s/m² flashes) and light-adapted (3.0 cd.s/m² flash) ERGs were recorded following International Society for Clinical Electrophysiology of Vision (ISCEV) standard protocols. Visual detection thresholds to 625-nm (cone function) and 527-nm (rod function) light-emitting diode (LED) flashes (2 degree diameter) were measured during a dark adaptation period after a 1-minute exposure to a bleaching light (3000 cd/m²). Initially, 8 minutes of interleaved 625-nm and 527-nm thresholds were measured. After an additional 5 minutes of dark-adaptation, a second set of threshold measurements to 527-nm stimuli was performed during the subsequent 6 minutes.
RESULTS
Dark-adapted b-wave amplitude was significantly reduced to all strengths of flash and a-wave in response to the strong flash stimulus was delayed (15.6 vs. 14.7 ms, P < 0.05) in patients with Down 30 compared with controls. Dark-adapted cone thresholds did not differ among the groups (-2.0, -1.8, and -1.7 log cd/m² for Down 30, Up 30, and controls, respectively, P = 0.21). In contrast, dark-adapted rod thresholds were elevated (F(2,36) = 8.537, P = 0.001) in patients with Down 30 (mean = -3.2 ± 1.1 log cd/m²) relative to controls (mean = -4.2 ± 0.3 log cd/m²). Dark-adapted b-wave amplitudes were correlated with dark-adapted rod sensitivity in patients with DMD (Spearman Rho = 0.943, P = 0.005). The changes were much smaller or absent in patients with intact Dp260.
CONCLUSIONS
Dp260 is particularly required for normal rod-system function in dark adaptation.
目的
本研究旨在描述在具有遗传特征的杜兴氏肌营养不良症（DMD）患者中，全视野闪光视网膜电图（ERG）与心理物理暗适应视觉阈值的变化，这些患者要么缺乏 Dp427（Up 30），要么除了 Dp427 之外至少还缺乏 Dp260（Down 30）。
方法
本研究纳入了 21 名 DMD 患者和 27 名年龄匹配的对照者。按照国际临床电生理学视觉协会（ISCEV）的标准方案，记录暗适应（0.01、3.0 和 10 cd·s/m² 闪烁）和明适应（3.0 cd·s/m² 闪烁）ERG。在 3000 cd/m² 的漂白光照射 1 分钟后，进行暗适应期，测量 625nm（锥体细胞功能）和 527nm（视杆细胞功能）发光二极管（LED）闪烁（2 度直径）的视觉检测阈值。最初，测量 8 分钟的 625nm 和 527nm 阈值。在暗适应 5 分钟后，在随后的 6 分钟内，对 527nm 刺激进行第二组阈值测量。
结果
与对照组相比，Down 30 患者的所有强度闪光的暗适应 b 波振幅均显著降低，对强闪光刺激的 a 波反应延迟（15.6 对 14.7 ms，P<0.05）。各组暗适应锥体细胞阈值无差异（Down 30、Up 30 和对照组分别为-2.0、-1.8 和-1.7 log cd/m²，P=0.21）。相比之下，Down 30 患者的暗适应视杆细胞阈值升高（F（2，36）=8.537，P=0.001）（均值=-3.2±1.1 log cd/m²），而对照组（均值=-4.2±0.3 log cd/m²）。DMD 患者的暗适应 b 波振幅与暗适应视杆细胞敏感性相关（Spearman Rho=0.943，P=0.005）。在保留 Dp260 的患者中，这些变化较小或不存在。
结论
Dp260 特别需要正常的视杆系统功能在暗适应。
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