Abstract：
The aim of the present study is to determine how electroretinographic (ERG) responses reflect age-related disease progression in the Stargardt disease (STGD1). The prospective comparative cohort study included 8 patients harboring two null ABCA4 variants (Group 1) and 34 patients with other ABCA4 genotypes (Group 2). Age at exam, age at onset, visual acuity (VA) and ERG responses were evaluated. The correlation between ERG responses and age in each patient group was determined using linear regression. A Mann-Whitney U Test was used to compare the median values between the groups. Age of onset was significantly earlier in Group 1 than in Group 2 (8 vs. 18), while disease duration was similar (13 vs. 12 years, i.e., advanced stage). Group 1 had significantly worse VA and lower ERG responses. ERG responses that significantly correlated with age in Group 1 were DA 0.01 and 3.0 ERG, which represented a retinal rod system response. The only ERG response that significantly correlated with age in Group 2 was the S-cone ERG. The observed difference was likely due to early cone loss occurring in double-null patients and slower photoreceptor loss in patients with other genotypes. The results suggest that specific ERG responses may be used to detect double-null patients at an early stage and monitor STGD1 disease progression in patients with specific genotypes.
摘要：
本研究的目的是确定视网膜电图（ERG）反应如何反映Stargardt病（STGD1）中与年龄相关的疾病进展。前瞻性比较队列研究包括8例具有两种无效ABCA4变异的患者（第1组）和34例具有其他ABCA4基因型的患者（第2组）。考试年龄,发病年龄,评估视力(VA)和ERG反应.使用线性回归确定每个患者组的ERG反应与年龄之间的相关性。使用Mann-WhitneyU检验比较各组之间的中值。第1组的发病年龄明显早于第2组（8vs.18),而疾病持续时间相似(13vs.12年,即，高级阶段)。第1组具有显著较差的VA和较低的ERG反应。与第1组年龄显著相关的ERG反应为DA0.01和3.0ERG，这代表了视网膜杆系统的反应。在第2组中，唯一与年龄显着相关的ERG反应是S-锥ERG。观察到的差异可能是由于双无效患者的早期视锥丢失和其他基因型患者的光感受器丢失较慢。结果表明，特定的ERG反应可用于早期检测双无效患者，并监测具有特定基因型的患者的STGD1疾病进展。
