Mutations in photoreceptor cilium genes CEP290 and NPHP5 cause a form of Leber congenital amaurosis (LCA) which typically lacks rods but retains central cones. The current study evaluated the transient pupillary light reflex (TPLR) as an objective outcome measure to assess efficacy of ongoing and future therapies. Eleven eyes of six patients selected for retained cone function were tested with TPLR using full-field stimuli in the dark-adapted state. Stimuli were red or blue with 1 s duration and spanned a 6-log unit dynamic range. TPLR response amplitude was quantified at fixed times of 0.9 and 2 s after stimulus onset and TPLR latency was defined as the time to reach 0.3 mm constriction. Full-field stimulus testing (FST) and static perimetry were used to correlate subjective perception with objective TPLR parameters. TPLR and FST thresholds with both red and blue stimuli were abnormally elevated in patients to near -1.25 log phot-cd·m-2 consistent with the lack of rods. TPLR latencies were delayed on average but showed some differences among patients. Remnant extrafoveal vision was correlated with faster TPLR latencies. Our results support the use of a short TPLR protocol with full-field red stimuli of 0.7 log phot-cd·m-2 or brighter as an objective and convenient outcome measure of cone function in CEP290- and NPHP5-LCA. The latency parameter of the TPLR would be expected to show a detectable change when an intervention modifies cone sensitivity in the extrafoveal region.

中文翻译：

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CEP290 或 NPHP5 相关 Leber 先天性黑蒙中的短暂瞳孔光反射：潜伏期作为视锥细胞功能的潜在结果测量。


光感受器纤毛基因 CEP290 和 NPHP5 的突变会导致一种莱伯先天性黑蒙 (LCA)，这种病通常缺乏视杆细胞，但保留中央视锥细胞。目前的研究评估了短暂性瞳孔光反射（TPLR）作为客观结果指标，以评估正在进行和未来治疗的疗效。选择保留视锥功能的 6 名患者的 11 只眼睛在暗适应状态下使用全视野刺激进行 TPLR 测试。刺激为红色或蓝色，持续时间为 1 秒，跨越 6 个对数单位动态范围。 TPLR 反应幅度在刺激开始后 0.9 秒和 2 秒的固定时间进行量化，TPLR 潜伏期定义为达到 0.3 毫米收缩的时间。使用全场刺激测试 (FST) 和静态视野检查将主观感知与客观 TPLR 参数相关联。患者在红色和蓝色刺激下的 TPLR 和 FST 阈值异常升高至接近 -1.25 log phot-cd·m-2 ，这与视杆细胞缺失一致。 TPLR 潜伏期平均延迟，但在患者之间表现出一些差异。残余中心凹外视力与更快的 TPLR 潜伏期相关。我们的结果支持使用具有 0.7 log phot-cd·m-2 或更亮的全场红色刺激的短 TPLR 协议作为 CEP290-和 NPHP5-LCA 中视锥细胞功能的客观且方便的结果测量。当干预改变中心凹外区域的视锥细胞敏感性时，TPLR 的潜伏期参数预计会显示出可检测到的变化。