Abstract：
BACKGROUND: Voretigene neparvovec (Luxturna®) is the first approved gene therapy for RPE65-linked Leber congenital amaurosis (LCA). Though individual effects are highly variable, most recipients report improved vision in everyday life. To describe such effects, visual navigation tests are now frequently used in clinical trials. However, it is still unclear how their results should be interpreted compared to conventional parameters of visual function.
METHODS: Seven LCA patients underwent a multi-luminance visual navigation test (Ora-VNCTM) before and 3 months after receiving Luxturna gene therapy. Their performance was rated based on the luminance level at which they passed the course. Differences between the first and second test were correlated to changes in visual acuity, full-field stimulus thresholds, chromatic pupil campimetry, and dark-adapted perimetry.
RESULTS: A few patients displayed notable improvements in conventional measures of visual function whereas patients with advanced retinal degeneration showed no relevant changes. Independent of these results, almost all participants improved in the visual navigation task by one or more levels. The improvement in the mobility test was best correlated to the change in full-field stimulus thresholds. Other measures of visual functions showed no clear correlation with visual navigation.
CONCLUSIONS: In patients who passed the test\'s more difficult levels, improved visual navigation can be attributed to the reactivation of rods. However, the performance of patients with low vision seemed to depend much more on confounding factors in the easier levels. In sum, such tests might only be meaningful for patients with better preserved visual functions.
METHODS: Seven LCA patients underwent a multi-luminance visual navigation test (Ora-VNCTM) before and 3 months after receiving Luxturna gene therapy. Their performance was rated based on the luminance level at which they passed the course. Differences between the first and second test were correlated to changes in visual acuity, full-field stimulus thresholds, chromatic pupil campimetry, and dark-adapted perimetry.
RESULTS: A few patients displayed notable improvements in conventional measures of visual function whereas patients with advanced retinal degeneration showed no relevant changes. Independent of these results, almost all participants improved in the visual navigation task by one or more levels. The improvement in the mobility test was best correlated to the change in full-field stimulus thresholds. Other measures of visual functions showed no clear correlation with visual navigation.
CONCLUSIONS: In patients who passed the test\'s more difficult levels, improved visual navigation can be attributed to the reactivation of rods. However, the performance of patients with low vision seemed to depend much more on confounding factors in the easier levels. In sum, such tests might only be meaningful for patients with better preserved visual functions.
摘要：
背景：Voretigeneneparvovec（Luxturna®）是第一个被批准用于RPE65连锁Leber先天性黑蒙（LCA）的基因疗法。虽然个体的影响是高度可变的，大多数收件人报告改善了日常生活中的视力。为了描述这种影响，视觉导航测试现在经常用于临床试验。然而,与常规视觉功能参数相比,他们的结果应如何解释尚不清楚.
方法：7例LCA患者在接受Luxturna基因治疗之前和之后3个月接受了多亮度视觉导航测试（Ora-VNCTM）。根据他们通过课程的亮度等级对他们的表现进行评级。第一次和第二次测试之间的差异与视力的变化有关，全场刺激阈值，彩色瞳孔运动法，和暗适应视野检查。
结果：少数患者在常规视觉功能测量方面表现出显著改善，而晚期视网膜变性患者则未表现出相关改变。独立于这些结果，几乎所有参与者在视觉导航任务中都提高了一个或多个级别。迁移率测试的改善与全场刺激阈值的变化最相关。视觉功能的其他测量与视觉导航没有明显的相关性。
结论：在通过测试的更困难水平的患者中，改进的视觉导航可以归因于杆的重新激活。然而,低视力患者的表现似乎更多地取决于更容易水平的混杂因素.总之,这样的测试可能只对视觉功能保存得更好的患者有意义。
方法：7例LCA患者在接受Luxturna基因治疗之前和之后3个月接受了多亮度视觉导航测试（Ora-VNCTM）。根据他们通过课程的亮度等级对他们的表现进行评级。第一次和第二次测试之间的差异与视力的变化有关，全场刺激阈值，彩色瞳孔运动法，和暗适应视野检查。
结果：少数患者在常规视觉功能测量方面表现出显著改善，而晚期视网膜变性患者则未表现出相关改变。独立于这些结果，几乎所有参与者在视觉导航任务中都提高了一个或多个级别。迁移率测试的改善与全场刺激阈值的变化最相关。视觉功能的其他测量与视觉导航没有明显的相关性。
结论：在通过测试的更困难水平的患者中，改进的视觉导航可以归因于杆的重新激活。然而,低视力患者的表现似乎更多地取决于更容易水平的混杂因素.总之,这样的测试可能只对视觉功能保存得更好的患者有意义。
