Roman Alejandro J, Cideciyan Artur V, Wu Vivian, Garafalo Alexandra V, Jacobson Samuel G
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Scheie Eye Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Prog Retin Eye Res. 2022 Mar;87:101000. doi: 10.1016/j.preteyeres.2021.101000. Epub 2021 Aug 28.
Disease mechanisms have become better understood in previously incurable forms of early-onset severe retinal dystrophy, such as Leber congenital amaurosis (LCA). This has led to novel treatments and clinical trials that have shown some success. Standard methods to measure vision were difficult if not impossible to perform in severely affected patients with low vision and nystagmus. To meet the need for visual assays, we devised a psychophysical method, which we named full-field stimulus testing (FST). From early versions based on an automated perimeter, we advanced FST to a more available light-emitting diode platform. The journey from invention to use of such a technique in our inherited retinal degeneration clinic is reviewed and many of the lessons learned over the 15 years of application of FST are explained. Although the original purpose and application of FST was to quantify visual thresholds in LCA, there are rare opportunities for FST also to be used beyond LCA to measure aspects of vision in other inherited retinal degenerations; examples are given. The main goal of the current review, however, remains to enable investigators studying and treating LCA to understand how to best use FST and how to reduce artefact and confounding complexities so the test results become more valuable to the understanding of LCA diseases and results of novel interventions.
在诸如莱伯先天性黑蒙（LCA）等以前无法治愈的早发性严重视网膜营养不良形式中，疾病机制已得到更好的理解。这催生了新的治疗方法和临床试验，并取得了一些成功。对于视力严重受损且伴有眼球震颤的患者，即便不是不可能，采用标准方法测量视力也十分困难。为满足视觉检测的需求，我们设计了一种心理物理学方法，将其命名为全视野刺激测试（FST）。从基于自动视野计的早期版本开始，我们将FST改进为更通用的发光二极管平台。本文回顾了从这项技术的发明到在我们的遗传性视网膜变性诊所应用的历程，并解释了在FST应用的15年中汲取的许多经验教训。尽管FST的最初目的和应用是量化LCA中的视觉阈值，但在LCA之外，FST也有罕见的机会用于测量其他遗传性视网膜变性的视力方面；文中给出了相关示例。然而，本次综述的主要目标仍然是使研究和治疗LCA的研究人员了解如何最佳地使用FST，以及如何减少假象和混淆的复杂性，从而使测试结果对于理解LCA疾病和新干预措施的结果更具价值。
