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Abstract：
Inherited retinal dystrophies encompass a diverse group of disorders affecting the structure and function of the retina, leading to progressive visual impairment and, in severe cases, blindness. Electrophysiology testing has emerged as a valuable tool in assessing and diagnosing those conditions, offering insights into the function of different parts of the visual pathway from retina to visual cortex and aiding in disease classification. This review provides an overview of the application of electrophysiology testing in the non-macular inherited retinal dystrophies focusing on both common and rare variants, including retinitis pigmentosa, progressive cone and cone-rod dystrophy, bradyopsia, Bietti crystalline dystrophy, late-onset retinal degeneration, and fundus albipunctatus. The different applications and limitations of electrophysiology techniques, including multifocal electroretinogram (mfERG), full-field ERG (ffERG), electrooculogram (EOG), pattern electroretinogram (PERG), and visual evoked potential (VEP), in the diagnosis and management of these distinctive phenotypes are discussed. The potential for electrophysiology testing to allow for further understanding of these diseases and the possibility of using these tests for early detection, prognosis prediction, and therapeutic monitoring in the future is reviewed.
摘要：
遗传性视网膜营养不良包括影响视网膜结构和功能的多种疾病，导致进行性视力障碍，在严重的情况下，失明。电生理测试已成为评估和诊断这些疾病的宝贵工具，提供从视网膜到视觉皮层的视觉通路的不同部分的功能的见解，并帮助疾病分类。这篇综述概述了电生理测试在非黄斑遗传性视网膜营养不良中的应用，重点是常见和罕见的变体。包括视网膜色素变性,进行性圆锥和圆锥棒营养不良，弱视,Bietti晶体营养不良,晚发性视网膜变性,和双斑眼底。电生理学技术的不同应用和局限性，包括多焦视网膜电图（mfERG），全场ERG(ffERG)，眼电图（EOG），模式视网膜电图（PERG），和视觉诱发电位（VEP），讨论了这些独特表型的诊断和管理。电生理测试的潜力，以便进一步了解这些疾病，并使用这些测试进行早期检测的可能性，预后预测，并对未来的治疗监测进行了回顾。
