Richards Michael D, Wong Agnes
Department of Ophthalmology & Vision Sciences, The Hospital for Sick Children; Department of Ophthalmology & Vision Sciences, University of Toronto, Toronto, Ont..
Department of Ophthalmology & Vision Sciences, The Hospital for Sick Children; Department of Ophthalmology & Vision Sciences, University of Toronto, Toronto, Ont.
Can J Ophthalmol. 2015 Dec;50(6):400-8. doi: 10.1016/j.jcjo.2015.07.010.
Infantile nystagmus syndrome (INS) is an important clinical diagnosis because it is a common presenting sign of many ocular, neurologic, and systemic diseases. Although INS has been studied for more than a century, its diagnosis and treatment remains a challenge to clinicians because of its varied manifestations and multiple associations, and its pathogenesis continues to rouse considerable scientific debate. Fueled by these challenges, recent basic research and clinical investigations have provided new insights into INS. New genetic discoveries and technological advances in ocular imaging have refined our understanding of INS subtypes and offer new diagnostic possibilities. Unexpected surgical outcomes have led to new understanding of its pathogenesis based on novel hypothesized pathways of ocular motor control. Comparative studies on nonhuman visual systems have also informed models of the neural substrate of INS in humans. This review brings together the classic profile of this disorder with recent research to provide an update on the clinical features of INS, an overview of the current theories on how and why INS develops, and a practical approach to the diagnosis and management of INS.
婴儿眼球震颤综合征（INS）是一项重要的临床诊断，因为它是许多眼部、神经和全身性疾病常见的表现体征。尽管对INS的研究已超过一个世纪，但由于其表现多样、关联众多，其诊断和治疗对临床医生而言仍是一项挑战，并且其发病机制仍引发大量科学争论。受这些挑战的推动，近期的基础研究和临床调查为INS提供了新的见解。新的基因发现和眼部成像技术的进步加深了我们对INS亚型的理解，并提供了新的诊断可能性。意外的手术结果基于眼部运动控制的新假设途径，使我们对其发病机制有了新的认识。对非人类视觉系统的比较研究也为人类INS的神经基质模型提供了信息。本综述将该疾病的经典特征与近期研究结合起来，以提供INS临床特征的最新情况、关于INS如何以及为何发生的当前理论概述，以及INS诊断和管理实用方法。
