Departments of Ophthalmology and Neurology, Mayo Clinic, Rochester, Minnesota.
Ophthalmology. 2017 Jun;124(6):835-842. doi: 10.1016/j.ophtha.2017.01.050. Epub 2017 Apr 3.
Clinical diagnosis has been supplemented by neuroimaging advances, genetic discoveries, and molecular research to generate new neurobiological discoveries pertaining to early maldevelopment of ocular motor control systems. In this focused review, I examine recent paradigm shifts that have transformed our understanding of pediatric ocular motor disease at the prenuclear and infranuclear levels. The pathogenesis of complex ocular motor disorders, such as paradoxical pupillary constriction to darkness, benign tonic upgaze of infancy, congenital fibrosis syndrome, and the constellation of unique eye movements that accompany Joubert syndrome, are elucidated.
临床诊断已通过神经影像学的进步、基因发现和分子研究得到补充,从而产生了与眼动控制系统早期发育不良相关的新神经生物学发现。在本次重点综述中,我探讨了最近的范式转变,这些转变改变了我们对神经核前和神经核下水平小儿眼动疾病的理解。阐明了复杂眼动障碍的发病机制,例如对黑暗的瞳孔反常收缩、婴儿良性紧张性上视、先天性纤维化综合征以及伴随 Joubert 综合征的独特眼球运动组合。