Goldman Emanuel, Hendler Karen, Yahalom Claudia
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
Eye (Lond). 2025 Apr;39(5):958-962. doi: 10.1038/s41433-024-03504-4. Epub 2024 Dec 5.
Nystagmus in infancy may occur as part of an ocular condition, a neurological disorder or be idiopathic. The objective of our study was to evaluate the main causes for nystagmus in infants aged 0-1 year, the accompanying clinical characteristics and the effectiveness of different diagnostic tests used for reaching definite diagnosis.
A retrospective study was conducted on medical records of infants who were seen at a tertiary hospital between 2016 and 2021. Clinical data were obtained including age at presentation, presence of strabismus, refractive errors, auxiliary tests performed to reach diagnosis, and initial versus final diagnosis.
This study included 147 infants. The most common ocular pathology causing nystagmus was albinism followed by inherited retinal diseases (IRDs). Main tests that helped reach diagnosis included clinical examination, genetic testing and electroretinogram (ERG). Vertical nystagmus was seen in 8/147 infants; among them 4 had an IRD as a final diagnosis. The most common associated clinical characteristics were high hypermetropia and strabismus.
The most common causes for nystagmus during the first year of age were albinism and IRDs. The most useful diagnostic tests to reach diagnosis were ERG together with genetic testing for IRDs and clinical ophthalmologic examination for albinism. IRDs play an important role as the cause for nystagmus in infants; this diagnosis can be often missed during the first months of life and a vertical nystagmus wave is commonly observed in this group. Nystagmus secondary to a neurologic condition is rare in this age group.
婴儿期眼球震颤可能是眼部疾病、神经系统疾病的一部分，或者是特发性的。我们研究的目的是评估0至1岁婴儿眼球震颤的主要原因、伴随的临床特征以及用于明确诊断的不同诊断测试的有效性。
对2016年至2021年在一家三级医院就诊的婴儿的病历进行回顾性研究。获取的临床数据包括就诊年龄、斜视情况、屈光不正、为明确诊断而进行的辅助检查以及初步诊断与最终诊断。
本研究纳入了147名婴儿。导致眼球震颤最常见的眼部病理情况是白化病，其次是遗传性视网膜疾病（IRD）。有助于明确诊断的主要检查包括临床检查、基因检测和视网膜电图（ERG）。147名婴儿中有8名出现垂直性眼球震颤；其中4名最终诊断为IRD。最常见的相关临床特征是高度远视和斜视。
1岁以内婴儿眼球震颤最常见的原因是白化病和IRD。最有助于明确诊断的检查是ERG以及针对IRD的基因检测和针对白化病的临床眼科检查。IRD是婴儿眼球震颤的重要病因；在生命的最初几个月，这种诊断常常会被漏诊，并且在这组婴儿中通常会观察到垂直性眼球震颤波。在这个年龄组中，继发于神经系统疾病的眼球震颤很少见。
