Department of Ophthalmology, Dongtan Sacred Heart Hospital, Hallym University College of Medicine, Hwaseong, Republic of Korea.
Department of Ophthalmology, Soonchunhyang University College of Medicine, Bucheonsi, Gyeonggido, Republic of Korea.
Jpn J Ophthalmol. 2024 May;68(3):243-249. doi: 10.1007/s10384-024-01058-2. Epub 2024 Apr 3.
To identify the ophthalmic causes of congenital nystagmus with normal eye examination by electroretinography (ERG).
Retrospective observational study.
We reviewed the medical records of patients younger than 6 months of age who presented between June 2008 and November 2011 with nystagmus and no other neurological signs following an otherwise normal eye examination. A complete ophthalmic examination and ERG (Nicolet Bravo system; Nicolet Biomedial & RETIscan; Roland Instruments), fundus photography, and Ishihara color test were performed to identify any ophthalmic causes of congenital nystagmus.
Thirty-three patients met the criteria. Rod dysfunction was diagnosed in 4 patients (12.1%), cone dysfunction in 2 patients (6.1%), and cone-rod dysfunction in 1 patient (3.0%). The results of ERG were negative in 2 patients (6.1%). Idiopathic infantile nystagmus was diagnosed in the remaining 24 patients (72.7%) based on their normal ERG examination.
In Korean congenital nystagmus patients with a normal fundus examination, achromatopsia and Leber's congenital amaurosis are uncommon causes. ERG is needed to make a definite diagnosis and provide prognostic information in congenital idiopathic nystagmus patients with a normal fundus examination.
通过视网膜电图（ERG）检查确定眼科正常的先天性眼球震颤的原因。
回顾性观察性研究。
我们回顾了 2008 年 6 月至 2011 年 11 月期间因眼部检查正常但伴有眼球震颤且无其他神经体征的 6 个月以下就诊的患者的病历。对所有患者进行全面的眼科检查和 ERG（Nicolet Bravo 系统；Nicolet Biomedial 和 RETIscan；Roland Instruments）、眼底照相和石原氏色盲检查，以确定先天性眼球震颤的任何眼科原因。
33 例患者符合标准。4 例（12.1%）诊断为杆状细胞功能障碍，2 例（6.1%）诊断为锥状细胞功能障碍，1 例（3.0%）诊断为锥状杆状细胞功能障碍。2 例（6.1%）患者的 ERG 结果为阴性。其余 24 例（72.7%）患者根据正常的 ERG 检查诊断为特发性婴儿性眼球震颤。
在韩国眼科检查正常的先天性眼球震颤患者中，色盲和 Leber 先天性黑矇是罕见的原因。对于眼底检查正常的先天性特发性眼球震颤患者，ERG 有助于明确诊断并提供预后信息。
