METHODS: Retrospective observational study.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
方法:回顾性观察研究。
方法:我们回顾了2008年6月至2011年11月龄年龄小于6个月的患者的医疗记录,这些患者在正常的眼部检查后表现为眼球震颤,没有其他神经系统症状。完整的眼科检查和ERG(NicoletBravo系统;NicoletBiomedial&RETIScan;RolandInstruments),眼底摄影,进行了Ishihara颜色测试以确定先天性眼球震颤的任何眼科原因。
结果:33例患者符合标准。4例患者(12.1%)诊断为杆功能障碍,锥体功能障碍2例(6.1%),1例(3.0%)锥杆功能障碍。2例患者的ERG结果为阴性(6.1%)。根据正常的ERG检查,其余24例患者(72.7%)被诊断为特发性婴儿眼球震颤。
结论:在眼底检查正常的韩国先天性眼球震颤患者中,色盲和Leber的先天性黑蒙是罕见的原因。对于眼底检查正常的先天性特发性眼球震颤患者,需要ERG进行明确的诊断并提供预后信息。