Surachatkumtonekul Thammanoon, Ruangvaravate Ngamkae, Sriyakul Chuenchanok
Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
J Med Assoc Thai. 2009 Feb;92(2):224-8.
To identify the ophthalmic causes of congenital nystagmus with normal eye examination by visual electrophysiologic tests.
Medical records of patients who presented with nystagmus and no other neurological sign before 6 months of age with normal eye examination, between February 2004 and February 2005, were reviewed Complete ophthalmic examination and visual electrophysiologic tests were performed to identify the ophthalmic causes of congenital nystagmus.
Thirty-four patients had met the criteria. Leber's congenital amaurosis was diagnosed in 13 patients (38.2%) by non-recordable electroretinography (ERG) and normal visual evoked potential (VEP). Idiopathic infantile nystagmus was diagnosed in 12 patients (35.3%) by normal ERG and VEP. Achromatopsia was diagnosed in 8 patients (23.5%) by flat retinal cone ERG but normal rod ERG and VEP. Rod-cone dystrophy was diagnosed in one patient (3%) by abnormal rod and cone ERG CONCLUSION: Visual electrophysiologic study is helpful to identify the ophthalmic causes of congenital nystagmus. Leber's congenital amaurosis is a common cause in congenital nystagmus.
通过视觉电生理检查确定眼部检查正常的先天性眼球震颤的眼科病因。
回顾2004年2月至2005年2月期间年龄在6个月前出现眼球震颤且无其他神经学体征、眼部检查正常的患者的病历。进行全面的眼科检查和视觉电生理检查以确定先天性眼球震颤的眼科病因。
34例患者符合标准。13例患者（38.2%）通过不可记录的视网膜电图（ERG）和正常的视觉诱发电位（VEP）诊断为莱伯先天性黑矇。12例患者（35.3%）通过正常的ERG和VEP诊断为特发性婴儿眼球震颤。8例患者（23.5%）通过扁平视网膜锥细胞ERG但正常的视杆细胞ERG和VEP诊断为色盲。1例患者（3%）通过异常的视杆和视锥细胞ERG诊断为视杆-视锥营养不良。结论：视觉电生理研究有助于确定先天性眼球震颤的眼科病因。莱伯先天性黑矇是先天性眼球震颤的常见病因。
