先天性静止性夜盲患者的临床特征  

Clinical features of congenital stationary night blindness

作　　者：李蕙[1] 刘丽英[1] 徐海燕[1] 许菲[1] 姜茹欣[1] 睢瑞芳[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院眼科,100730

出　　处：《中华医学杂志》2012年第39期2756-2759,共4页National Medical Journal of China

基　　金：美国Foundation Fighting Blindness的资助（CD-CL-0808-0470-PUMCH）;国家人力资源和社会保障部2010年留学回国人员优秀项目

摘　　要：目的观察我国先天性静止性夜盲（CSNB）患者的临床特征。方法对2003年12月至2011年12月期间北京协和医院眼科诊断22例CSNB患者进行病例系列研究。男16例，女6例，年龄4～73岁。记录所有患者病史、家族史，详细检查眼前后节。所有患者均接受了视网膜电图（ERG）检查，13例行光学相干断层扫描（OCT）及9例行视野检查。结果7例家族中有类似患者。首诊以夜盲或视力下降为主要症状；13例（59．1％）有夜盲主诉，16例（72．7％）双眼最佳矫正视力低于0．8；4例有眼球震颤；4例合并有斜视。眼底表现：21例为正常或高度近视眼底改变，占95．5％；1例为糖尿病眼底改变。视野结果示9例周边不规则缺失。ERG检查示21例患者表现为Schubert-Bornstein负波型（完全型13例，占61．9％，不完全型8例，占38．1％），1例表现为Riggs型。我院就诊前，仅2例患者疑诊为CSNB，其他诊断为高度近视，弱视或视网膜色素变性。结论先天性静止性夜盲以视力下降为主要表现，约50％患者有夜盲。该病在我国误诊率很高，ERG检查是诊断重要手段。我国完全型先天性静止性夜盲更多见。Objective To explore the clinical features of Chinese patients with congenital stationary night blindness （CSNB）. Methods An observational serial case study was conducted for 22 patients diagnosed as CSNB at Department of Ophthalmology, Peking Union Medical College Hospital from December 2003 through December 2011. Sixteen patients （ 72. 7% ） were males and 6 patients （ 27.3% ） were females. Their age range was 4 -73 years old. All of them underwent detailed ocular examinations including electroretinogram （ERG）. Thirteen patients underwent optical coherence tomography （OCT） while 9 had visual field （VF） testing. Medical and family history was recorded. Results Seven patients had a positive family history. Thirteen patients （59. 1% ） complained of a poor night vision. Best corrected visual acuity was 〈0. 8 in both eyes for 16 patients （72. 7% ）. There were nystagmus （n =4） and strabismus （n =4）. Except for 1 complicated with background diabetic retinopathy, all other patients showed normal or myopic fundi. Nine patients revealed peripheral visual field defects. Twenty-one （95.5%） patients had Schubert- Bornstein type negative ERG while another one had Riggs type ERG. Among 21 Schubert-Bornstein type patients, 13 （61.9%） patients showed complete type CSNB and 8 （38.1%） were of incomplete CSNB. Before referral to our tertiary hospital, only 2 patients were suspected as CSNB. The common primary diagnoses included pathogenic myopia, amblyopia and retinitis pigmentosa. Conclusion CSNB is frequently misdiagnosed in China. Poor visual acuity is one of the major complaints. And around 50% CSNB patients experience night vision problem. Complete CSNB is more common than incomplete type in China.

关 键 词：夜盲 视网膜电图 眼球震颤 屈光不正 

分 类 号：R774.1[医药卫生—眼科]