CAJ | 학술논문

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.
목적 관찰아국선천성정지성야맹(CSNB)환자적림상특정.방법 대2003년12월지2011년12월기간북경협화의원안과진단22례CSNB환자진행병례계렬연구.남16례,녀6례,년령4～73세.기록소유환자병사、가족사,상세검사안전후절.소유환자균접수료시망막전도(ERG)검사,13례행광학상간단층소묘(OCT)급9례행시야검사.결과 7례가족중유유사환자.수진이야맹혹시력하강위주요증상；13례(59.1％)유야맹주소,16례(72.7％)쌍안최가교정시력저우0.8;4례유안구진전；4례합병유사시.안저표현:21례위정상혹고도근시안저개변,점95.5％；1례위당뇨병안저개변.시야결과시9례주변불규칙결실.ERG검사시21례환자표현위Schubert-Bornstein부파형(완전형13례,점61.9％,불완전형8례,점38.1％),1례표현위Riggs형.아원취진전,부2례환자의진위CSNB,기타진단위고도근시,약시혹시망막색소변성.결론 선천성정지성야맹이시력하강위주요표현,약50％환자유야맹.해병재아국오진솔흔고,ERG검사시진단중요수단.아국완전형선천성정지성야맹경다견.
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.