中国无脉络膜症患者自然病程研究  

Study of natural history of Chinese patients with choroideremia

作　　者：韩筱煦 李蕙[1] 吴世靖 孙子系 周崎[1] 睢瑞芳[1] Han Xiaoxu;Li Hui;Wu Shijing;Sun Zixi;Zhou Qi;Sui Ruifang(Department of OphthalmoIogy,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences,Beijing 100730,China)

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,北京100730

出　　处：《中华实验眼科杂志》2018年第7期519-525,共7页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金项目（81470669）;北京市自然科学基金项目（7152116）;中国医学科学院医学与健康科技创新工程项目（2016-I2M-1-002）

摘　　要：目的分析中国无脉络膜症（CHM）患者的临床表型及基因表型特征，描述CHM患者自然病程变化特点。方法纳入2009年4月至2017年8月就诊于北京协和医院眼科并满足在最短5年内至少随诊2次的CHM患者。对患者进行分子遗传学检测，以及最佳矫正视力、彩色眼底照相、光相干断层扫描（OCT）、视野、全视野视网膜电图（fERG）检查。结果共纳入来自7个家系的10例中国汉族CHM患者。10例患者均经分子遗传学检测明确致病位点，其中2种为新发突变。患者初诊年龄为8～52岁，中位数年龄为44岁。初次－末次就诊时间间隔为5.03～7.24年，平均6.08年。初诊视力（logMAR）为0.0～2.0，平均初诊视力为0.56（约为小数视力0.28）。初诊年龄〉35岁者中心视力已明显受损，并呈较快速度下降。OCT结果提示CHM患者中央视网膜厚度呈现先增厚后变薄的趋势，部分患者可见外层视网膜管样结构。患者残留视野与初诊年龄呈高度负相关（r＝－0.861，P〈0.001）。10例患者中5例因眼底病变程度重，无需行fERG检查，2例患者呈明视、暗视反应降低，另3例患者记录不到fERG反应。结论中国CHM患者可能病情更重、进展更快。外层视网膜管样结构是该病OCT重要表现。视野、fERG仅适用于评价早早期患者的病情。ObjectiveTo provide detailed clinical and molecular genetic findings and describe the characteristics of natural history in Chinese choroideremia （CHM） patients.MethodsThe patients with CHM who met the inclusion criteria of at least two visits over a minimum period of 5 years were recruited on a voluntary basis at the Ophthalmic Genetics Clinic in Peking Union Medical College Hospital from April 2009 to August 2017.Molecular genetic analysis results, best-corrected visual acuity （BCVA）, color fundus photograph, optical coherence tomography （OCT）, visual field （VF）, full-field electroretinography （fERG） were obtained.This study protocol was approved by the Institutional Review Board of Peking Union Medical College Hospital （S-K125）. Written informed consent was obtained from each participant.ResultsTen Chinese Han patients from seven CHM families were included.The mutations were confirmed by molecular genetic analysis, and two novel mutations were found.The median age of 10 patients at first visit was 44 years （range 8-52 years）. The mean first-last visit period was 6.08 years （range 5.03-7.24 years）. The mean BCVA at first visit in logMAR equivalents was 0.56 （range 0.0-2.0） or approximately 0.28 decimal acuity.The correlation between BCVA at first visit and age showed that relative good vision remained until 35 years old and BCVA subsequently reduced rapidly.OCT showed a thickening of the central retinal thickness at early stage, followed by a thinning over decades.Outer retinal tabulation （ORT） was shown in some patients.There was a strong negative correlation （r=-0.861, P〈0.001） between residual VF and age.Five patients did not need to record fERG because of serious fundus lesions.Two patients exhibited decreased amplitudes for both rod and cone-driven responses, and three patients exhibited no fERG amplitudes.ConclusionsThe progression of CHM may be severer and faster in Chinese patients than that in Western patients.ORT is an important manifestation of OCT in CHM

关 键 词：无脉络膜症 基因型 视力 光相干断层扫描 视野 视网膜电图 

分 类 号：R773.4[医药卫生—眼科]