摘要
目的系统评价Sorsby眼底营养不良(SFD)的临床表现、治疗和相关致病基因。方法循证医学研究。以Sorsby眼底营养不良、抗血管内皮生长因子治疗、脉络膜新生血管、黄斑新生血管、TIMP3基因为检索词,在中国知网、万方、美国国立医学图书馆PubMed和荷兰医学文摘Embase数据库检索相关文献。检索时间为建库至2022年4月。由两位评价员独立筛选文献、提取资料。排除重复、信息不完整或不相关文献以及综述性文献。采用SPSS26.0软件对文献进行分析,95%可信区间(CI)作为效应量的估计值。统计并记录SFD的临床表现、治疗和相关致病基因。结果根据检索策略初步检索出157篇文献,最终纳入16篇文献的35例患者49只眼进行分析。其中,男性17例,女13例,性别不明5例;左眼、右眼分别为16、19只眼,眼别不明14只眼。患者发病年龄(42.33±2.19)(28~59)岁。家族史阳性19例,总阳性率54.3%(19/35,95%CI 36%~72%)。基因变异31例,均为TIMP3基因变异;纳入文献中检测未发现变异、变异未报道位点分别为2、2例,总阳性率93.9%(31/33,95%CI 85%~100%)。基因变异的31例中,英国、德国、瑞士、中国人种分别为22、4、1、4例,检出率均为100%(22/22、4/4、1/1、4/4)。SFD的临床表现主要为眼底黄白色沉积物及黄斑区脉络膜新生血管(CNV),导致患者中心视力下降;随后沉积物向周边扩展、CNV进一步发展及周边视网膜脉络膜萎缩,导致患者视力严重下降。SFD的治疗方式有光动力疗法以及抗血管内皮生长因子药物、糖皮质激素、维生素A等药物治疗,其中抗血管内皮生长因子药物为一线治疗方案,而联合治疗比单一治疗的预后疗效更好。结论TIMP3基因变异导致了SFD;其眼底特征性表现为黄白色沉积物及CNV,由中心向周边发展,导致患者视力进行性下降;抗血管内皮生长因子药物治疗为一线方案,联合治疗比单一治疗的预后疗效更好。
Objective:To conduct a systematic review of clinical manifestations,treatment,and associated genotyping of Sorsby fundus dystrophy(SFD).Methods:An evidence-based medicine study.Sorsby fundus dystrophy,anti-vascular endothelial growth factor therapy,choroidal neovascularization,macular neovascularization,and TIMP3 gene were hereby used as search terms.Relevant literature was searched in CNKI,Wanfang,PubMed of the National Library of Medicine,and Embase of the Netherlands.The time span for literature searching ranged from the establishment of the database to April 2022,and two reviewers independently screened the literature and extracted relevant data,with duplicates,incomplete or irrelevant articles,and review articles excluded.SPSS26.0 software was used for analysis.The 95%confidence interval(CI)was used as an estimate of the effect size.The clinical manifestations,treatment and related pathogenic genes of SFD were counted and recorded.Results:According to the search strategy,157 pieces of literature were initially retrieved,and 49 eyes of 35 patients from 16 articles were finally included for analysis,among which,17 patients were male,13 patients were female,and 5 patients were unknown gender;16 involved left eyes,19 involved right eyes,and 14 involved unidentified eyes.The age of the disease onset was 42.33±2.19 years(28-59)years old.There were 19 cases with a positive family history,and the total positive rate was 54.3%(19/35,95%CI 36%-72%).There were 31 cases of gene mutation,all of which were TIMP3.In the included literature,there were 2 and 2 cases with no mutation and unreported loci,respectively,with a total positive rate of 93.9%(31/33,95%CI 85%-100%).Among the 31 cases with gene mutation,22,4,1,and 4 cases were in the UK,Germany,Switzerland,and Chinese,respectively,and the detection rates were all 100%(22/22,4/4,1/1,4/4).The clinical manifestations of SFD were mainly yellow-white deposits in the fundus and choroidal neovascularization(CNV)in the macula,thereby leading to a decrease in central vision,fo
作者
古秋梅
陈正举
肖林
杨智博
刘陇黔
Gu Qiumei;Chen Zhengju;Xiao Lin;Yang Zhibo;Liu Longqian(Department of Optometry&Visual Science,West China Hospital of Sichuan University,Chengdu 610041,China;Huaxi MR Research Center,Department of Radiology,West China Hospital,Sichuan University,Chengdu 610041,China;Department of pathology Institute of Clinical Pathology,West China Hospital,Sichuan University,Chengdu 610000,China;Department of Evidence Based Nursing Center,West China Hospital of Sichuan University,Chengdu 610041,China)
出处
《中华眼底病杂志》
CAS
CSCD
北大核心
2022年第11期925-930,共6页
Chinese Journal of Ocular Fundus Diseases
基金
四川省科技厅重点研发项目(2021YFS0211)。
