两例颗粒角膜营养不良患者临床特征及基因突变分析  

Analysis of Clinical Manifestations and Gene Mutations in Two Patients with Granular Corneal Dystrophy

作　　者：李瑾 旷龙昊 王婷[2] 黄滔 闫晓河[2] LI Jin;KUANG Long-hao;WANG Ting;HUANG Tao;YAN Xiao-he(The Second Clinical Medical College,Jinan University,Shenzhen 518000,Guangdong Province,China;Department of Fundus Diseases,Jinan University Shenzhen Eye Hospital Affiliated to Jinan University,Shenzhen 518040,Guangdong Province,China)

机构地区：[1]暨南大学第二临床医学院,广东深圳518000 [2]暨南大学附属深圳眼科医院眼底病科,广东深圳518040

出　　处：《罕少疾病杂志》2022年第3期19-20,25,共3页Journal of Rare and Uncommon Diseases

基　　金：教育部留学回国人员科研启动基金[教外同留(2015)1098号];深圳市医疗卫生三名工程项目(SZSM202011015)。

摘　　要：目的分析两例颗粒状角膜营养不良(GCD)中年女性患者的临床特征及利用高通量测序结合PCR测序鉴定其基因突变位点。方法结合两名患者典型临床表现及眼前段照相结果对临床特征进行分析,并对其外周血进行目标序列捕获高通量测序技术结合PCR测序鉴定基因突变位点。结果两名患者临床表现为反复发生的角膜刺激症状伴视力下降,眼前段照相显示角膜基质层颗粒状或雪花状混浊,患者外周血基因测序发现TGFBI基因上分别存在c.1663C>T:p.R555W及c.371G>A:p.R124杂合位点突变。结论两名颗粒状角膜营养不良患者均表现为角膜刺激症状,该疾病分别由TGFBI基因的c.1663C>T:p.R555W及c.371G>A:p.R124位点杂合突变导致,基因检测分别诊断为GCD1型及GCD2型。Objective To analyze the clinical manifestations and its genetic mutations in two Chinese female patients with Granular Corneal Dystrophy(GCD)by target sequence capture sequencing and PCR sequencing.Methods Clinical data and anterior segment photographs of both patients were collected,DNA was isolated from peripheral blood and chip capture high-throughput sequencing and PCR were used for mutation identification.Results The clinical manifestations of both patients were recurrent corneal irritation and decreased vision.The anterior segment photography showed granular or snowflake opacity in the corneal stromal layer.A heterozygous TGFBI gene mutation(c.1663C>T:p.R555W or c.371G>A:p.R124)was found in each patient,respectively.Conclusion Bothpatients with granular corneal dystrophy showed symptoms of corneal irritation.We found a heterozygous mutation at c.1663C>T:p.R555W or c.371G>A:p.R124 in TGFBI gene in each patient,respectively.GCD type 1 and GCD type 2 are diagnosed through genetic diagnosis.

关 键 词：颗粒状角膜营养不良 基因突变 TGFBI基因 

分 类 号：R772.23[医药卫生—眼科]