先天性上斜肌麻痹基因多态性与临床表型的关系  

Relationship between genetic polymorphisms of congenital superior oblique palsy and clinical phenotypes

作　　者：刘海华[1] 叶锦棠[2] 李瑞英 朱月清[1] Liu Hai-hua;Ye Jin-tang;Li Rui-ying(Department of Pediatric Ophthalmology,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院小儿眼科,100034 [2]北京大学第一医院医学影像科

出　　处：《中国斜视与小儿眼科杂志》2021年第4期1-5,I0014,共6页Chinese Journal of Strabismus & Pediatric Ophthalmology

基　　金：北京大学第一医院科研基金(2015GG004)。

摘　　要：目的探讨先天性上斜肌麻痹基因多态性与临床表型的关系。方法横断面研究。对先天性上斜肌麻痹(CSOP) 14例(18眼)和10例正常儿童进行可能的候选基因PHOX2A和PHOX2B的检测了解有无突变,头部MRI检查观察滑车神经和上斜肌(SO)的形态、测量SO最大横截面积。统计分析基因突变的发生率及与SO形态等临床表型的关系。结果 14例CSOP病例中3例(21.43%)有PHOX2B外显子A-C的突变,10例正常组无候选基因突变,两组候选基因突变率无统计学差异(P=0.23)。CSOP组3例(23.08%)滑车神经显影,正常组4例(40.00%)滑车神经显影,显影率无统计差异(P=0.67)。CSOP病例中麻痹眼SO最大横截面积10.97mm^(2)±3.77mm^(2),非麻痹眼为14.43mm^(2)±1.68mm^(2),二者有统计学差异(P=0.00)。正常组SO最大横截面积17.22mm^(2)±1.07mm^(2),与CSOP病例非麻痹眼有统计差异(P=0.00)。3例有候选基因突变的CSOP病例,垂直斜角25.0^(△)±5.0^(△),上斜肌功能不足(SOUA)中位数-3,下斜肌功能亢进(IOOA)中位数+3,代偿头位21.0°±1.0°,眼底外旋17.0°±1.0°,麻痹眼SO横截面积9.23mm^(2)±3.73mm^(2)。11例无基因突变的CSOP病例,垂直斜角13.2^(△)±4.2^(△),SOUA中位数-1,IOOA中位数+2.5,代偿头位13.73°±2.83°,眼底外旋13.72°±2.28°,麻痹眼SO横截面积11.65mm^(2)±2.72mm^(2)。两组斜视度、SOUA、代偿头位和麻痹眼SO横截面积比较有统计学差异(P<0.05)。结论本组CSOP病例21.43%有PHOX2B外显子A-C的突变,正常组无此突变。本组CSOP中PHOX2B突变与垂直斜视、SOUA、代偿头位和SO横截面积的临床表型相关。Objective To explore the relationship between genetic polymorphisms of congenital superior oblique palsy(CSOP) and clinical phenotypes.Methods Cross-sectional study.14 cases(18 eyes) of CSOP and 10 normal children were tested for possible candidate genes PHOX2 A and PHOX2 B to find whether there are mutations,and MRI was used to observe the morphology of the trochlear nerve and superior oblique muscle(SO).Measure the maximum crosssectional area of SO.Statistical analysis of the incidence of gene mutations and the relationship with clinical phenotypes such as SO morphology.Results Among the 14 CSOP cases,3 cases(21.43%) had PHOX2 B exon A-C mutations,and10 normal groups had no candidate gene mutations.There was no statistical difference in genes mutation between two groups(P=0.23).The trochlear nerve was observed in 3 patients(23.08%) in CSOP group and 4 participants(40.00%) in normal group.There was no statistical difference(P=0.67).In CSOP cases,the maximum cross-sectional area of SO of the paralyzed eye was 10.97 mm^(2)±3.77 mm^(2),and that of non-paralyzed eye was 14.43 mm^(2)±1.68 mm^(2),P=0.00.The maximum cross-sectional area of SO in normal group was 17.22 mm^(2)±1.07 mm^(2),which was statistically different from that of non-paralyzed eyes in CSOP cases(P=0.00).Three cases of CSOP with candidate gene mutations,the vertical squint angle was 25.0^(△)±5.0^(△),median of superior oblique underaction(SOUA)-3,median inferior oblique overaction(IOOA)+3,head tilt angle 21.0°±1.0°,fundus external rotation 17.0°±1.0°,the cross-sectional area of SO in the paralyzed eyes is 9.23 mm^(2)±3.73 mm^(2).11 cases of CSOP without gene mutation,vertical squint angle 13.2^(△)±4.2^(△),median SOUA-1,median IOOA+2.5,head tilt angle 13.73°±2.83°,external rotation of the fundus13.72°±2.28°,the cross-sectional area of SO in the paralyzed eyes is 11.65 mm^(2)±2.72 mm^(2).There were statistical differences in squint angle,SOUA,head tilt angle and SO cross-sectional area of paralyzed eyes between the two groups(

关 键 词：先天性 滑车神经 上斜肌麻痹 基因多态性 磁共振成像 

分 类 号：R777.41[医药卫生—眼科]