马方综合征患者眼前节生物学参数和FBN1基因型对眼后节病变的影响  

Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome

作　　者：刘燕 陈天慧 蒋永祥 Liu Yan;Chen Tianhui;Jiang Yongxiang(Department of Ophthalmology&Visual Science,Shanghai Medical College of Fudan University,Department of Ophthalmology,Eye&ENT Hospital of Fudan University,NHC Key Laboratory of Myopia and Related Eye Diseases,Key Laboratory of Myopia and Related Eye Diseases,Chinese Academy of Medical Sciences,Shanghai 200031,China)

机构地区：[1]复旦大学上海医学院眼科学与视觉科学系、复旦大学附属眼耳鼻喉科医院眼科、国家卫生健康委员会/中国医学科学院近视眼及相关眼病重点实验室,上海200031

出　　处：《中华眼科杂志》2024年第7期601-610,共10页Chinese Journal of Ophthalmology

摘　　要：目的探讨马方综合征(MFS)患者眼后节病变的特征及其与眼前节生物学参数及FBN1基因型的关系。方法横断面研究。收集2013年1月至2023年3月于复旦大学附属眼耳鼻喉科医院眼科就诊的MFS患者121例,其中男性76例,女性45例;年龄为(11.72±11.66)岁。采用B超观察是否存在后巩膜葡萄肿,根据超广角眼底像、彩色眼底像和相干光层析扫描结果观察是否存在黄斑病变并判断其类型。黄斑病变按照萎缩-牵引-新生血管分级系统进行分类。收集患眼眼前节生物学参数,包括眼轴长度、角膜平均曲率、角膜散光度数、角膜水平径、前房深度及晶状体厚度,并观察晶状体脱位的方向和范围。采用基于面板的全眼科遗传病基因组进行下一代测序对患者的FBN1基因突变进行了分子遗传学分析,并分析基因型和眼前节生物学参数对眼后节表现的影响。结果共有60例患者出现眼后节病变,包括视网膜脱离(4例,3.31%),黄斑病变(47例,38.84%)和后巩膜葡萄肿(54例,44.63%)。是否合并后巩膜葡萄肿[23.09(22.24,24.43)和27.04(25.44,28.88)mm],以及是否合并黄斑病变[23.16(22.24,24.61)和27.04(25.74,28.78)mm]的患者间,眼轴长度的差异均有统计学意义(均P<0.001);是否合并萎缩性黄斑病变的患者,眼轴长度差异亦有统计学意义[23.16(22.24,24.61)和27.04(25.74,28.79)mm,P<0.001]。是否合并黄斑病变的患者中,前房深度[3.11(2.75,3.30)和3.34(3.09,3.60)mm]的差异有统计学意义(P<0.05);是否合并后巩膜葡萄肿的患者中,角膜散光度数[2.15(1.20,2.93)和1.40(1.00,2.20)D]的差异有统计学意义(P<0.05)。FBN1基因突变的位置和区域与后巩膜葡萄肿及黄斑病变的阳性率之间的差异有统计学意义(均P<0.05)。FBN1突变的位置和区域会影响萎缩性黄斑病变的发生(均P<0.05)。FBN1突变位于转化生长因子β调节序列的患者后巩膜葡萄肿和黄斑病变的占比最高,均为10/11。结论MFS患者后�Objective To investigate the characteristics of posterior segment lesions in Marfan syndrome(MFS)patients and their relationship with anterior segment biometric parameters and FBN1 genotype.Methods A cross-sectional study was conducted.A total of 121 MFS patients,76 males and 45 females,with an average age of(11.72±11.66)years,who visited the Department of Ophthalmology,Eye&ENT Hospital of Fudan University from January 2013 to March 2023 were included.The presence of posterior scleral staphyloma was observed using B-mode ultrasound,and macular lesions were identified and classified using the atrophy-traction-neovascularization system based on ultra-widefield fundus images,color fundus images,and optical coherence tomography scans.Anterior segment biometric parameters,including axial length of the eye,average corneal curvature,corneal astigmatism,horizontal corneal diameter,anterior chamber depth,and lens thickness,were collected,and the direction and extent of lens dislocation were observed.Molecular genetic analysis of FBN1 gene mutations in patients was performed using next-generation sequencing based on a panel of ocular genetic diseases,and the impact of the genotype and anterior segment biometric parameters on the posterior segment manifestations was analyzed.Results Sixty patients exhibited posterior segment lesions,including retinal detachment(4 cases,3.31%),macular lesions(47 cases,38.84%),and posterior scleral staphyloma(54 cases,44.63%).There was statistically significant difference in axial length of the eye between patients with and without posterior scleral staphyloma[23.09(22.24,24.43)and 27.04(25.44,28.88)mm],between patients with and without macular lesions[23.16(22.24,24.61)and 27.04(25.74,28.78)mm],and between patients with and without atrophic macular lesions[23.16(22.24,24.61)and 27.04(25.74,28.79)mm](all P<0.001).There was statistically significant difference in anterior chamber depth between patients with and without macular lesions[3.11(2.75,3.30)and 3.34(3.09,3.60)mm](P<0.05).There was al

关 键 词：马凡综合征 眼后段 眼前半段 巩膜疾病 黄斑变性 新生血管化 病理性 轴长度 眼 遗传关联研究 

分 类 号：R596[医药卫生—内科学] R771.3[医药卫生—临床医学]