PDF(Pubmed)
Abstract：
UNASSIGNED: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 ( (FBN1). In addition to typical phenotypes such as ectopia lentis (EL) and aortic dilation, patients with MFS are prone to ocular posterior segment abnormalities, including retinal detachment (RD), maculopathy, and posterior staphyloma (PS). This study aims to investigate the correlations between FBN1 genotype and posterior segment abnormalities within a Chinese cohort of MFS.
UNASSIGNED: Retrospective study.
UNASSIGNED: One hundred twenty-one eyes of 121 patients with confirmed FBN1 mutations between January 2015 and May 2023 were included.
UNASSIGNED: Comprehensive ophthalmic examination findings were reviewed, and the incidence of RD, atrophic, tractional, and neovascular maculopathy (ATN classification system), and PS was analyzed between different genotype groups. Only the more severely affected eye from each patient was included.
UNASSIGNED: Clinical features and risk factors.
UNASSIGNED: Of 121 patients, 60 eyes (49.59%) exhibited posterior segment abnormalities, including RD (4, 3.31%), maculopathy (47, 38.84%), and PS (54, 44.63%). The mean age was 11.53 ± 11.66 years, with 79.34% of patients <20 years old. The location and region of mutations were found to be associated with the incidence of maculopathy (P = 0.013, P = 0.033) and PS (P = 0.043, P = 0.036). Mutations in the middle region had a lower incidence of maculopathy and PS (P = 0.028 and P = 0.006, respectively) than those in C-terminal region. Mutations in the transforming growth factor-β (TGF-β) regulating sequence exhibited a higher incidence of maculopathy and PS (P = 0.020, P = 0.040). Importantly, the location and region of mutations were also associated with the incidence of atrophic maculopathy (P = 0.013 and P = 0.033, respectively). Mutations in the middle region had a significantly lower probability of atrophic maculopathy (P = 0.006), while mutations in the TGF-β regulating region had a higher incidence of atrophic maculopathy (P = 0.020).
UNASSIGNED: Maculopathy and PS were associated with the location and region of FBN1 mutations. Patients with mutations in the TGF-β regulating region faced an increased risk of developing retinopathy.
UNASSIGNED: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
UNASSIGNED: Retrospective study.
UNASSIGNED: One hundred twenty-one eyes of 121 patients with confirmed FBN1 mutations between January 2015 and May 2023 were included.
UNASSIGNED: Comprehensive ophthalmic examination findings were reviewed, and the incidence of RD, atrophic, tractional, and neovascular maculopathy (ATN classification system), and PS was analyzed between different genotype groups. Only the more severely affected eye from each patient was included.
UNASSIGNED: Clinical features and risk factors.
UNASSIGNED: Of 121 patients, 60 eyes (49.59%) exhibited posterior segment abnormalities, including RD (4, 3.31%), maculopathy (47, 38.84%), and PS (54, 44.63%). The mean age was 11.53 ± 11.66 years, with 79.34% of patients <20 years old. The location and region of mutations were found to be associated with the incidence of maculopathy (P = 0.013, P = 0.033) and PS (P = 0.043, P = 0.036). Mutations in the middle region had a lower incidence of maculopathy and PS (P = 0.028 and P = 0.006, respectively) than those in C-terminal region. Mutations in the transforming growth factor-β (TGF-β) regulating sequence exhibited a higher incidence of maculopathy and PS (P = 0.020, P = 0.040). Importantly, the location and region of mutations were also associated with the incidence of atrophic maculopathy (P = 0.013 and P = 0.033, respectively). Mutations in the middle region had a significantly lower probability of atrophic maculopathy (P = 0.006), while mutations in the TGF-β regulating region had a higher incidence of atrophic maculopathy (P = 0.020).
UNASSIGNED: Maculopathy and PS were associated with the location and region of FBN1 mutations. Patients with mutations in the TGF-β regulating region faced an increased risk of developing retinopathy.
UNASSIGNED: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
摘要：
■马凡氏综合征（MFS）是一种由原纤维蛋白-1（（FBN1））突变引起的结缔组织疾病。除了典型的表型，如外翻（EL）和主动脉扩张，MFS患者容易出现眼后段异常，包括视网膜脱离（RD），黄斑病变,和后部葡萄肿（PS）。本研究旨在调查中国MFS队列中FBN1基因型与后段异常之间的相关性。
■回顾性研究。
■纳入了2015年1月至2023年5月期间121例确诊FBN1突变患者的121只眼睛。
■综述了全面的眼科检查结果，和RD的发生率，萎缩性,牵引,和新生血管性黄斑病变（ATN分类系统），并在不同基因型组间进行PS分析。仅包括每位患者受影响更严重的眼睛。
■临床特征和危险因素。
■121名患者中,60眼（49.59%）表现为后段异常，包括RD（4，3.31%），黄斑病变（47，38.84%），和PS（54，44.63%）。平均年龄11.53±11.66岁,79.34%的患者<20岁。发现突变的位置和区域与黄斑病变（P=0.013，P=0.033）和PS（P=0.043，P=0.036）的发生率有关。与C末端区域相比，中间区域的突变具有较低的黄斑病变和PS的发生率（分别为P=0.028和P=0.006）。转化生长因子-β（TGF-β）调节序列的突变显示黄斑病变和PS的发生率较高（P=0.020，P=0.040）。重要的是,突变的位置和区域也与萎缩性黄斑病变的发生率相关(分别为P=0.013和P=0.033).中间区域的突变具有显著较低的萎缩性黄斑病变的概率(P=0.006),而TGF-β调节区突变的萎缩性黄斑病变发生率较高(P=0.020).
■黄斑病变和PS与FBN1突变的位置和区域相关。TGF-β调节区突变的患者面临发生视网膜病变的风险增加。
■专有或商业披露可在本文末尾的脚注和披露中找到。
■回顾性研究。
■纳入了2015年1月至2023年5月期间121例确诊FBN1突变患者的121只眼睛。
■综述了全面的眼科检查结果，和RD的发生率，萎缩性,牵引,和新生血管性黄斑病变（ATN分类系统），并在不同基因型组间进行PS分析。仅包括每位患者受影响更严重的眼睛。
■临床特征和危险因素。
■121名患者中,60眼（49.59%）表现为后段异常，包括RD（4，3.31%），黄斑病变（47，38.84%），和PS（54，44.63%）。平均年龄11.53±11.66岁,79.34%的患者<20岁。发现突变的位置和区域与黄斑病变（P=0.013，P=0.033）和PS（P=0.043，P=0.036）的发生率有关。与C末端区域相比，中间区域的突变具有较低的黄斑病变和PS的发生率（分别为P=0.028和P=0.006）。转化生长因子-β（TGF-β）调节序列的突变显示黄斑病变和PS的发生率较高（P=0.020，P=0.040）。重要的是,突变的位置和区域也与萎缩性黄斑病变的发生率相关(分别为P=0.013和P=0.033).中间区域的突变具有显著较低的萎缩性黄斑病变的概率(P=0.006),而TGF-β调节区突变的萎缩性黄斑病变发生率较高(P=0.020).
■黄斑病变和PS与FBN1突变的位置和区域相关。TGF-β调节区突变的患者面临发生视网膜病变的风险增加。
■专有或商业披露可在本文末尾的脚注和披露中找到。
