Liu Yan, Ju Yuqiao, Chen Tian-Hui, Jiang Yong-Xiang
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
NHC Key Laboratory of Myopia, Fudan University, Shanghai, China.
Ophthalmol Sci. 2024 Apr 6;4(5):100526. doi: 10.1016/j.xops.2024.100526. eCollection 2024 Sep-Oct.
Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the ( (). 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 genotype and posterior segment abnormalities within a Chinese cohort of MFS.
Retrospective study.
One hundred twenty-one eyes of 121 patients with confirmed mutations between January 2015 and May 2023 were included.
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.
Clinical features and risk factors.
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 ( = 0.013, = 0.033) and PS ( = 0.043, = 0.036). Mutations in the middle region had a lower incidence of maculopathy and PS ( = 0.028 and = 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 ( = 0.020, = 0.040). Importantly, the location and region of mutations were also associated with the incidence of atrophic maculopathy ( = 0.013 and = 0.033, respectively). Mutations in the middle region had a significantly lower probability of atrophic maculopathy ( = 0.006), while mutations in the TGF-β regulating region had a higher incidence of atrophic maculopathy ( = 0.020).
Maculopathy and PS were associated with the location and region of mutations. Patients with mutations in the TGF-β regulating region faced an increased risk of developing retinopathy.
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
马凡综合征（MFS）是一种由（）基因突变引起的结缔组织疾病。除了晶状体异位（EL）和主动脉扩张等典型表型外，MFS患者还容易出现眼后段异常，包括视网膜脱离（RD）、黄斑病变和后巩膜葡萄肿（PS）。本研究旨在调查中国MFS队列中基因型与眼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例确诊为（）基因突变患者的121只眼睛。
回顾全面的眼科检查结果，分析不同基因型组之间RD、萎缩性、牵拉性和新生血管性黄斑病变（ATN分类系统）以及PS的发生率。仅纳入每位患者受影响更严重的眼睛。
临床特征和危险因素。
121例患者中，60只眼睛（49.59%）出现眼后段异常，包括RD（4只，3.31%）、黄斑病变（47只，38.84%）和PS（54只，44.63%）。平均年龄为11.53±11.66岁，79.34%的患者年龄<20岁。发现突变的位置和区域与黄斑病变（=0.013，=0.033）和PS（=0.043，=0.036）的发生率相关。中间区域的突变比C末端区域的突变黄斑病变和PS的发生率更低（分别为=0.028和=0.006）。转化生长因子-β（TGF-β）调节序列中的突变黄斑病变和PS的发生率更高（=0.020，=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=0.013和=0.033）。中间区域的突变萎缩性黄斑病变的概率显著更低（=0.006），而TGF-β调节区域的突变萎缩性黄斑病变的发生率更高（=0.020）。
黄斑病变和PS与（）基因突变的位置和区域相关。TGF-β调节区域发生突变的患者发生视网膜病变的风险增加。
在本文末尾的脚注和披露中可能会发现专有或商业披露信息。
