眼科学报2026，Vol.41Issue(8)：698-708,11.DOI:10.12419/25040101
FBN1基因突变的家族性晶状体脱位:病例系列报告及文献回顾
Familial ectopia lentis associated with FBN1 gene mutations:a case series and literature review
摘要
Abstract
Objective:To characterize the clinical and genetic features of a family with ectopia lentis(EL),identify the associated with FBN1 mutation,and evaluate the diagnosis according to the 2010 revised Ghent criteria.Methods:Clinical and genetic data were collected from a family with congenital EL.Three affected individuals(2 children,1 adult)underwent comprehensive ophthalmic examinations,including visual acuity,axial length measurement,and ultrasound biomicroscopy.Systemic assessments included echocardiography and skeletal examination.Genetic analysis was performed using targeted next-generation sequencing covering FBN1 and other pathogenic genes.All patients underwent pars,plana vitrectomy with intraocular lens suspension(IOL)suspension and were followed for one year postoperatively.Results:All three patients harbored a heterozygous FBN1 c.4588C>T mutation,resulting in a p.Arg1530Cys substitution.The adult patient(Ⅱ-1)presented with an aortic root aneurysm(diameter 47 mm,Z>2).In contrast,the two pediatric patients(Ⅲ-1,Ⅲ-2)exhibited only nasal lens subluxation,with no detectable cardiovascular or skeletal abnormalities.The proband(Ⅲ-2)also carried a CACNA1F c.3854G>A variant.Electrophysiological testing in this patient revealed retinal dysfunction,characterized by delayed visual evoked potential(VEP)latency and reduced electroretinogram(ERG),although no clinical retinopathy was evident.All patients showed marked postoperative visual recovery.In Ⅲ-1,visual acuity improved from 0.2/0.3 to 0.7/0.3;in Ⅲ-2,it improved from 0.3/0.4 to 0.9/1.0.No IOL dislocation or retinal complications occurred during one-year follow-up.Conclusions:The FBN1 c.4588C>T mutation is the primary pathogenic variant for EL in this family.Located in the C-terminal region of fibrillin-1,this mutation demonstrates age-dependent variable expressivity.Given the potential for delayed systemic manifestations,pediatric carriers require long-term monitoring for Marfan syndrome(MFS).Furthermore,in patients with co-occurring CACNA1F variants,subclinical retinal electrophysiological abnormalities should be considered when evaluating visual prognosis.关键词
晶状体脱位/FBN1 基因/马方综合征/表型异质性/Ghent 诊断标准Key words
ectopia lentis/FBN1gene/Marfan syndrome/phenotypic heterogeneity/revised Ghent criteria分类
医药卫生引用本文复制引用
热依拉·艾尼瓦尔,申涛,蒋晨,魏碧霞,阿地来·艾克拜尔,丁琳..FBN1基因突变的家族性晶状体脱位:病例系列报告及文献回顾[J].眼科学报,2026,41(8):698-708,11.基金项目
"天山英才"医药卫生领军人才(TSYC202401A030).This work was supported by"Tianshan Yingcai"Leading Talent in Medicine and Health(TSYC202401A030). （TSYC202401A030）
