Congenital ectopialentis(CEL)is a significant cause of blindness-related disease in children and adolescents, with a highly heterogeneous etiology. It can manifest either as a prominent ocular phenotype of connective tissue disorders such as Marfan syndrome or as an isolated condition. Emerging evidence indicates that zonular microfibrils and extracellular matrix homeostasis represent the core pathological basis. Variants in genes including FBN1, ADAMTSL4, LTBP2, ADAMTS10/17, ASPH, and SUOX lead to lens malposition and anterior segment remodeling by disrupting microfibril assembly, anchoring, and signaling regulation. Clinically, after excluding secondary causes, a stratified diagnosis based on phenotypic presentation should be pursued. Genetic testing can adopt a stepwise strategy of “panel-first, supplemented by whole-exome/whole-genome sequencing(WES/WGS)”, combined with family-based follow-up and reassessment. This review synthesizes current knowledge on the pathogenic basis, genetic spectrum and genotype-phenotype correlations, diagnostic workflows, and testing strategies, and presents a clinically oriented stratified diagnostic framework aimed at improving early recognition and systemic risk management.

陕西省重点项目关键核心技术攻关(No.2024SF2-GJHX-39); 空军军医大学临床研究项目(No.2024LC2414)