Abstract: Congenital ectopic lens presents obvious genetic predisposition, so far, related genes include FBN1 and their family genes, ADAMTS family genes, CBS gene, LTBP2 gene, TGFBR2 gene, etc.. Related diseases involve Marfan syndrome, congenital contractural arachnodactyly (CCA) syndrome, Weill-Marchesani syndrome (WMS), homocystinuria (HCU), etc. The mutation of genes leads to abnormal assembly and degradation of microfibers in the suspensory ligament of the lens, resulting in ectopia of the lens, the study of pathogenesis and gene animal experiments are in the groping stage. (Int Rev Ophthalmol, 2022, 46: 28-33)

Key words: congenital ectopia lentis, gene