Clinical and genetic findings in Chinese families with congenital ectopia lentis

Abstract

Background: Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a syndrome, such as the Marfan syndrome. The fibrillin-1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome. Owing to the complexity and individual heterogeneity of FBN1 gene mutations, the correlation between FBN1 mutation characteristics and various clinical phenotypes remains unclear.Methods: This study describes the clinical characteristics and identifies possible causative genes in eight families with Marfan syndrome or isolated EL using Sanger and whole-exome sequencing.Results: Eight FBN1 mutations were identified in these families, of which three (c.5065G > C, c.1600 T > A, and c.2210G > C) are reported for the first time. Based on in silico analyses, we hypothesized that these mutations may be pathogenic by affecting the fibrillin-1 protein structure and function. Conclusion:These findings expand the number of known mutations involved in EL and provide a reference for the research on their genotype and phenotype associations.

Transscleral suture fixation in congenital ectopia lentis

“…The condition is usually inherited and can be associated with other ocular and systemic anomalies. The precise cause of CEL is not yet known, but various theories suggest a genetic or developmental origin ( 2 , 3 ).…”

“…Liu et al reports on the results of a clinical study in which the modified knotless transscleral intraocular lens fixation technique was used to treat CEL in 30 eyes ( 3 ). The authors report that the technique was effective in correcting the lens displacement and improving visual function by achieving optimal intraocular lens (IOL) position and reducing postoperative astigmatism.…”