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 iso

SUBMITTER: Liu X 

PROVIDER: S-EPMC10178797 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature