Ocular, cardiovascular, and genetic characteristics and their associations in children with Marfan syndrome and related fibrillinopathies.

Purpose: Congenital ectopia lentis (CEL) and heart abnormalities are common clinical symptoms in patients with Marfan syndrome (MFS) and related fibrillinopathies, which is caused by mutations in fibrillin-1 (FBN1) gene. This study aims to explore the ocular and cardiovascular characteristics and their association with genotype in children with MFS and related fibrillinopathies.

Methods: Seventy-nine children diagnosed with CEL and with FBN1 mutations confirmed via whole-exome sequencing were included for genotypes and phenotypes analysis.

CHARACTERISTICS OF THE FOVEAL MICROVASCULATURE IN CHILDREN WITH MARFAN SYNDROME: An Optical Coherence Tomography Angiography Study.

Purpose: To investigate the characteristics of foveal microvasculature in children with Marfan syndrome (MFS).

Methods: Ninety eyes from 45 MFS patients and 76 eyes from 38 healthy individuals of age-matched, sex-matched, and axial length-matched were enrolled. Characteristics of the superficial capillary plexus including the vessel density, perfusion density, and foveal avascular zone were analyzed by optical coherence tomography angiography.