PURPOSE To identify the molecular defects in the fibrillin-1 gene (FBN1) in two Chinese families with ectopia lentis (EL) and marfanoid habitus. METHODS Five patients and eight non-carriers in the two families underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the families as well as 100 h...

Background: Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant ph...

PURPOSE The tunica vasculosa lentis (TVL) is a transient vascular network surrounding the developing lens that regresses prenatally in humans and postnatally in rodents. Macrophage-like cells, sometimes referred to as hyalocytes, have been postulated to play a role in the regression of this vascular system; however, the precise identity of these cells is still unclear. The aim of the present in...

This report provides transmission electron microscopic observations on the early pathogenesis of persistent hyperplastic tunica vasculosa lentis/persistent hyperplastic primary vitreous (PHTVL/PHPV) in affected canine fetuses at days 28-44 postcoitum. The retrolental tissue by which this anomaly is characterized consists of loosely arranged fibroblasts in a randomly oriented meshwork of collage...