A rare, familial early-onset form of Fuchs corneal dystrophy (FCD) is caused by mutation in the COL8A2 gene. This study describes the aberrant pattern of distribution of collagen type VIII and basement membrane components in Descemet's membrane (DM) and endothelium of three individuals with the same L450W mutation that represent different stages of early-onset FCD.
Center for Corneal Genetics, Cornea and External Disease Service, Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
