Fuchs Corneal Dystrophy: Aberrant Collagen Distribution in an L450W Mutant of theCOL8A2Gene

Early-onset COL8A2 L450W disease involves massive accumulation and abnormal assembly of collagen VIII within Descemet's membrane, a process that is presumed to begin during fetal development. Both early- and late-onset subtypes of FCD appear to be the result of abnormal basement membrane assembly rather than a primary defect in endothelial metabolism.