Chapter 24 - Corneal endothelial dystrophy

Abstract

Like many ocular disorders, the recognition of corneal endothelial dystrophy as a distinct nosologic entity can be traced to Ernst Fuchs, who in 1910 described 13 patients with bilateral vision loss caused by a non-inflammatory clouding of the cornea. It was not obvious at first that the nidus of disease was the endothelial cell since epithelial bullae were mostly responsible for visual degradation. A century later, genetic investigations have implicated at least 15 loci on 9 chromosomes, a far more complex picture of inheritance and molecular dysfunction than anticipated. This chapter recounts the events that led to a modern understanding of Fuchs' corneal dystrophy as well as congenital hereditary endothelial dystrophy. The photograph gallery includes the histopathology of normal cornea, Fuchs' dystrophy with stromal and epithelial edema, secondary basement membrane changes, classic guttata and diffuse thickening of Descemet's membrane, and posterior polymorphous dystrophy.