Genetics in Corneal Diseases

Abstract

Corneal dystrophies are hereditary disorders that are generally bilateral, involving the formation of opacities in one or more layers of the cornea. The opacities cause blurring of vision, and when this occurs to a significant extent, a corneal graft to replace the cornea, or involving replacement of one or more layers of the cornea, is required to restore vision. An essential part of the traditional definition of corneal dystrophy includes the absence of systemic or environmental factors in the etiology of these diseases. The most common method of classification of corneal dystrophies is an anatomical one, based on the layer(s) of the cornea that are affected; thus, corneal dystrophies are grouped as epithelial and subepithelial, Bowman layer, stromal, Descemet membrane, and endothelial dystrophies. However, a critical evaluation of the literature in the field by a committee of experts has brought out many limitations in this system. These are as given below.