Corneal dystrophies are a heterogeneous group of inherited disorders characterized by progressive abnormalities of the corneal epithelium, stroma, or endothelium that may result in recurrent erosions, corneal opacity, impaired vision, or corneal edema. Disease severity and age of onset vary depending on the affected corneal layer and underlying genetic cause.

This panel includes genes associated with the major inherited corneal dystrophies, including epithelial, stromal, endothelial, and posterior corneal dystrophies, such as TGFBI-associated corneal dystrophies, macular corneal dystrophy, Fuchs endothelial corneal dystrophy, congenital hereditary endothelial dystrophy, posterior polymorphous corneal dystrophy, and Schnyder corneal dystrophy. Representative genes include TGFBI, CHST6, COL8A2, SLC4A11, KRT3, KRT12, ZEB1, VSX1, and UBIAD1.

This panel is recommended for patients whose primary clinical abnormality involves the cornea, including inherited corneal opacities, endothelial dysfunction, recurrent corneal erosions, stromal deposits, or progressive corneal clouding.