Corneal Dystrophies Panel

The Corneal Dystrophies Panel analyzes genes that are associated with corneal dystrophies (CDs), which are characterized by cloudy or blurred vision, light sensitivity, dry or itchy eyes, the sensation of something in the eye, and/or mild to severe pain in the eye. These genes were selected based on the available evidence to date to provide a broad analysis for inherited corneal dystrophies. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.