The impact of genetics on the clinical management of patients with monogenic corneal diseases

Abstract

SummaryOver the last decade there has been a major reassessment of the classification of inherited corneal disease. In this presentation I discuss our program to genotype all patients attending our tertiary referral center who have suspected monogenic corneal disease. This has enabled us to distinguish the phenotypes of several closely related dystrophies as well as identify a small number of patients who have previously been misclassified. Some patients with important systemic associations have been identified and referred for further investigation and management. Finally, patients without changes in the genes commonly associated with corneal dystrophy have been selected for further evaluation. The impact of this for clinical care will be discussed.