Overarching Concepts and Mechanisms Affecting Phenotypes of Ocular Genetic Conditions

Abstract

This article describes recent advances in the understanding of cellular and molecular mechanisms that underlie genetic eye diseases. Discoveries at the molecular level, including autophagy and nonsense suppression, improve understanding of overall eye development and open avenues for therapies designed to modify molecular expression, resulting in a different phenotype. Continued research of ciliopathies demonstrates the wide and variable expression of these disorders. This translates into the clinical setting when seemingly nonsyndromic eye disorders may be multisystemic due to ciliary dysfunction, requiring targeted diagnostics to detect subtle or early-stage disease outside of the eye. Ocular genetics is rapidly expanding to a point where an ophthalmologist’s understanding of the molecular and cellular basis of disease can impact and influence the diagnostic and therapeutic options available to patients. Further research of the outlined processes, among others, may lead to clinically relevant and widely applicable therapies for genetic eye diseases in the near future.