Introduction: Ocular inflammatory diseases comprise uveitis, scleritis, and inflammation of adjacent structures of the eye. Therapy may be challenging and often involves corticosteroids and immunomodulatory agents.
Areas covered: This review describes the genes involved in noninfectious ocular inflammatory diseases and focuses on pharmacogenetic studies regarding different classes of anti-inflammatory drugs used in the management of uveitis, including corticosteroids, antimetabolites, calcineurin inhibitors, alkylating agents, and biological agents.
Expert opinion: Pharmacogenetics holds the promise of a personalized medicine with potential to customize treatment that can achieve the best clinical response and avoid toxicity. Several polymorphisms in various genes involved in the metabolism of drugs commonly utilized in the treatment of ocular inflammatory diseases have been described. Most promising is the polymorphism in thiopurinemethyltransferase gene for which a genotype analysis can reveal slow metabolizers of azathioprine and help avoid serious drug toxicity. Although pharmacogenetic studies with specific focus on ocular inflammatory diseases are lacking, knowledge from studies in rheumatologic diseases and transplant medicine can provide a platform for future research. Prospective clinical studies are needed to determine the clinical significance of such polymorphisms and their true effect on drug metabolism and side effects.