Personalized Medicine in Ophthalmology: From Pharmacogenetic Biomarkers to Therapeutic and Dosage Optimization

Abstract

Rapid progress in genomics and nanotechnology continue to advance our approach to patient care, from diagnosis and prognosis, to targeting and personalization of therapeutics. However, the clinical application of molecular diagnostics in ophthalmology has been limited even though there have been demonstrations of disease risk and pharmacogenetic associations. There is a high clinical need for therapeutic personalization and dosage optimization in ophthalmology and may be the focus of individualized medicine in this specialty. In several retinal conditions, such as age-related macular degeneration, diabetic macular edema, retinal vein occlusion and pre-threshold retinopathy of prematurity, anti-vascular endothelial growth factor therapeutics have resulted in enhanced outcomes. In glaucoma, recent advances in cytoskeletal agents and prostaglandin molecules that affect outflow and remodel the trabecular meshwork have demonstrated improved intraocular pressure control. Application of recent developments in nanoemulsion and polymeric micelle for targeted delivery and drug release are models of dosage optimization, increasing efficacy and improving outcomes in these major eye diseases.

MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension

“…Detailed knowledge of drug pharmacogenetics enables patient management to be optimized by dosage customized according to an individual’s genetic profile 7 , 8 . The main medical value of this approach is that it is possible to predict, for each individual, whether a drug at a specific dose will be effective or whether it should be avoided due to a high risk of toxicity or lack of response 8 , 9 . To date, the most common and most extensively studied inter-individual genetic variations that shape pharmacological response are single nucleotide variations together with small insertions/deletions (indels).…”

Biomarkers of Neurodegeneration and Precision Therapy in Retinal Disease

“…In ophthalmology, precision medicine represents an effective approach for treating ocular tumors ( Straatsma, 2018 ). In addition, this strategy is being applied successfully in the management of the inherited diseases ( Ong et al, 2013 ). In the recent years, precision therapy has gained increasing interest for the management of retinal diseases.…”

Current Medical Therapy and Future Trends in the Management of Glaucoma Treatment

“…ese biomarkers may serve as diagnostic, predictive, prognostic biomarkers or indicate patients' response to drug or surgery [158,159]. Recently, aqueous veins were found to be a potential structural biomarker predicting the outcome of Schlemm's canal-based glaucoma surgery [160].…”

“…With the advances in technology including imaging, genomic, metabolomic, and proteomic techniques, potential new biomarkers are generated and need to be validated in large patients' populations with different ethnicity and stage of glaucoma [ 156 , 157 ]. These biomarkers may serve as diagnostic, predictive, prognostic biomarkers or indicate patients' response to drug or surgery [ 158 , 159 ]. Recently, aqueous veins were found to be a potential structural biomarker predicting the outcome of Schlemm's canal-based glaucoma surgery [ 160 ].…”