Eye Disease Genetics and Therapeutics

Pathogenesis of many eye diseases can be traced to certain genetic defects at the cell nuclear level and/or due to deficiency or dysfunctions in the gene product proteins. Deleterious environmental factors, deficiencies in nutraceuticals, inflammation, and aberrant immune responses also cause or synergize with genetic problems to cause or exacerbate the ill-health of the visual system at the structural and functional levels. Identification of genes causing ocular diseases offers the potential for treatment once its gene product is deciphered and its role determined. This chapter will address three major eye diseases, namely, glaucoma (especially primary open-angle glaucoma and ocular hypertension), retinal dystrophies, and pathological myopia. The etiology and genetic origin of the disorders and current and future treatment options encompassing small molecule drugs, antibodies, gene-based therapies, and cell therapies will be detailed. Based on the objectives of this book, emphasis will be given to gene-related therapeutics where possible, linking genetic variations within specific genes to disease and potential mitigation and treatment strategies.