Age-related macular degeneration (AMD) is a retinal degenerative disease closely associated with oxidative stress and dysregulation of polygenic mechanisms. Due to the absence of blood vessels in the macular region, its high dependence on oxygen renders it particularly susceptible to oxidative stress. Oxidative stress impairs the function of retinal pigment epithelium (RPE) cells, leading to metabolic dysregulation, apoptosis, and cellular damage. It also disrupts choroidal vascular function, characterized by abnormal neovascularization and endothelial dysfunction. Moreover, excessive activation of the complement system promotes inflammatory cell infiltration and the release of pro-inflammatory cytokines. Collectively, these processes constitute one of the key pathogenic mechanisms underlying AMD. This paper highlights the pathogenic associations between AMD progression and dysregulated expression in antioxidant enzyme genes (e.g., superoxide dismutase, catalase, glutathione peroxidase), inflammation-related genes (e.g., complement and cytokine-related genes), and other relevant genes (e.g., vascular endothelial growth factor, heme oxygenase-1, apolipoprotein E, ferroptosis-related genes, age-related maculopathy susceptibility 2 gene). Potential therapeutic strategies, including gene editing to correct oxidative stress-related genetic defects and pharmacological interventions targeting oxidative stress-associated genes, are also elaborated, aiming to provide new insights into AMD prevention and treatment.
