The potential of DNA methylation as a biomarker for age-related macular degeneration: A systematic review

Age-related macular degeneration (AMD) is a multifactorial disease influenced by genetic and environmental factors, yet its pathogenesis remains incompletely understood. DNA methylation, increasingly recognized as a disease indicator, has been linked to AMD and may represent a promising biomarker or therapeutic target. This systematic review, conducted according to PRISMA 2020 guidelines, analyzed 13 studies addressing DNA methylation in AMD populations (2012-2025). Results revealed that 25% reported hypermethylation, 8% hypomethylation, and 41% both patterns, while 15% found no significant differences. Notably, one study described downregulation of DNA methyltransferases in advanced stages compared with early or intermediate AMD. Despite the limited evidence, findings support the relevance of methylation in AMD prognosis and therapy. Further research with robust methodologies is essential to clarify the role of epigenetic mechanisms in disease progression and to explore their potential for guiding targeted therapeutic strategies.