Advances in the association between APOE and ocular diseases

Abstract

The apolipoprotein E gene (APOE) encodes apolipoprotein E (ApoE) and consists of three alleles: APOE ε2, APOE ε3, and APOE ε4. Each allele is associated with varying risks for ocular diseases, including age-related macular degeneration (AMD) and glaucoma. ApoE acts as a critical genetic modifier in these conditions. Notably, deletion of the APOE gene (APOE^−/−) results in retinal thinning and accelerated disease progression through pathways involving lipid metabolism, vascular function, inflammation, and neuroprotection. This study aims to provide a comprehensive review of APOE’s association with AMD and glaucoma. Furthermore, it systematically evaluates retinal changes associated with APOE ε4 deletion and advocates for the integration of large animal models with advanced techniques, such as single-cell omics, to clarify the molecular mechanisms involved in APOE-related retinal pathology.