ARMS2 is thought to play a role in diseases in the elderly. Mutations in this gene have been associated with age-related macular degeneration (ARMD). ARMD is the most common cause of irreversible vision loss. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin containing structure known as Bruchs membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders, and the specific disease mechanisms that underlie the vast majority of cases are currently unknown. However, studies have suggested that both genetic and environmental factors may be implicated.
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