The age-related macular degeneration (AMD) is a progressive neurodegenerative disease, which affects quality of life for millions of individuals worldwide.
AMD is associated with different spectrum of clinical phenotypes, all of which include the death of photoreceptors and other retinal neurons in the central part of the retina – called the macula.
In AMD, the properties of the macula are damaged and the images transmitted to our brain are of poor quality. Because of important differences in cell types and cell connectivity, the peripheral retina cannot take over function of the macula and vision is impaired.
What is known about the genetic susceptibility to AMD ?
AMD, being a complex genetic disorder, is attributed to multiple genes with varying magnitudes of effect (Edwards and Malek, 2007; Katta et al., 2009). Along with genetic variants, environmental factors such as age, smoking, gender and body mass index play a major role in the disease pathogenesis. Gene and environment interactions are the hallmarks of AMD susceptibility.
Alterations in DNA changes that can predispose patients to AMD come in two varieties: those which affect sequences that encode proteins and those which affect sequences that control the expression of genes (so-called ‘non-coding’ changes).