AMD and genetic research

AMD is a maculopathy with a complex, multifactorial aetiology, the pathogenesis of which is linked to genetic, behavioural and environmental factors. Researchers have also taken into account as predisposing factors the mutations underlying inflammatory dysregulation (dysfunction of the complement cascade, linked to variants in the CFH gene), the lipid metabolism deficit, I oxidative stress and some structural defects in Bruch's membrane (linked to variants in extracellular matrix protein genes). It does not seem possible that a single genetic modification can be identified as the direct cause of AMD. Recent studies have identified some unique polymorphisms that seem to confer a real risk of developing this disease. The most promising seem to be certain loci found on chromosome 1, called ARMD1, and a locus on chromosome 10 (10q26).