title: [Genotyping in progressive age-related macular degeneration].
abstract: After presenting both the prevalence and the staging of the age-related macular degeneration (AMD), the disease progression is discussed; it is determined primarily by genetic factors but is also influenced by environmental, demographic and behavioral factors. The genes working by means of the high-density lipoprotein cholesterol (HDL) pathway have critical roles in the drusen initiation in the early AMD stages. After the drusen have accumulated between retinal pigment epithlium (RPE) and Bruch's membrane, the genes acting in the alternative complement pathway are activated so influencing in this way the progression from the intermediate and large drusen to the advanced AMD stages (e.g. the geographic atrophy of the RPE and neovascular stages).
authors.affiliation: Clinica de Oftalmologie Iaşi.
authors.forename: Dan
authors.initials: D
authors.lastname: Calugaru
mesh_terms: D015415:Biomarkers / Q000378:metabolism; D016570:Bruch Membrane / Q000378:metabolism; D008076:Cholesterol, HDL / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics; D051056:Complement Inactivating Agents / Q000378:metabolism; D018450:Disease Progression; D005838:Genotype; D006801:Humans; D008049:Lipase / Q000235:genetics; D008268:Macular Degeneration / Q000453:epidemiology / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D061965:Matrix Metalloproteinase Inhibitors / Q000378:metabolism; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000378:metabolism; D011110:Polymorphism, Genetic; D015995:Prevalence; D015593:Retinal Drusen / Q000235:genetics; D018570:Risk Assessment; D012307:Risk Factors; D012383:Romania / Q000453:epidemiology; D019717:Tissue Inhibitor of Metalloproteinase-3 / Q000235:genetics
chemical_list: D015415:Biomarkers; D008076:Cholesterol, HDL; D051056:Complement Inactivating Agents; C504173:LIPC protein, human; D061965:Matrix Metalloproteinase Inhibitors; D019717:Tissue Inhibitor of Metalloproteinase-3; D017242:Complement Factor H; D008049:Lipase