The role of molecular genetic factors in age-related macular degeneration

• Autor(a) principal: Almeida,Luciana Negrão Frota de
• Data de Publicação: 2009
• Outros Autores: Carolino,Rachel Melilo, Sperandio,Diogo Cazelli, Nehemy,Márcio Bittar, De Marco,LA
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos brasileiros de oftalmologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492009000400027
• topic: Macular degeneration/etiology; Age effect; Complement factor H/genetics; Base sequence; Polymorphism, single nucleotide; Inflammation

Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Although the etiology of AMD remains largely unknown, numerous studies have suggested that both genes and environmental risk factors significantly influence the risk of developing AMD. Recently, single nucleotide polymorphisms, DNA sequence variations found within the complement factor H (CFH) gene, have been found to be strongly associated with the development of AMD. Several other genes have had at least one positive association finding and deserve further exploration. The purpose of this review is to provide an extensive report of the current data of AMD genetics and the contribution of this knowledge helps to the better understanding of its pathophysiology.