4.4 Article

The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration

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SPRINGER
DOI: 10.1007/s00417-014-2690-7

关键词

Genetics; CFH; ARMS2; ABCA1; Drusen; Phenotype; Early age-related macular degeneration

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  1. Deutsche Forschungsgemeinschaft [HE 2293/5-1, 5-2, 5-3, PA 357/7-1]
  2. Intramural Fund (IMF) of the Medical Faculty of the University of Munster
  3. Pro Retina Foundation
  4. Jackstaedt Foundation

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Genetic factors contribute to the development and progression of age-related macular degeneration (AMD). We aimed to assess the association of drusen as phenotypic characteristics of early AMD and their progression with polymorphisms in the CFH, ABCA1, and ARMS2 genes. In the Munster Aging and Retina Study (MARS), drusen were detected in 406 patients with early AMD and 170 healthy controls according to the International Classification using fundus photographs, with a follow-up examination after 2.6 years (median). Six drusen features were assessed: drusen number (

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