Article
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
PloS one - 1 Jan 2016
Duvvari Maheswara R, van de Ven Johannes P H, Geerlings Maartje J, Saksens Nicole T M, Bakker Bjorn, Henkes Arjen, Neveling Kornelia, del Rosario Marisol, Westra Dineke, van den Heuvel Lambertus P W J, Schick Tina, Fauser Sascha, Boon Camiel J F, Hoyng Carel B, de Jong Eiko K, den Hollander Anneke I
Abstract excerpt
Age-related macular degeneration (AMD) is the leading cause of irreversible blindness in elderly people worldwide. Cuticular drusen (CD) is a clinical subtype of AMD, which typically displays an earlier age at onset, and has a strong genetic component. Genetic studies support a role for rare sequence variants in CD susceptibility, and rare sequence variants in the CFH gene have been identified in 8.8% of CD...
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