Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.

ABSTRACT:

Purpose

Age-related macular degeneration (AMD) and cuticular drusen (CD), a clinical subtype of AMD, have been linked to genetic variants in the complement factor H (CFH) gene. In this study, we aimed to investigate the frequency of rare variants in the CFH gene in 180 cases with CD. In addition, we aimed to determine the frequency of a previously reported rare, highly penetrant CFH variant (p.Arg1210Cys) in a Dutch-German non-CD-type AMD case-control cohort, and to describe the phenotype of patients carrying the p.Arg1210Cys variant.

Methods

Study subjects were selected from the European Genetic Database (EUGENDA), a joint AMD database of the Radboud University Medical Centre and the University Hospital of Cologne, and graded at the Cologne Image Reading Centre and Laborato

SUBMITTER: Duvvari MR 

PROVIDER: S-EPMC4360166 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature