Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.

ABSTRACT:

Importance

Rare variants in the complement factor H (CFH) gene and their association with age-related macular degeneration (AMD) have been described. However, there is limited literature on the phenotypes accompanying these rare variants. Phenotypical characteristics could help ophthalmologists select patients for additional genetic testing.

Objective

To describe the phenotypical characteristics of patients with AMD carrying a rare variant in the CFH gene.

Design, setting, and participants

In this cross-sectional study, we searched the genetic database of the department of ophthalmology at the Radboudumc (tertiary ophthalmologic referral center) and the European Genetic Database for patients with AMD with a rare genetic variant in the CFH gene. Patient recruitment too

SUBMITTER: Kersten E 

PROVIDER: S-EPMC5710490 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature