Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration.

ABSTRACT:

Importance

The complement factor H R1210C rare variant confers the strongest genetic risk for age-related macular degeneration and earlier age at onset; however, its associated phenotype has not been well characterized.

Objective

To describe specific fundus features of a white population with the R1210C rare variant.

Design, setting, and participants

Fundus features specific for diagnosis and disease staging were retrospectively characterized by systematic review of all available fundus images for each patient, including color photography, fluorescein angiography, fundus autofluorescence, and optical coherence tomography, at a tertiary ophthalmologic referral center. For this retrospective observational study conducted from 2012 to 2014, enrolled patients with the var

SUBMITTER: Ferrara D 

PROVIDER: S-EPMC6516461 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature