Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.

ABSTRACT:

Importance

Early-onset drusen maculopathy (EODM) is a severe disease and can lead to advanced macular degeneration early in life; however, genetic and phenotypic characteristics of individuals with EODM are not well studied.

Objective

To identify genotypic and phenotypic characteristics of individuals with EODM.

Design, setting, and participants

This case-control study collected data from the European Genetic Database from September 2004 to October 2019. A total of 89 patients with EODM diagnosed at 55 years or younger and 91 patients with age-related macular degeneration (AMD) diagnosed at 65 years or older were included.

Exposures

Coding regions of CFH, CFI, C3, C9, CFB, ABCA4, PRPH2, TIMP3, and CTNNA1 genes were sequenced, genetic risk scores (GRS) were calc

SUBMITTER: de Breuk A 

PROVIDER: S-EPMC8517879 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature