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Rare variants in the Complement Factor I (CFI) gene, associated with low serum Factor I (FI) levels, are strong risk factors for developing the advanced stages of Age-Related Macular Degeneration (AMD). No studies have been undertaken on the prevalence of disease-causing CFI mutations in patients with Geographic Atrophy (GA) secondary to AMD. A multi-centre, cross-sectional, non-interventional study was undertaken to identify the prevalence of pathogenic rare CFI gene variants in an unselected cohort of patients with GA and low FI levels. A genotype-phenotype study was performed. Four hundred and sixty-eight patients with GA secondary to AMD were recruited to the study, and 19.4% (n=91) demonstrated a low serum FI concentration (below 15.6 μg/ml). CFI gene sequencing on these patients resulted in detection of rare CFI variants in 4.7% (n=22) of recruited patients. The prevalence of CFI variants in patients with low serum FI levels and GA was 25%. Of total patients recruited, 3.2% (n=15) expressed a CFI variant classified as pathogenic or likely pathogenic. The presence of reticular pseudodrusen (RPD) was detected in all patients with pathogenic CFI gene variants. Patients with pathogenic CFI gene variants and low serum FI levels might be suitable for FI supplementation in therapeutic trials. This article is protected by copyright. All rights reserved.

Original publication

DOI

10.1002/humu.24242

Type

Journal article

Journal

Hum Mutat

Publication Date

21/06/2021

Keywords

Age-Related Macular Degeneration, Complement Factor I, Factor I, Geographic Atrophy, Reticular Pseudodrusen