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Article

Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.

Human mutation - 1 Sept 2021

Khan Adnan H, Sutton Janice, Cree Angela J, Khandhadia Samir, De Salvo Gabriella, Tobin John, Prakash Priya, Arora Rashi, Amoaku Winfried, Charbel Issa Peter, MacLaren Robert E, Bishop Paul N, Peto Tunde, Mohamed Quresh, Steel David H, Sivaprasad Sobha, Bailey Clare, Menon Geeta, Kavanagh David, Lotery Andrew J

Abstract excerpt

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 multicenter, cross-sectional, noninterventional study was undertaken...

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PMID: 34153144
DOI: 10.1002/humu.24242
PMCID: PMC9290714

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