ArticleOphthalmology science2026
Geographic Atrophy in Patients with Age-Related Macular Degeneration Is Associated with Rare Variants in Complement Factor H and Complement Factor I.
Article in Ophthalmology science, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
10 authors.
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Abstract
Purpose: To describe the phenotype of patients with age-related macular degeneration (AMD) carrying rare genetic variants in the complement factor H ( Design: Cross-sectional study. Participants: Two hundred thirty-four patients with AMD carrying rare variants in Methods: Genetic data of patients with AMD from the European Genetic Database were filtered for rare coding and splice-site variants in Main Outcome Measures: Phenotypic characteristics on color fundus photographs. Results: Geographic atrophy and intermediate AMD, along with features such as predominant drusen type, largest drusen size, and drusen area, were associated with carriership of rare pathogenic variants in Conclusions: In this study, patients with AMD carrying rare variants in Financial Disclosures: The authors have no proprietary or commercial interest in any materials discussed in this article.
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