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Article

Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.

JAMA ophthalmology - 1 Oct 2017

Kersten Eveline, Geerlings Maartje J, den Hollander Anneke I, de Jong Eiko K, Fauser Sascha, Peto Tunde, Hoyng Carel B

Abstract excerpt

Importance: Rare variants in the complement factor H (CFH) gene and their association with age-related macular degeneration (AMD) have been described. However, there is limited literature on the phenotypes accompanying these rare variants. Phenotypical characteristics could help ophthalmologists select patients for additional genetic testing. Objective: To describe the phenotypical characteristics of patients...

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Identifiers

PMID: 28859202
DOI: 10.1001/jamaophthalmol.2017.3195
PMCID: PMC5710490

Genes

CFH

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