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Phenotype characteristics of patients with age-related macular degeneration carrying a rare variant in the complement factor H gene

JAMA Ophthalmology Oct 25, 2017

Kersten E, et al. - The aim of this study was to delineate the phenotypical characteristics of patients with age-related macular degeneration (AMD) carrying a rare variant in the complement factor H (CFH) gene. It seemed that for upcoming complement-inhibiting therapies, identification of rare CFH variant carriers could be important. A rare variant in the CFH gene was more frequently identified among patients with an extensive drusen area, drusen with crystalline appearance, and drusen nasal to the optic disc. However, carriers cannot be discriminated from noncarriers based solely on phenotypical characteristics from color fundus images. Therefore, authors recommend ophthalmologists to consider genetic testing in patients with these phenotypic characteristics in combination with other patient characteristics, such as early onset, cuticular drusen on fluorescein angiography, and family history of AMD.
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