The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a major risk factor for AMD. Recent evidences supported the role of inflammation in the pathogenesis of some retinal dystrophies. Aim of this study was to evaluate the prevalence of CFHY402H polymorphism in a group of Italian patients affected by atrophic AMD, Stargardt disease (STGD), or retinitis pigmentosa(RP).
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease / Andrea Sodi, Ilaria Passerini, Daniela Bacherini, Luca Boni, Simona Palchetti, Vittoria Murro, Orsola Caporossi, Dario Pasquale Mucciolo, Franco Fabrizio, Lorenzo Vannozzi, Francesca Torricelli, Elisabetta Pelo, Stanislao Rizzo, Gianni Virgili. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - ELETTRONICO. - 39:(2018), pp. 699-705. [10.1080/13816810.2018.1525753]
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease
Andrea Sodi;Ilaria Passerini;Daniela Bacherini;Luca Boni;Simona Palchetti;Vittoria Murro;Orsola Caporossi;Dario Pasquale Mucciolo;Franco Fabrizio;Lorenzo Vannozzi;Francesca Torricelli;Elisabetta Pelo;Stanislao Rizzo;Gianni Virgili
2018
Abstract
The complement system has been implicated in the pathogenesis of age-related macular degeneration (AMD) and the CFH Y402H polymorphism has been suggested as a major risk factor for AMD. Recent evidences supported the role of inflammation in the pathogenesis of some retinal dystrophies. Aim of this study was to evaluate the prevalence of CFHY402H polymorphism in a group of Italian patients affected by atrophic AMD, Stargardt disease (STGD), or retinitis pigmentosa(RP).
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