CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
Andrea SodiIlaria PasseriniDaniela BacheriniLuca BoniSimona PalchettiVittoria MurroOrsola CaporossiDario Pasquale MuccioloFabrizio FrancoLorenzo VannozziFrancesca TorricelliElisabetta PeloStanislao RizzoGianni VirgiliPublished in: Ophthalmic genetics (2018)
In our series of Italian patients, the CFHY402H genotype is associated with atrophic AMD and RP, but not with STGD. This result may support the hypothesis of a complement system dysregulation in the pathogenesis of AMD and RP.