""Two major susceptibility genes, complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), have been. implicated in age-related macular degeneration (AMD) pathogenesis. We analyzed the association between CFH rs1061170 and\\\/or ARMS2. rs10490924 polymorphisms with central retinal function properties, as evaluated by focal electroretinogram (fERG). Forty early AMD. patients, with preserved visual acuity and typical macular lesions, underwent fERG recording (in response to 41 Hz flicker stimuli presented. to the central 18 degrees) and CFH\\\/ARMS2 genotyping. Mean fERG amplitude and sensitivity decreased in patients carrying CFH. rs1061170 polymorphism (p 0.01), compared with wild type ones, although visual acuity and funduscopic features were similar across. the 2 groups. No significant fERG phase changes were observed. No association was detected between ARMS2 (rs10490924) polymorphism. and fERG parameters. Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD. patients, and support the hypothesis that dysfunctional CFH might result in early retinal function loss due to a reduction in the immune. antioxidant defense mechanism.. © 2012 Elsevier Inc. All rights reserved.. Keywords: Age-related macular degeneration; Complement factor H; Early diagnosis; Electroretinography; Flicker sensitivity; Gene polymorphisms""

Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients.

MARANGONI, DARIO;BISTI, SILVIA;
2012-01-01

Abstract

""Two major susceptibility genes, complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), have been. implicated in age-related macular degeneration (AMD) pathogenesis. We analyzed the association between CFH rs1061170 and\\\/or ARMS2. rs10490924 polymorphisms with central retinal function properties, as evaluated by focal electroretinogram (fERG). Forty early AMD. patients, with preserved visual acuity and typical macular lesions, underwent fERG recording (in response to 41 Hz flicker stimuli presented. to the central 18 degrees) and CFH\\\/ARMS2 genotyping. Mean fERG amplitude and sensitivity decreased in patients carrying CFH. rs1061170 polymorphism (p 0.01), compared with wild type ones, although visual acuity and funduscopic features were similar across. the 2 groups. No significant fERG phase changes were observed. No association was detected between ARMS2 (rs10490924) polymorphism. and fERG parameters. Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD. patients, and support the hypothesis that dysfunctional CFH might result in early retinal function loss due to a reduction in the immune. antioxidant defense mechanism.. © 2012 Elsevier Inc. All rights reserved.. Keywords: Age-related macular degeneration; Complement factor H; Early diagnosis; Electroretinography; Flicker sensitivity; Gene polymorphisms""
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11697/89472
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