TY - JOUR
T1 - Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients
AU - Capoluongo, Ettore Domenico
AU - Concolino, Paola
AU - Piccardi, Marco
AU - Marangoni, Dario
AU - Mello, Enrica
AU - Minnella, Angelo Maria
AU - Savastano, Maria Cristina
AU - Fadda, Antonello
AU - Zuppi, Cecilia
AU - Bisti, Silvia
AU - Falsini, Benedetto
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - AMD
KW - AMD
UR - http://hdl.handle.net/10807/32952
U2 - 10.1016/j.neurobiolaging.2012.03.008
DO - 10.1016/j.neurobiolaging.2012.03.008
M3 - Article
SN - 0197-4580
SP - 1852.E5-1852.E12
JO - Neurobiology of Aging
JF - Neurobiology of Aging
ER -