TY - JOUR
T1 - Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study
AU - Munch, Inger Christine
AU - Ek, Jakob
AU - Kessel, Line
AU - Sander, Birgit
AU - Almind, Gitte Juul
AU - Brøndum-Nielsen, Karen
AU - Linneberg, Allan
AU - Larsen, Michael
AU - Munch, Inger Christine
AU - Ek, Jakob
AU - Kessel, Line
AU - Sander, Birgit
AU - Almind, Gitte Juul
AU - Brøndum-Nielsen, Karen
AU - Linneberg, Allan
AU - Larsen, Michael
N1 - Keywords: Adult; Aged; Complement Factor B; Complement Factor H; Female; Genotype; Humans; Macular Degeneration; Male; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Proteins; Retinal Drusen
PY - 2010/5/1
Y1 - 2010/5/1
N2 - Purpose. To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with agerelated macular degeneration (AMD). Methods. Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30 to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB). Results. The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4 -13, for CC versus TT genotypes) as was macular drusen >63 μm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 μm were associated with the presence of 20 or more small, hard macular drusen (OR, 1.7; 95% CI, 1.1-2.6) and with peripheral drusen (OR, 2.5; 95% CI,1.2-5.4) Conclusions. In this study, the presence of 20 or more small, hard macular drusen per eye was not associated with known AMD-related polymorphisms, whereas the study confirmed an association of peripheral drusen with CFHY402H.
AB - Purpose. To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with agerelated macular degeneration (AMD). Methods. Digital grayscale fundus photographs recorded in red-free illumination were graded for the presence of drusen in 1107 subjects aged 30 to 66 years. Participants were genotyped for AMD-related polymorphisms in complement factor H (CFH), in LOC387715, and in complement factor B (CFB). Results. The prevalence of 20 or more small, hard macular drusen per eye was 14%, with no association to the investigated polymorphisms. Peripheral drusen were associated with CFHY402H (odds ratio [OR], 4.3; 95% confidence interval [95% CI], 1.4 -13, for CC versus TT genotypes) as was macular drusen >63 μm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 μm were associated with the presence of 20 or more small, hard macular drusen (OR, 1.7; 95% CI, 1.1-2.6) and with peripheral drusen (OR, 2.5; 95% CI,1.2-5.4) Conclusions. In this study, the presence of 20 or more small, hard macular drusen per eye was not associated with known AMD-related polymorphisms, whereas the study confirmed an association of peripheral drusen with CFHY402H.
U2 - 10.1167/iovs.09-4482
DO - 10.1167/iovs.09-4482
M3 - Journal article
C2 - 20007824
SN - 0146-0404
VL - 51
SP - 2317
EP - 2321
JO - Investigative Ophthalmology & Visual Science
JF - Investigative Ophthalmology & Visual Science
IS - 5
ER -