Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study.
OBJECTIVE
To study associations of small, hard macular drusen and peripheral drusen with genotypes associated with age-related 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 microm (OR, 1.9; 95% CI, 1.1-3.1, for CC versus TT genotypes). Macular drusen >63 microm 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. (ClinicalTrials.gov number, NCT00289237).
Munch
Inger Christine
IC
Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark. icm@dadlnet.dk
Ek
Jakob
J
Kessel
Line
L
Sander
Birgit
B
Almind
Gitte Juul
GJ
Brøndum-Nielsen
Karen
K
Linneberg
Allan
A
Larsen
Michael
M
D000328:Adult; D000368:Aged; D011415:Complement Factor B / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics; D015593:Retinal Drusen / Q000235:genetics*
C514392:ARMS2 protein, human; C493495:CFH protein, human; D011506:Proteins; D017242:Complement Factor H; D011415:Complement Factor B