Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration.
OBJECTIVE
To examine phenotypes of age-related macular degeneration (AMD) patients with the complement factor H (CFH) variant (Y402H, C allele at rs1061170).


METHODS
Clinic-based case series study.


METHODS
The data set contained a total of 956 unrelated cases of AMD.


METHODS
Age-related macular degeneration phenotypes of 796 carriers of the CFH Y402H variant were compared with the AMD phenotypes of 160 noncarriers.


METHODS
Presence or absence of 34 phenotypic features.


RESULTS
Of the 34 features analyzed, only peripheral reticular pigmentary change (PRPC) was associated with this CFH variant (P = 0.0006). The proportion of AMD cases with PRPC correlated with the number of CFH risk C alleles in a dose-response fashion.


CONCLUSIONS
The CFH Y402H polymorphism is associated with PRPC, suggesting that AMD changes are not limited to the macula. Current AMD grading methods assess only the macula and should consider incorporating peripheral retinal changes. Phenotypes that suggest a high-risk genotype may prove valuable for diagnostic, therapeutic, and research purposes.
Shuler
R Keith
RK
Duke University Eye Center, Durham, North Carolina 27710, USA.
Schmidt
Silke
S
Gallins
Paul
P
Hauser
Michael A
MA
Scott
William K
WK
Caldwell
Jennifer
J
Agarwal
Anita
A
Haines
Jonathan L
JL
Pericak-Vance
Margaret A
MA
Postel
Eric A
EA
D000368:Aged; D017242:Complement Factor H / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D010641:Phenotype; D010857:Pigment Epithelium of Eye / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide
C493495:CFH protein, human; D017242:Complement Factor H