title: Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration.
abstract: 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.
authors: Duke University Eye Center, Durham, North Carolina 27710, USA.
authors: R Keith
authors: RK
authors: Shuler
authors: Silke
authors: S
authors: Schmidt
authors: Paul
authors: P
authors: Gallins
authors: Michael A
authors: MA
authors: Hauser
authors: William K
authors: WK
authors: Scott
authors: Jennifer
authors: J
authors: Caldwell
authors: Anita
authors: A
authors: Agarwal
authors: Jonathan L
authors: JL
authors: Haines
authors: Margaret A
authors: MA
authors: Pericak-Vance
authors: Eric A
authors: EA
authors: Postel
mesh_terms: 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
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H