Abstract
To examine phenotypes of age-related macular degeneration (AMD) patients with the complement factor H (CFH) variant (Y402H, C allele at rs1061170). Clinic-based case series study. The data set contained a total of 956 unrelated cases of AMD. Age-related macular degeneration phenotypes of 796 carriers of the CFH Y402H variant were compared with the AMD phenotypes of 160 noncarriers. Presence or absence of 34 phenotypic features. 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. 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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.