Abstract

Purpose: To clarify the association of complement factor H (CFH) gene polymorphisms with the effects of photodynamic therapy (PDT) in polypoidal choroidal vasculopathy (PCV). Methods: Ninety-three PCV subjects treated with PDT were recruited. Patients who showed anatomical success after the treatments with a single or two consecutive PDT sessions were classified as PDT responders. All others were classified as non-PDT responders. Three single nucleotide polymorphisms (SNPs), rs800292 (I62V), rs1061170 (Y402H) and rs1410996 were genotyped using the TaqMan assay. Results: The genotype and allelic frequency of rs1061170 (Y402H) and rs1410996 were significantly different between PDT responders and non-responders. In these SNPs, the risk alleles for PCV prevalence were beneficial for PDT response. In the time course analysis, the cases with C/C genotype in rs1410996 showed a significant increase of mean visual acuity at 6 and 12 months after the first PDT. Conclusions: The coding variants in CFH may be associated with the effects of PDT in PCV.

Highlights

  • Polypoidal choroidal vasculopathy (PCV) is a phenotype of agerelated macular degeneration (AMD), a major cause of blindness in the elderly in industrial countries [1]

  • In neovascular AMD, Brantley et al [12] reported an association of the complement factor H (CFH) Y402H variant with the visual outcome after photodynamic therapy (PDT) [12]

  • We are interested in the association of CFH variants with the response to PDT in polypoidal choroidal vasculopathy (PCV) cases, since PCV showed a poor association with CFH Y402H variants in the Japanese population [20]

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Summary

Introduction

Polypoidal choroidal vasculopathy (PCV) is a phenotype of agerelated macular degeneration (AMD), a major cause of blindness in the elderly in industrial countries [1]. PCV often shows spontaneous regression in its natural course, but on the other hand, it often causes severe hemorrhagic and exudative changes that result in a poor visual prognosis [5]. The clinical risk factors for a poor prognosis in PCV have been previously evaluated [5,6], but the molecular mechanisms responsible for the outcomes of the natural course or any interventions have not been reported yet. In neovascular AMD, Brantley et al [12] reported an association of the CFH Y402H variant with the visual outcome after PDT [12]. We are interested in the association of CFH variants with the response to PDT in PCV cases, since PCV showed a poor association with CFH Y402H variants in the Japanese population [20]

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