We investigated the clinical and genetic characteristics of patients with unilateral exudative age-related macular degeneration (AMD), including typical AMD, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation, in whom pachydrusen was seen. Patients with unilateral exudative AMD with at least a 12-month follow-up period were included. According to the fellow eye condition, 327 consecutive patients were classified into 4 groups: Group 0: no drusen (42.8%), Group 1: pachydrusen (12.2%), Group 2: soft drusen (30.3%), Group 3: pseudodrusen with or without soft drusen (14.7%). Development of exudative AMD in the fellow eye was retrospectively studied for a 60-month period and this inter-group comparisons were performed. Genotyping was performed for
ARMS2
A69S and
CFH
I62V. The thickness of the choroid in the fellow eyes increased significantly in Group 1 than in other groups (all P < 1.0 × 10
−7
). The development of exudative AMD in the fellow eye was significantly less frequent in Group 1 than in Groups 2 or 3 (P = 0.022 and 0.0015, respectively). Risk allele frequency of
ARMS2
A69S was significantly lower in Group 1 than in Group 2 and 3 (all P < 1.0 × 10
−4
). Patients with pachydrusen have genetic and clinical characteristics distinct from those of soft drusen and pseudodrusen.
The combination of PDT with IAI as the initial treatment for PCV may be superior to IAI monotherapy in terms of disease-stabilizing efficacy, but with equivalent visual gain at 12 months.
There is a pharmacogenetic association between the LOC387715 A69S variant and the long-term results after photodynamic therapy in eyes with PCV. The LOC387715 A69S genotype is of clinical importance to predict the visual prognosis after photodynamic therapy in eyes with PCV. These results should be confirmed or refuted by replication studies.
ObjectiveTo investigate the prevalence and genetic characteristics of geographic atrophy (GA) among elderly Japanese with advanced age-related macular degeneration (AMD) in a clinic-based study.
MethodsTwo-hundred and ninety consecutive patients with advanced AMD were classified into typical neovascular AMD, polypoidal choroidal vasculopathy (PCV), retinal angiomatous proliferation (RAP) or geographic atrophy (GA). Genetic variants of ARMS2 A69S (rs10490924) and CFH I62V (rs800292) were genotyped using TaqMan Genotyping Assays. The clinical and genetic characteristics were compared between patients with and without GA.
ResultsThe number of patients diagnosed as having typical neovascular AMD, PCV, RAP and GA were 98 (33.8%), 151 (52.1%), 22 (7.5%) and 19 (6.6%), respectively. Of 19 patients with GA, 13 patients (68.4%) had unilateral GA with exudative AMD in the contralateral eye. Patients with GA were significantly older, with a higher prevalence of reticular pseudodrusen, bilateral involvement of advanced AMD and T-allele frequency of ARMS2 A69S compared with those with typical AMD and PCV; although there were no differences in the genetic and clinical characteristics among patients with GA and RAP.
ConclusionsThe prevalence of GA was 6.6% among elderly Japanese with AMD. Patients with GA and RAP exhibited genetic and clinical similarities.
Photodynamic therapy (PDT) combined with intravitreal anti-vascular endothelial growth factor (VEGF) agents is currently the first-line treatment for polypoidal choroidal vasculopathy (PCV), along with anti-VEGF monotherapy. In this study, 100 eyes with treatment-naïve PCV were initially treated with PDT combined with intravitreal ranibizumab (IVR; n = 57) or aflibercept (IVA; n = 43). We compared two-year outcomes between these two groups and investigated factors associated with visual improvement and retreatment over 24 months. Best-corrected visual acuity (BCVA) was significantly improved in both groups (P < 0.001) at 24 months. Multiple regression analysis revealed that visual improvement at 24 months was associated with female (P = 0.030), worse baseline BCVA (P = 3.0 × 10−6), smaller greatest linear dimension (GLD; P = 2.0 × 10−4), and treatment with IVA rather than IVR (P = 0.016). Multiple logistic regression analysis revealed that absence of retreatment was associated with younger age (P = 2.2 × 10−4), female (P = 1.2 × 10−3), and the non-risk variants of ARMS2 A69S (P = 6.0 × 10−4). Although there were no significant differences in the retreatment rate between the two groups, PDT/IVA may be superior to PDT/IVR in terms of visual improvement at 24 months.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.