T and genetic variations between Asian and Caucasian polypoidal choroidal vasculopathy

Abstract

PurposeTo compare phenotypic and genetic variations in polypoidal choroidal vasculopathy (PCV) between Caucasian and Asian patients.MethodsWe analysed phenotypic and genotypic data from two sites, Association for Innovation and Biomedical Research on Light and Image, Portugal and Singapore National Eye Centre, Singapore. Baseline fundus photography, spectral domain-optical coherence tomography, indocyanine green and fluorescein angiography scans were analysed by respective reading centres using a standardised grading protocol. Single nucleotide polymorphisms across 8 PCV loci were compared between cases and controls selected from each population.ResultsOne hundred and forty treatment-naïve PCV participants (35 Portuguese and 105 Singaporean) were included. The Portuguese cohort were older (72.33±8.44 vs 68.71±9.40 years, p=0.043) and were comprised of a lower proportion of males (43% vs 71%, p=0.005) compared with the Singaporean cohort. Differences in imaging features include higher prevalence of soft drusen (66% vs 30%, p=0.004), lower prevalence of subretinal haemorrhage (14% vs 67%, p<0.001), smaller polypoidal lesion (PL) area (0.09±0.09 vs 0.76±0.93 mm2, p<0.001), lower ratio of PL to branching vascular network area (3% vs 38%, p<0.001) and lower central retinal thickness (346.48±93.74 vs 493.16±212.92 µm, p<0.001) in the Portuguese cohort. CETP rs3764261 (OR 2.467; 95% CI 1.282 to 4.745, p=0.006) in the Portuguese population was significantly associated with PCV and CFH rs800292 (OR 1.719; 95% CI 1.139 to 2.596, p=0.010) in the Singaporean population, respectively.ConclusionAmong Asian and Caucasian patients with PCV, there are significant differences in the expression of phenotype. We also identified different polymorphisms associated with PCV in the two populations.

Efficacy and Safety of Intravitreal Aflibercept Treat and Extend for Polypoidal Choroidal Vasculopathy in the ATLANTIC Study: A Randomized Clinical Trial

“…However, the median older age (73.5 years), the high prevalence of soft and intermediate drusen (68%), the small polyp area, the low prevalence of intraretinal and subretinal haemorrhages (18%), and the high rate of complete polyp occlusion (72%) are quite different from Asian populations and bring the PCV cases in our Caucasian population closer to age-related macular degeneration characteristics. Additionally, potential genetic differences in 88 DOI: 10.1159/000518235 a Caucasian population [11][12][13][14]29] when comparing to an Asian population, cannot be excluded. Of note, part of the population of our study was evaluated in a recent work, which revealed significant phenotypic and genetic differences among Asian and Caucasian patients with PCV, particularly in the expression of specific polymorphisms which can be associated with increased risk for PCV [14].…”

“…Additionally, potential genetic differences in 88 DOI: 10.1159/000518235 a Caucasian population [11][12][13][14]29] when comparing to an Asian population, cannot be excluded. Of note, part of the population of our study was evaluated in a recent work, which revealed significant phenotypic and genetic differences among Asian and Caucasian patients with PCV, particularly in the expression of specific polymorphisms which can be associated with increased risk for PCV [14].…”

“…Although this clinical entity is far more common in Asian individuals (25-65%) with neovascular age-related macular degeneration [5,6], it has been increasingly recognized among Caucasian populations, in which it has been described as representing between 8 and 31.9% of neovascular age-related macular degeneration cases [7][8][9][10]. Despite sharing some clinical features and risk factors, these populations can have different genetic backgrounds, epidemiologic characteristics, natural history, and treatment outcomes, suggesting distinct pathophysiologic processes [5,[11][12][13][14]. However, the best treatment is neither well defined nor unanimous and studies in Caucasians are scarce [10,[15][16][17][18][19].…”

“…To our knowledge, no multicenter RCT has been conducted in Caucasian populations to evaluate the efficacy and safety of IVAI in a treat-and-extend (T&E) regimen for PCV as monotherapy or in combination with standard fluence verteporfin PDT (vPDT). Considering that several genetic variants associated with PCV do not appear to translate across ethnic lines [11,14,[27][28][29], it is an important proof of concept to evaluate whether this combination regimen is superior to aflibercept monotherapy in Caucasian individuals. Hence, the present RCT evaluates the safety and efficacy of aflibercept monotherapy in a T&E regimen and the potential benefit of adding standard fluence PDT with verteporfin in a Caucasian population with treatment-naive PCV.…”

Thermal Laser Monotherapy for Extrafoveal Polypoidal Choroidal Vasculopathy

“…Among Asian and Caucasian patients with PCV, there are nevertheless significant differences in the expression of the phenotype [6]. While for Asian patientsʼ polyps are mostly distributed in the macula, for Europeans, a parapapillary location of the polyps is more common [7].…”