Pachychoroid neovasculopathy is a recently proposed clinical entity of choroidal neovascularization (CNV). As it often masquerades as neovascular age-related macular degeneration (AMD), it is currently controversial whether pachychoroid neovasculopathy should be distinguished from neovascular AMD. This is because its characteristics have yet to be well described. To estimate the relative prevalence of pachychoroid neovasculopathy in comparison with neovascular AMD and to investigate the phenotypic/genetic differences of the two diseases, we evaluated 200 consecutive Japanese patients who agreed to participate in the genetic study and diagnosed with pachychoroid neovasculopathy or neovascular AMD. Pachychoroid neovasculopathy was observed in 39 individuals (19.5%), which corresponds to one fourth of neovascular AMD. Patients with pachychoroid neovasculopathy were significantly younger (p = 5.1 × 10−5) and showed a greater subfoveal choroidal thickness (p = 3.4 × 10−14). Their genetic susceptibility to AMD was significantly lower than that of neovascular AMD; ARMS2 rs10490924 (p = 0.029), CFH rs800292 (p = 0.013) and genetic risk score calculated from 11 AMD susceptibility genes (p = 3.8 × 10−3). Current results implicate that the etiologies of the two conditions must be different. Thus, it will be necessary to distinguish these two conditions in future studies.
Age-related macular degeneration (AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome-wide and exome-wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians (GAMA) Consortium. We find a strong association between CETP Asp442Gly (rs2303790), an East Asian-specific mutation, and increased risk of AMD (odds ratio (OR)=1.70, P=5.60 × 10−22). The AMD risk allele (442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l−1 (P=5.82 × 10−21) in East Asians (n=7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala (OR=0.78, P=6.19 × 10−18), SLC44A4 Asp47Val (OR=1.27, P=1.08 × 10−11) and FGD6 Gln257Arg (OR=0.87, P=2.85 × 10−8). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature.
The purpose of the present study was to evaluate the mechanical durability of a zirconia/alumina nanocomposite stabilized with cerium oxide (Ce-TZP/Al(2)O(3) nanocomposite) in comparison to yttria-stabilized tetragonal zirconia polycrystals (Y-TZP) and discuss its application on ceramic dental restorations. The disk-shaped specimens of both materials were stored in physiological saline solution at 80 degrees C for 30 days, in 4% acetic acid at 80 degrees C for 30 days, and in an autoclave at 121 degrees C for 10 days. Before and after storage, specimens were subjected to the biaxial flexure test and to the determination of the monoclinic zirconia content. After autoclaving, Y-TZP showed remarkable increasing of the content of monoclinic zirconia: 0.3 vol % before and 49.9 vol % after, and slight decreasing of biaxial flexure strength: 1046 MPa before and 892 MPa after; whereas Ce-TZP/Al(2)O(3) nanocomposite showed no significant difference in the monoclinic content (4.8-5.5 vol %) and the biaxial flexure strength (1371-1422 MPa) after storage in any conditions. It is concluded that, compared to Y-TZP, the Ce-TZP/Al(2)O(3) nanocomposite has a high biaxial flexure strength along with a satisfactory durability in terms of low-temperature aging degradation in above conditions. This study indicates that the Ce-TZP/Al(2)O(3) nanocomposite demonstrates excellent mechanical durability for dental restorations such as all-ceramic bridges.
Myopia is one of the most common ocular disorders worldwide. Pathological myopia, also called high myopia, comprises 1% to 5% of the general population and is one of the leading causes of legal blindness in developed countries. To identify genetic determinants associated with pathological myopia in Japanese, we conducted a genome-wide association study, analyzing 411,777 SNPs with 830 cases and 1,911 general population controls in a two-stage design (297 cases and 934 controls in the first stage and 533 cases and 977 controls in the second stage). We selected 22 SNPs that showed P-values smaller than 10−4 in the first stage and tested them for association in the second stage. The meta-analysis combining the first and second stages identified an SNP, rs577948, at chromosome 11q24.1, which was associated with the disease (P = 2.22×10−7 and OR of 1.37 with 95% confidence interval: 1.21–1.54). Two genes, BLID and LOC399959, were identified within a 200-kb DNA encompassing rs577948. RT–PCR analysis demonstrated that both genes were expressed in human retinal tissue. Our results strongly suggest that the region at 11q24.1 is a novel susceptibility locus for pathological myopia in Japanese.
Dropout of the foveal photoreceptor inner and outer segment layers seen on spectral-domain optical coherence tomography imaging may be involved in incomplete recovery of visual acuity after successful retinal reattachment surgery.
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