Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning introns 1 and 2 of LOXL1 with enhancer-like chromatin features. We find that the rs11638944:C>G transversion exerts a cis-acting effect on the expression levels of LOXL1, mediated by differential binding of the transcription factor RXRα (retinoid X receptor alpha) and by modulating alternative splicing of LOXL1, eventually leading to reduced levels of LOXL1 mRNA in cells and tissues of risk allele carriers. These findings uncover a functional mechanism by which common noncoding variants influence LOXL1 expression.
We review articles describing intravitreal injection of anti-VEGF drug trials, while discussing the mechanisms of the action of anti-VEGF antibodies, and also evaluating their outcomes. Intraocular injections of anti-VEGF drug are considered to be an effective treatment for macular edema after retinal vein occlusion, however, recurrent/persistent edema is common. The recent reports may lead to a shift in treatment paradigm for DME, from laser photocoagulation, to newer approaches using anti-VEGF drugs. There have been several well-publicized prospective, randomized studies that demonstrated the efficacy of intravitreal injection of anti-VEGF drugs for patients with AMD. Adjuvant bevacizumab for neovascular glaucoma may prevent further PAS formation, and it is likely to open up a therapeutic window for a panretinal photocoagulation and trabeculectomy. Intravitreal injection of bevacizumab (IVB) results in a substantial decrease in bleeding from the retinal vessels or new vessels during a standard vitrectomy. IVB has also been reported to be effective for inducing the regression of new vessels in proliferative diabetic retinopathy. The use of bevacizumab in stage 4 or 5 retinopahty of permaturity (ROP) is to reduce the plus sign to help reduce hemorrhage during the subsequent vitrectomy. Some authors reported cases of resolution of stage 4 A ROP after bevacizumab injection.
To evaluate the results and complications of combined pars plana vitrectomy (PPV), phacoemulsification and aspiration (PEA), and intraocular lens (IOL) implantation.A total of 117 eyes from 114 patients who had undergone PPV combined with PEA and IOL implantation were retrospectively analyzed. Combined surgery was performed for a wide variety of vitreoretinal diseases. Intraoperative and postoperative complications were also reviewed.The postoperative BCVA improved by 2 lines or more in 85 eyes (72.6%). Intraoperative complications consisted of retinal tears in 14 eyes (12.0%) and posterior capsular rupture in 2 eyes (1.7%). Iatrogenic retinal tears occurred more frequently in eyes with a macular hole than in eyes with any other disease (p=0.005, chi-square test). Postoperative complications consisted of posterior capsule opacification (PCO) (21 eyes), transient IOP elevation (29 eyes), vitreous hemorrhage (6 eyes), anterior chamber fibrin exudation (11 eyes), posterior iris synechia (8 eyes), neovascular glaucoma (1 eye), and recurrent retinal detachment (RD) (2 eyes). Fibrin exudation occurred more frequently in eyes with proliferative diabetic retinopathy (PDR) and RD than in eyes with any other disease (p=0.03, chi-square test). PCO occurred more frequently in eyes with PDR than in eyes with any other disease (p=0.03, chi-square test).The present study suggests that a high success rate can be achieved when recently improved PPV techniques are combined with PEA and IOL implantation. The complications that were observed following this combined treatment varied with respect to the vitreoretinal disease present prior to surgery.
Purpose: To evaluate 1-year outcomes of intravitreal injections of aflibercept (IVA) in Japanese polypoidal choroidal vasculopathy (PCV) patients. Methods: In this prospective, open-label, single-arm multicenter clinical trial, treatment-naïve PCV patients received IVA (2.0 mg) every 2 months, after 3 initial monthly doses. The primary endpoint assessed was the proportion of patients maintaining baseline best-corrected visual acuity (BCVA) at 1 year. Results: Fifty eyes with PCV were included in the study. BCVA was maintained or improved in 97.6% of the patients. Mean logMAR BCVA at baseline was 0.33, and had improved to 0.12 logMAR 1 year after the initiation of aflibercept treatment (p < 0.001). Mean central foveal thickness decreased from 356 to 239 μm (p < 0.001). Complete regression of polypoidal lesions was seen in 72.5% after 1 year of treatment. Conclusions: One year of IVA resulted in stabilization of BCVA and anatomical improvement in Japanese PCV patients.