110 research outputs found

    Association between the SERPING1 Gene and Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Japanese

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    PURPOSE: Recently, a complement component 1 inhibitor (SERPING1) gene polymorphism was identified as a novel risk factor for age-related macular degeneration (AMD) in Caucasians. We aimed to investigate whether variations in SERPING1 are associated with typical AMD or with polypoidal choroidal vasculopathy (PCV) in a Japanese population. METHODS: We performed a case-control study in a group of Japanese patients with typical AMD (n = 401) or PCV (n = 510) and in 2 independent control groups--336 cataract patients without age-related maculopathy and 1,194 healthy Japanese individuals. Differences in the observed genotypic distribution between the case and control groups were tested using chi-square test for trend. Age and gender were adjusted using logistic regression analysis. RESULTS: We targeted rs2511989 as the haplotype-tagging single nucleotide polymorphism (SNP) for the SERPING1 gene, which was reported to be associated with the risk of AMD in Caucasians. Although we compared the genotypic distributions of rs2511989 in typical AMD and PCV patients against 2 independent control groups (cataract patients and healthy Japanese individuals), SERPING1 rs2511989 was not significantly associated with typical AMD (P = 0.932 and 0.513, respectively) or PCV (P = 0.505 and 0.141, respectively). After correction for age and gender differences based on a logistic regression model, the difference in genotypic distributions remained insignificant (P>0.05). Our sample size had a statistical power of more than 90% to detect an association of a risk allele with an odds ratio reported in the original studies for rs2511989 for developing AMD. CONCLUSIONS: In the present study, we could not replicate the reported association between SERPING1 and either neovascular AMD or PCV in a Japanese population; thus, the results suggest that SERPING1 does not play a significant role in the risk of developing AMD or PCV in Japanese

    Spectral domain optical coherence tomography in patients after successful management of postoperative endophthalmitis following cataract surgery by pars plana vitrectomy.

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    BACKGROUND: Acute severe postoperative endophthalmitis may lead to severe vision loss. The aim of this study was the analysis of macular microstructure imaged by spectral domain optical coherence tomography in patients after pars plana vitrectomy due to postcataract endophthalmitis. METHODS: A cross sectional study was carried out in 17 patients who had cataract surgery in both eyes and underwent unilateral pars plana vitrectomy due to postcataract endophthalmitis. Postoperative best corrected visual acuity was determined in both eyes. Evaluation of macular thickness, macular volume, peripapillary retinal nerve fiber layer thickness and choroidal thickness using enhanced depth imaging technique was performed by spectral domain optical coherence tomography. The measurements obtained in the operated eye were compared to the fellow eye by Wilcoxon matched pair test. Correlation test was performed by Spearman rank order. RESULTS: A mean postoperative best corrected visual acuity of 63 +/- 30 ETDRS letters versus 75 +/- 21 letters was achieved in the study and fellow eyes, respectively, after a mean of 5.3 +/- 4.5 months (p = 0.1). The mean macular thickness was 320.6 +/- 28.8 mum SD in the study eyes compared to 318.4 +/- 18.8 mum in the fellow eyes (p = 0.767). No differences were noted in macular volume (p = 0.97) and in peripapillary retinal nerve fiber layer thickness (p = 0.31). Choroidal thickness was significantly lower in the study eyes compared to the fellow eyes (p = 0.018). Epiretinal membrane was found in 7 eyes after endophthalmitis, while in the fellow eyes only in 3 cases (p = 0.13, Fisher's exact test). CONCLUSION: Choroidal thickness decreased significantly after endophthalmitis, but there was no functional correlation with the changes in choroidal microstructure. The development of epiretinal membranes may be associated with either vitrectomy or endophthalmitis in the history. Absence of other significant structural and morphological findings shows that successful treatment may guarantee good clinical results even in long term after this severe postoperative complication

    Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population

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    Age-related macular degeneration (AMD) is a common cause of blindness in the elderly. Caucasian patients are predominantly affected by the dry form of AMD, whereas Japanese patients have predominantly the wet form of AMD and/or polypoidal choroidal vasculopathy (PCV). Although genetic association in the 10q26 (ARMS2/HTRA1) region has been established in many ethnic groups for dry-type AMD, typical wet-type AMD, and PCV, the contribution of the 1q32 (CFH) region seem to differ among these groups. Here we show a single nucleotide polymorphism (SNP) in the ARMS2/HTRA1 locus is associated in the whole genome for Japanese typical wet-type AMD (rs10490924: \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}p=4.1×104 p = 4.1 \times 10 ^{ - 4}\end{document}, OR = 4.16) and PCV (rs10490924: \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}p=3.7×108 p = 3.7 \times 10 ^{ -8}\end{document}, OR = 2.72) followed by CFH (rs800292: \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}p=7.4×105 p = 7.4 \times 10 ^{ -5}\end{document}, OR = 2.08; \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}p=2.6×104 p = 2.6 \times {10^{ - 4}} \end{document}, OR = 2.00), which differs from previous studies in Caucasian populations. Moreover, a SNP (rs2241394) in complement component C3 gene showed significant association with PCV (\documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}p=2.5×103 p = 2.5 \times {10^{ - 3}} \end{document}, OR = 3.47). We conclude that dry-type AMD, typical wet-type AMD, and PCV have both common and distinct genetic risks that become apparent when comparing Japanese versus Caucasian populations

    Choroidal atrophy in a patient with paraneoplastic retinopathy and anti-TRPM1 antibody

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    Shinji Ueno,1 Yasuki Ito,1 Ruka Maruko,1 Mineo Kondo,2 Hiroko Terasaki1 1Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, 2Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan Abstract: The purpose of this paper is to report choroidal atrophy in a patient with cancer-associated retinopathy who had autoantibodies against the transient receptor potential cation channel, subfamily M, member 1 (TRPM1). A 69-year-old man visited our clinic in July 2010 with complaints of blurred vision and night blindness in both eyes. The full-field electroretinograms were negative type, indicating ON bipolar cell dysfunction. General physical examination revealed small cell carcinoma of the lung, and Western blot of the patient's serum showed autoantibodies against TRPM1. We diagnosed this patient with cancer-associated retinopathy and retinal ON bipolar dysfunction due to anti-TRPM1 autoantibody. We followed him for more than 2 years from the initial visit and his symptoms have not changed. However, consistent with the choroidal hypopigmentation of the fundus, spectral domain optical coherence tomography showed a decrease in choroidal thickness of about one third over a 2-year follow-up period. We suggest that this case of gradually progressive choroidal atrophy was caused by the autoantibody against TRPM1 directly, because TRPM1 is expressed not only on ON bipolar cells but also on melanocytes. These findings indicate that we should be aware of choroidal thickness in patients with paraneoplastic retinopathy who have retinal ON bipolar dysfunction with the anti-TRPM1 antibody. Keywords: choroidal thickness, melanocyte, TRPM1, cancer-associated retinopathy, paraneoplastic retinopath

    Enhanced depth imaging optical coherence tomography of the sclera in dome-shaped macula

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    PURPOSE: To examine the posterior anatomic structure of eyes with dome-shaped macula using enhanced depth imaging spectral-domain optical coherence tomography (EDI-OCT). DESIGN: Retrospective observational case series. METHODS: Patients with dome-shaped macula, a condition defined as convex elevation of the macula as compared with the surrounding staphylomatous region in a highly myopic eye, were identified through routine examinations using optical coherence tomography (OCT). EDI-OCT was used to examine their posterior anatomic changes. The scleral thickness was measured from the outer border of the choroid to the outer scleral border under the fovea and 3000 μm temporal to the fovea. RESULTS: The mean age of the 15 patients (23 eyes) was 59.3 (± 12.2) years, and the mean refractive error was -13.6 (± 5.0) diopters. The best-corrected visual acuity ranged from 20/15 to 20/800 (median: 20/30). Eight patients (53%) had dome-shaped macula bilaterally. The mean subfoveal scleral thickness in 23 eyes with dome-shaped macula was 570 (± 221) μm, and that in 25 eyes of 15 myopic patients with staphyloma but without dome-shaped macula was 281 (± 85) μm (P < .001) even though both groups had similar myopic refractive error. The scleral thickness 3000 μm temporal to the fovea was not different in the 2 groups. CONCLUSIONS: Dome-shaped macula is the result of a relative localized thickness variation of the sclera under the macula in highly myopic patients, and it cannot be categorized into any of the known types of staphyloma. This finding suggests the ocular expansion in myopia may be more complex than previously thought. Copyright © 2011 Elsevier Inc. All rights reserved
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