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      Pachychoroid neovasculopathy and age-related macular degeneration

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          Abstract

          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.

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          Most cited references 34

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          A simplified severity scale for age-related macular degeneration: AREDS Report No. 18.

          To develop a simplified clinical scale defining risk categories for development of advanced age-related macular degeneration (AMD). Following development of a detailed scale for individual eyes based on gradings of fundus photographs in the Age-Related Eye Disease Study, rates of progression to advanced AMD were assessed in cross-tabulations of presence or absence in each eye of 2 easily identified retinal abnormalities, drusen and pigment abnormalities. Large drusen and any pigment changes were particularly predictive of developing advanced AMD. The scoring system developed for patients assigns to each eye 1 risk factor for the presence of 1 or more large (> or = 125 microm, width of a large vein at disc margin) drusen and 1 risk factor for the presence of any pigment abnormality. Risk factors are summed across both eyes, yielding a 5-step scale (0-4) on which the approximate 5-year risk of developing advanced AMD in at least one eye increases in this easily remembered sequence: 0 factors, 0.5%; 1 factor, 3%; 2 factors, 12%; 3 factors, 25%; and 4 factors, 50%. For persons with no large drusen, presence of intermediate drusen in both eyes is counted as 1 risk factor. This simplified scale provides convenient risk categories for development of advanced AMD that can be determined by clinical examination or by less demanding photographic procedures than used in the Age-Related Eye Disease Study.
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            Choroidal thickness in polypoidal choroidal vasculopathy and exudative age-related macular degeneration.

            To compare choroidal thickness between eyes with polypoidal choroidal vasculopathy (PCV) and eyes with age-related macular degeneration (AMD). Observational, comparative case series. Twenty-five eyes with PCV, 14 uninvolved fellow eyes with PCV, 30 eyes with exudative AMD, 17 eyes with early AMD, and 20 eyes of age-matched normal subjects. Choroidal thickness was measured using enhanced-depth imaging optical coherence tomography. Subfoveal choroidal thickness in each eye was analyzed by measurement of the vertical distance from the Bruch's membrane to the innermost scleral layer. Nasal, superior, temporal, and inferior choroidal thicknesses, 1500 μm apart from the foveal center, were also evaluated in all eyes. Choroidal thickness in each group. Mean (± standard deviation) subfoveal choroidal thickness in eyes with PCV and in their uninvolved fellow eyes was 438.3±87.8 μm and 372.9±112.0 μm, respectively, which was significantly greater than in eyes of age-matched normal subjects (224.8±52.9 μm) (P<0.001 and P = 0.003, respectively). Subfoveal choroidal thickness of eyes with exudative AMD (171.2±38.5 μm) and eyes with early AMD (177.4±49.7 μm) was thinner than that of age-matched normal subjects (P = 0.004 and P = 0.078, respectively). Choroidal thickness at each of the other 4 points showed a similar tendency. This study demonstrates thickening of choroid in the eyes with PCV, in contrast with choroidal thinning observed in eyes with AMD. These findings suggest involvement of different pathogenic mechanisms in PCV from those in exudative AMD. Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
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              Pachychoroid pigment epitheliopathy.

              To report nine cases of pachychoroid pigment epitheliopathy. An observational case series of nine patients who underwent comprehensive ophthalmic examination, fundus photography, fundus autofluorescence, spectral-domain optical coherence tomography, and enhanced depth imaging optical coherence tomography. Eighteen eyes of 9 patients, aged 27 years to 89 years, were diagnosed with pachychoroid pigment epitheliopathy based on the characteristic funduscopic appearance of reduced fundus tessellation with overlying retinal pigment epithelial changes in one or both eyes, fundus autofluorescence abnormalities, and increased subfoveal choroidal thickness confirmed by enhanced depth imaging optical coherence tomography (mean, 460.2 μm). The five older patients had been previously diagnosed with age-related macular degeneration, while the four younger subjects were referred for possible inflammatory chorioretinitis, pattern dystrophy, or nonspecific drusen. No subjects had a history of or subsequently developed subretinal fluid. Pachychoroid pigment epitheliopathy falls within a spectrum of diseases associated with choroidal thickening that includes central serous chorioretinopathy and polypoidal choroidal vasculopathy, and it should be suspected in eyes with a characteristic fundus appearance related to choroidal thickening and associated retinal pigment epithelial abnormalities but no history of subretinal fluid. Enhanced depth imaging optical coherence tomography confirming an abnormally thick choroid and characteristic retinal pigment epithelial changes on fundus autofluorescence support the diagnosis. Because these patients are frequently misdiagnosed, the recognition of pachychoroid pigment epitheliopathy may avoid unnecessary diagnostic testing and interventions.
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                Author and article information

                Journal
                Sci Rep
                Sci Rep
                Scientific Reports
                Nature Publishing Group
                2045-2322
                06 November 2015
                2015
                : 5
                Affiliations
                [1 ]Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine , Kyoto, Japan
                [2 ]Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School of Medicine , Kyoto, Japan
                [3 ]Department of Ophthalmology, Kagawa University , Kagawa, Japan
                Author notes
                Article
                srep16204
                10.1038/srep16204
                4635432
                26542071
                Copyright © 2015, Macmillan Publishers Limited

                This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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