{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T02:09:51Z","timestamp":1779329391004,"version":"3.51.4"},"reference-count":44,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"9","license":[{"start":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:00:00Z","timestamp":1758844800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Trans. Vis. Sci. Tech."],"published-print":{"date-parts":[[2025,9,26]]},"DOI":"10.1167\/tvst.14.9.37","type":"journal-article","created":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T12:31:01Z","timestamp":1758889861000},"page":"37","source":"Crossref","is-referenced-by-count":4,"title":["Associations Between Structural Phenotype and Polygenic Risk Scores in Intermediate Age-Related Macular Degeneration \u2013 A MACUSTAR Report"],"prefix":"10.1167","volume":"14","author":[{"given":"Lukas","family":"Schloesser","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University of Bonn, Bonn, Germany"},{"name":"Department of Ophthalmology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan H.","family":"Terheyden","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Behning","sequence":"additional","affiliation":[{"name":"Department of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah","family":"Klinkhammer","sequence":"additional","affiliation":[{"name":"Institute for Medical Biometry and Statistics, Medical Faculty, Phillips-University Marburg, Marburg, Germany"},{"name":"Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Garzone","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marlene","family":"Sa\u00dfmannshausen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Thiele","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Bonn, Bonn, Germany"},{"name":"Department of Ophthalmology, University Medical Center \u2013 Hamburg-Eppendorf, Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffen","family":"Schmitz-Valckenberg","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Bonn, Bonn, Germany"},{"name":"Department of Ophthalmology and Visual Sciences, John A. Moran Eye Center, University of Utah, Salt Lake City, UT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carel","family":"Hoyng","sequence":"additional","affiliation":[{"name":"RUMC Nijmegen, Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara I.","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Informatics Institute, University of Amsterdam, Amsterdam, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Schmid","sequence":"additional","affiliation":[{"name":"Department of Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrich F. O.","family":"Luhmann","sequence":"additional","affiliation":[{"name":"Roche Pharmaceutical Research and Early Development, Translational Medicine Ophthalmology, Roche Innovation Center, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather","family":"Floyd","sequence":"additional","affiliation":[{"name":"Novartis Pharma AG, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Leal","sequence":"additional","affiliation":[{"name":"Bayer Consumer Care AG, Basel, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank G.","family":"Holz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert P.","family":"Finger","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Bonn, Bonn, Germany"},{"name":"Department of Ophthalmology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"on behalf of the MACUSTAR Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27","reference":[{"issue":"5","key":"bib1","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1136\/bjophthalmol-2017-311258","article-title":"Prevalence and causes of vision loss in high-income countries and in Eastern and Central Europe in 2015: magnitude, temporal trends and projections","volume":"102","author":"Bourne","year":"2018","journal-title":"Br J Ophthalmol"},{"issue":"1","key":"bib2","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/s41572-021-00265-2","article-title":"Age-related macular degeneration","volume":"7","author":"Fleckenstein","year":"2021","journal-title":"Nat Rev Dis Primers"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1007\/978-3-030-66014-7","article-title":"Immunological aspects of age-related macular degeneration","volume":"1256","author":"Allingham","year":"2021","journal-title":"Adv Exp Med Biol"},{"issue":"3","key":"bib4","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1167\/iovs.04-1050","article-title":"Reduced foveolar choroidal blood flow in eyes with increasing AMD severity","volume":"46","author":"Grunwald","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"10","key":"bib5","doi-asserted-by":"publisher","first-page":"4481","DOI":"10.1167\/iovs.03-0436","article-title":"Drusen-associated degeneration in the retina","volume":"44","author":"Johnson","year":"2003","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"2","key":"bib6","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1016\/S0002-9440(10)65138-3","article-title":"Polarized vascular endothelial growth factor secretion by human retinal pigment epithelium and localization of vascular endothelial growth factor receptors on the inner choriocapillaris. Evidence for a trophic paracrine relation","volume":"155","author":"Blaauwgeers","year":"1999","journal-title":"Am J Pathol"},{"issue":"7","key":"bib7","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1001\/archopht.122.7.1013","article-title":"Monocyte activation in patients with age-related macular degeneration: a biomarker of risk for choroidal neovascularization?","volume":"122","author":"Cousins","year":"2004","journal-title":"Arch Ophthalmol"},{"issue":"4","key":"bib8","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1016\/j.ophtha.2012.10.036","article-title":"Clinical classification of age-related macular degeneration","volume":"120","author":"Ferris","year":"2013","journal-title":"Ophthalmology"},{"issue":"3","key":"bib9","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1001\/archopht.123.3.321","article-title":"The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences","volume":"123","author":"Seddon","year":"2005","journal-title":"Arch Ophthalmol"},{"issue":"12","key":"bib10","doi-asserted-by":"publisher","first-page":"1129","DOI":"10.1016\/j.oret.2020.04.014","article-title":"Genotype- and phenotype-based subgroups in geographic atrophy secondary to age-related macular degeneration: the EYE-RISK Consortium","volume":"4","author":"Biarn\u00e9s","year":"2020","journal-title":"Ophthalmol Retina"},{"issue":"12","key":"bib11","doi-asserted-by":"publisher","first-page":"1873","DOI":"10.1136\/bjo-2021-320469","article-title":"Prevalence and risk factors for age-related macular degeneration in a population-based cohort study of older adults in Northern Ireland using multimodal imaging: NICOLA study","volume":"107","author":"Hogg","year":"2023","journal-title":"Br J Ophthalmol"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1080\/02713683.2024.2388692","article-title":"Age-related macular degeneration and its genetic risk: a population-based study","volume":"50","author":"Garzone","year":"2025","journal-title":"Curr Eye Res"},{"issue":"3","key":"bib13","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1001\/jamaophthalmol.2021.6072","article-title":"Progression of age-related macular degeneration among individuals homozygous for risk alleles on chromosome 1 (CFH-CFHR5) or chromosome 10 (ARMS2\/HTRA1) or both","volume":"140","author":"Schmitz-Valckenberg","year":"2022","journal-title":"JAMA Ophthalmol"},{"issue":"7","key":"bib14","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1016\/j.ophtha.2022.02.026","article-title":"The phenotypic course of age-related macular degeneration for ARMS2\/HTRA1: the EYE-RISK Consortium","volume":"129","author":"Thee","year":"2022","journal-title":"Ophthalmology"},{"issue":"3","key":"bib15","doi-asserted-by":"publisher","first-page":"31","DOI":"10.3390\/jcm5030031","article-title":"The application of genetic risk scores in age-related macular degeneration: a review","volume":"5","author":"Cooke Bailey","year":"2016","journal-title":"J Clin Med"},{"issue":"1","key":"bib16","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.ophtha.2023.08.023","article-title":"Genome-wide meta-analysis identifies risk loci and improves disease prediction of age-related macular degeneration","volume":"131","author":"He","year":"2024","journal-title":"Ophthalmology"},{"issue":"7","key":"bib17","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1016\/j.ophtha.2020.11.024","article-title":"Genetic Risk, lifestyle, and age-related macular degeneration in Europe: the EYE-RISK Consortium","volume":"128","author":"Colijn","year":"2021","journal-title":"Ophthalmology"},{"issue":"8","key":"bib18","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1038\/s10038-020-0750-x","article-title":"Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration","volume":"65","author":"Han","year":"2020","journal-title":"J Hum Genet"},{"issue":"3","key":"bib19","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1167\/tvst.11.3.27","article-title":"Intersession repeatability of structural biomarkers in early and intermediate age-related macular degeneration: a MACUSTAR study report","volume":"11","author":"Sa\u00dfmannshausen","year":"2022","journal-title":"Transl Vis Sci Technol"},{"issue":"2","key":"bib20","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1159\/000491402","article-title":"MACUSTAR: Development and clinical validation of functional, structural, and patient-reported endpoints in intermediate age-related macular degeneration","volume":"241","author":"Finger","year":"2019","journal-title":"Ophthalmologica"},{"issue":"1","key":"bib21","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1186\/s13063-020-04595-6","article-title":"Clinical study protocol for a low-interventional study in intermediate age-related macular degeneration developing novel clinical endpoints for interventional clinical trials with a regulatory and patient access intention-MACUSTAR","volume":"21","author":"Terheyden","year":"2020","journal-title":"Trials"},{"issue":"5","key":"bib22","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1016\/j.oret.2022.12.007","article-title":"Characteristics and spatial distribution of structural features in age-related macular degeneration: a MACUSTAR study report","volume":"7","author":"Sa\u00dfmannshausen","year":"2023","journal-title":"Ophthalmol Retina"},{"issue":"3","key":"bib23","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1016\/j.ophtha.2019.09.035","article-title":"Incomplete retinal pigment epithelial and outer retinal atrophy in age-related macular degeneration: Classification of Atrophy Meeting Report 4","volume":"127","author":"Guymer","year":"2020","journal-title":"Ophthalmology"},{"issue":"4","key":"bib24","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/j.ophtha.2017.09.028","article-title":"Consensus definition for atrophy associated with age-related macular degeneration on OCT: Classification of Atrophy Report 3","volume":"125","author":"Sadda","year":"2018","journal-title":"Ophthalmology"},{"issue":"4","key":"bib25","doi-asserted-by":"publisher","first-page":"AMD1","DOI":"10.1167\/iovs.17-23315","article-title":"Multimodal imaging patterns for development of central atrophy secondary to age-related macular degeneration","volume":"59","author":"Thiele","year":"2018","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"9","key":"bib26","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1016\/j.oret.2020.12.009","article-title":"Imaging features associated with progression to geographic atrophy in age-related macular degeneration: Classification of Atrophy Meeting Report 5","volume":"5","author":"Jaffe","year":"2021","journal-title":"Ophthalmol Retina"},{"issue":"6","key":"bib27","first-page":"BIO211","article-title":"Activated retinal pigment epithelium, an optical coherence tomography biomarker for progression in age-related macular degeneration","volume":"58","author":"Curcio","year":"2017","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"9","key":"bib28","doi-asserted-by":"publisher","first-page":"1441","DOI":"10.1097\/IAE.0b013e3181ee5ce8","article-title":"Drusen characterization with multimodal imaging","volume":"30","author":"Spaide","year":"2010","journal-title":"Retina"},{"issue":"3","key":"bib29","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1097\/IAE.0b013e3181f04974","article-title":"Pathologic insights from integrated imaging of reticular pseudodrusen in age-related macular degeneration","volume":"31","author":"Querques","year":"2011","journal-title":"Retina"},{"issue":"4","key":"bib30","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/s41588-021-00783-5","article-title":"The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation","volume":"53","author":"Lambert","year":"2021","journal-title":"Nat Genet"},{"key":"bib31","article-title":"Pathway-specific polygenic risk scores correlate with clinical status and Alzheimer's-related biomarkers [published online ahead of print March 1, 2023]","author":"Schork","journal-title":"Res Sq [Preprint]"},{"issue":"4","key":"bib32","first-page":"433\u2013439, 9e1\u20132","article-title":"Seven new loci associated with age-related macular degeneration","volume":"45","author":"Fritsche","year":"2013","journal-title":"Nat Genet"},{"issue":"20","key":"bib33","doi-asserted-by":"publisher","first-page":"2336","DOI":"10.2174\/138161209788682352","article-title":"ADAM19\/adamalysin 19 structure, function, and role as a putative target in tumors and inflammatory diseases","volume":"15","author":"Qi","year":"2009","journal-title":"Curr Pharm Des"},{"issue":"6","key":"bib34","first-page":"391","article-title":"Matrix metalloproteinase-9: Many shades of function in cardiovascular disease","volume":"28","author":"Yabluchanskiy","year":"2013","journal-title":"Physiology (Bethesda)"},{"issue":"3","key":"bib35","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/eye.2016.207","article-title":"Clinical features and long-term progression of reticular pseudodrusen in age-related macular degeneration: findings from a multicenter cohort","volume":"31","author":"Gil","year":"2017","journal-title":"Eye"},{"issue":"6","key":"bib36","doi-asserted-by":"publisher","first-page":"2917","DOI":"10.1007\/s40123-023-00807-9","article-title":"Biomarkers for the progression of intermediate age-related macular degeneration","volume":"12","author":"Lad","year":"2023","journal-title":"Ophthalmol Ther"},{"issue":"13","key":"bib37","doi-asserted-by":"publisher","first-page":"5593","DOI":"10.1167\/iovs.15-18816","article-title":"Epidemiology of reticular pseudodrusen in age-related macular degeneration: the Rotterdam study","volume":"57","author":"Buitendijk","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"5","key":"bib38","doi-asserted-by":"publisher","first-page":"3250","DOI":"10.1167\/iovs.13-11923","article-title":"Localized reticular pseudodrusen and their topographic relation to choroidal watershed zones and changes in choroidal volumes","volume":"54","author":"Alten","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"9","key":"bib39","doi-asserted-by":"publisher","first-page":"1800","DOI":"10.1097\/IAE.0b013e31829c3765","article-title":"Outer retinal atrophy after regression of subretinal drusenoid deposits as a newly recognized form of late age-related macular degeneration","volume":"33","author":"Spaide","year":"2013","journal-title":"Retina"},{"issue":"4","key":"bib40","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.tig.2022.01.003","article-title":"Genetics of reticular pseudodrusen in age-related macular degeneration","volume":"38","author":"Farashi","year":"2022","journal-title":"Trends Genet"},{"issue":"11","key":"bib41","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1016\/j.oret.2021.07.006","article-title":"Cluster analysis and genotype-phenotype assessment of geographic atrophy in age-related macular degeneration: Age-Related Eye Disease Study 2 Report 25","volume":"5","author":"Keenan","year":"2021","journal-title":"Ophthalmol Retina"},{"issue":"12","key":"bib42","doi-asserted-by":"publisher","first-page":"1659","DOI":"10.1016\/j.ophtha.2019.07.022","article-title":"Prevalence, risk, and genetic association of reticular pseudodrusen in age-related macular degeneration: Age-Related Eye Disease Study 2 Report 21","volume":"126","author":"Domalpally","year":"2019","journal-title":"Ophthalmology"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"6096017","DOI":"10.1155\/2021\/6096017","article-title":"Significance of hyperreflective foci as an optical coherence tomography biomarker in retinal diseases: characterization and clinical implications","volume":"2021","author":"Fragiotta","year":"2021","journal-title":"J Ophthalmol"},{"issue":"9","key":"bib44","doi-asserted-by":"publisher","first-page":"2759","DOI":"10.1038\/s41596-020-0353-1","article-title":"Tutorial: a guide to performing polygenic risk score analyses","volume":"15","author":"Choi","year":"2020","journal-title":"Nat Protoc"}],"container-title":["Translational Vision Science & Technology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2810880","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T12:31:03Z","timestamp":1758889863000},"score":1,"resource":{"primary":{"URL":"https:\/\/tvst.arvojournals.org\/article.aspx?articleid=2810880"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,26]]},"references-count":44,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9,2]]}},"URL":"https:\/\/doi.org\/10.1167\/tvst.14.9.37","relation":{},"ISSN":["2164-2591"],"issn-type":[{"value":"2164-2591","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9,26]]}}}