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Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients

dc.rights.licenseopenen_US
dc.contributor.authorDOUILLARD, A.
dc.contributor.authorPICOT, M. C.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDELCOURT, Cécile
dc.contributor.authorDEFOORT-DHELLEMMES, S.
dc.contributor.authorMARZOUKA, N. A.
dc.contributor.authorLACROUX, A.
dc.contributor.authorZANLONGHI, X.
dc.contributor.authorDRUMARE, I.
dc.contributor.authorJOZEFOWICZ, E.
dc.contributor.authorBOCQUET, B.
dc.contributor.authorBAUDOIN, C.
dc.contributor.authorPEREZ-ROUSTIT, S.
dc.contributor.authorARSENE, S.
dc.contributor.authorGISSOT, V.
dc.contributor.authorDEVIN, F.
dc.contributor.authorARNDT, C.
dc.contributor.authorWOLFF, B.
dc.contributor.authorMAUGET-FAYSSE, M.
dc.contributor.authorQUARANTA, M.
dc.contributor.authorMURA, T.
dc.contributor.authorDEPLANQUE, D.
dc.contributor.authorOUBRAHAM, H.
dc.contributor.authorCOHEN, S. Y.
dc.contributor.authorGASTAUD, P.
dc.contributor.authorZAMBROWSKI, O.
dc.contributor.authorCREUZOT-GARCHER, C.
dc.contributor.authorSAID, S. M.
dc.contributor.authorSAHEL, J. A.
dc.contributor.authorSOUIED, E.
dc.contributor.authorMILAZZO, S.
dc.contributor.authorGARAVITO, R. B.
dc.contributor.authorKALATZIS, V.
dc.contributor.authorPUECH, B.
dc.contributor.authorHAMEL, C.
dc.contributor.authorAUDO, I.
dc.contributor.authorMEUNIER, I.
dc.date.accessioned2020-11-03T15:33:06Z
dc.date.available2020-11-03T15:33:06Z
dc.date.issued2018-05-01
dc.identifier.issn2045-2322en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/11611
dc.description.abstractEnEMAP (Extensive Macular Atrophy with Pseudodrusen) is a maculopathy we recently described that shares pseudodrusen and geographic atrophy with Age-related Macular Disease (AMD). EMAP differs from AMD by an earlier age of onset (50-55 years) and a characteristic natural history comprising a night blindness followed by a severe visual loss. In a prospective case-control study, ten referral centers included 115 EMAP (70 women, 45 men) patients and 345 matched controls to appraise dietary, environmental, and genetic risk factors. The incidence of EMAP (mean 2.95/1.10(6)) was lower in Provence-Cote d'Azur with a Mediterranean diet (1.9/1.10(6)), and higher in regions with intensive farming or industrialized activities (5 to 20/1.10(6)). EMAP patients reported toxic exposure during professional activities (OR 2.29). The frequencies of common AMD complement factor risk alleles were comparable in EMAP. By contrast, only one EMAP patient had a rare AMD variant. This study suggests that EMAP could be a neurodegenerative disorder caused by lifelong toxic exposure and that it is associated with a chronic inflammation and abnormal complement pathway regulation. This leads to diffuse subretinal deposits with rod dysfunction and cone apoptosis around the age of 50 with characteristic extensive macular atrophy and paving stones in the far peripheral retina.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enLEHA
dc.title.enDietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
dc.title.alternativeSci Repen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41598-018-25003-9en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed29717154en_US
bordeaux.journalScientific Reportsen_US
bordeaux.page6840en_US
bordeaux.volume8en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamLEHA_BPH
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.exportfalse
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Scientific%20Reports&rft.date=2018-05-01&rft.volume=8&rft.issue=1&rft.spage=6840&rft.epage=6840&rft.eissn=2045-2322&rft.issn=2045-2322&rft.au=DOUILLARD,%20A.&PICOT,%20M.%20C.&DELCOURT,%20C%C3%A9cile&DEFOORT-DHELLEMMES,%20S.&MARZOUKA,%20N.%20A.&rft.genre=article


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