Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
Abstract EMAP (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...
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2018
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oai:doaj.org-article:e8ec2bea4eac47d3b9bdcfc857fd9ebd2021-12-02T11:41:25ZDietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients10.1038/s41598-018-25003-92045-2322https://doaj.org/article/e8ec2bea4eac47d3b9bdcfc857fd9ebd2018-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-25003-9https://doaj.org/toc/2045-2322Abstract EMAP (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 2.95/1.106) was lower in Provence-Côte d’Azur with a Mediterranean diet (1.9/1.106), and higher in regions with intensive farming or industrialized activities (5 to 20/1.106). 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.Aymeric DouillardMarie-Christine PicotCécile DelcourtSabine Defoort-DhellemmesNour Al-Dain MarzoukaAnnie LacrouxXavier ZanlonghiIsabelle DrumareElsa JozefowiczBéatrice BocquetCorinne BaudoinSarah Perez-RoustitSophie ArsèneValérie GissotFrançois DevinCarl ArndtBenjamin WolffMartine Mauget-FaÿsseMaddalena QuarantaThibault MuraDominique DeplanqueHassiba OubrahamSalomon Yves CohenPierre GastaudOlivia ZambrowskiCatherine Creuzot-GarcherSaddek Mohand SaïdJosé-Alain SahelEric SouiedSolange MilazzoRocio Blanco GaravitoVasiliki KalatzisBernard PuechChristian HamelIsabelle AudoIsabelle MeunierNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-10 (2018) |
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Medicine R Science Q Aymeric Douillard Marie-Christine Picot Cécile Delcourt Sabine Defoort-Dhellemmes Nour Al-Dain Marzouka Annie Lacroux Xavier Zanlonghi Isabelle Drumare Elsa Jozefowicz Béatrice Bocquet Corinne Baudoin Sarah Perez-Roustit Sophie Arsène Valérie Gissot François Devin Carl Arndt Benjamin Wolff Martine Mauget-Faÿsse Maddalena Quaranta Thibault Mura Dominique Deplanque Hassiba Oubraham Salomon Yves Cohen Pierre Gastaud Olivia Zambrowski Catherine Creuzot-Garcher Saddek Mohand Saïd José-Alain Sahel Eric Souied Solange Milazzo Rocio Blanco Garavito Vasiliki Kalatzis Bernard Puech Christian Hamel Isabelle Audo Isabelle Meunier Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients |
| description |
Abstract EMAP (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 2.95/1.106) was lower in Provence-Côte d’Azur with a Mediterranean diet (1.9/1.106), and higher in regions with intensive farming or industrialized activities (5 to 20/1.106). 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. |
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article |
| author |
Aymeric Douillard Marie-Christine Picot Cécile Delcourt Sabine Defoort-Dhellemmes Nour Al-Dain Marzouka Annie Lacroux Xavier Zanlonghi Isabelle Drumare Elsa Jozefowicz Béatrice Bocquet Corinne Baudoin Sarah Perez-Roustit Sophie Arsène Valérie Gissot François Devin Carl Arndt Benjamin Wolff Martine Mauget-Faÿsse Maddalena Quaranta Thibault Mura Dominique Deplanque Hassiba Oubraham Salomon Yves Cohen Pierre Gastaud Olivia Zambrowski Catherine Creuzot-Garcher Saddek Mohand Saïd José-Alain Sahel Eric Souied Solange Milazzo Rocio Blanco Garavito Vasiliki Kalatzis Bernard Puech Christian Hamel Isabelle Audo Isabelle Meunier |
| author_facet |
Aymeric Douillard Marie-Christine Picot Cécile Delcourt Sabine Defoort-Dhellemmes Nour Al-Dain Marzouka Annie Lacroux Xavier Zanlonghi Isabelle Drumare Elsa Jozefowicz Béatrice Bocquet Corinne Baudoin Sarah Perez-Roustit Sophie Arsène Valérie Gissot François Devin Carl Arndt Benjamin Wolff Martine Mauget-Faÿsse Maddalena Quaranta Thibault Mura Dominique Deplanque Hassiba Oubraham Salomon Yves Cohen Pierre Gastaud Olivia Zambrowski Catherine Creuzot-Garcher Saddek Mohand Saïd José-Alain Sahel Eric Souied Solange Milazzo Rocio Blanco Garavito Vasiliki Kalatzis Bernard Puech Christian Hamel Isabelle Audo Isabelle Meunier |
| author_sort |
Aymeric Douillard |
| title |
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients |
| title_short |
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients |
| title_full |
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients |
| title_fullStr |
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients |
| title_full_unstemmed |
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients |
| title_sort |
dietary, environmental, and genetic risk factors of extensive macular atrophy with pseudodrusen, a severe bilateral macular atrophy of middle-aged patients |
| publisher |
Nature Portfolio |
| publishDate |
2018 |
| url |
https://doaj.org/article/e8ec2bea4eac47d3b9bdcfc857fd9ebd |
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