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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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2018-05-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-018-25003-9 |
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English |
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Article |
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DOAJ |
| 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 |
| spellingShingle |
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 Scientific Reports |
| 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 Publishing Group |
| series |
Scientific Reports |
| issn |
2045-2322 |
| publishDate |
2018-05-01 |
| 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. |
| url |
https://doi.org/10.1038/s41598-018-25003-9 |
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doaj-e8ec2bea4eac47d3b9bdcfc857fd9ebd2020-12-08T06:23:45ZengNature Publishing GroupScientific Reports2045-23222018-05-018111010.1038/s41598-018-25003-9Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patientsAymeric Douillard0Marie-Christine Picot1Cécile Delcourt2Sabine Defoort-Dhellemmes3Nour Al-Dain Marzouka4Annie Lacroux5Xavier Zanlonghi6Isabelle Drumare7Elsa Jozefowicz8Béatrice Bocquet9Corinne Baudoin10Sarah Perez-Roustit11Sophie Arsène12Valérie Gissot13François Devin14Carl Arndt15Benjamin Wolff16Martine Mauget-Faÿsse17Maddalena Quaranta18Thibault Mura19Dominique Deplanque20Hassiba Oubraham21Salomon Yves Cohen22Pierre Gastaud23Olivia Zambrowski24Catherine Creuzot-Garcher25Saddek Mohand Saïd26José-Alain Sahel27Eric Souied28Solange Milazzo29Rocio Blanco Garavito30Vasiliki Kalatzis31Bernard Puech32Christian Hamel33Isabelle Audo34Isabelle Meunier35CHRU Montpellier, Clinical Investigation Center (CIC) & Clinical Research and Epidemiology Unit (URCE)CHRU Montpellier, Clinical Investigation Center (CIC) & Clinical Research and Epidemiology Unit (URCE)University of Bordeaux, ISPEDService d’Exploration de la Vision et Neuro-ophtalmologie, Hôpital Robert SalengroCentre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Eye Clinic Sourdille Jules VerneService d’Exploration de la Vision et Neuro-ophtalmologie, Hôpital Robert SalengroUniversity Lille, Inserm, CHU Lille, CIC 1403 – Centre d’investigation cliniqueCentre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Eye Clinic, Hôpital de Tours, CHRU de ToursInserm 1415, Centre d’investigation clinique, CHRU de ToursEye Clinic, Centre Paradis, MonticelliEye Clinic, Hôpital Robert DebréEye Clinic, Maison RougeFondation Adolphe de Rothschild, 25 rue ManinCentre Ophtalmologique RabelaisCHRU Montpellier, Clinical Investigation Center (CIC) & Clinical Research and Epidemiology Unit (URCE)University Lille, Inserm, CHU Lille, CIC 1403 – Centre d’investigation cliniqueEye Clinic, Hôpital IntercommunalEye Clinic, Hôpital IntercommunalEye Clinic, Hôpital Saint Roch, CHU de NiceEye Clinic, Hôpital IntercommunalEye Clinic, Hôpital Universitaire de Dijon and Eye nutrition and signaling group, INRASorbonne Université, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, 17 rue MoreauFondation Adolphe de Rothschild, 25 rue ManinEye Clinic, Hôpital IntercommunalDepartment of Ophtalmology, Amiens University HospitalEye Clinic, Hôpital IntercommunalCentre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Service d’Exploration de la Vision et Neuro-ophtalmologie, Hôpital Robert SalengroCentre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Sorbonne Université, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, 17 rue MoreauCentre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051Abstract 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.https://doi.org/10.1038/s41598-018-25003-9 |