Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
| Autor: | Carl Arndt, Elsa Jozefowicz, Saddek Mohand Said, Béatrice Bocquet, Benjamin Wolff, Eric H Souied, Christian P. Hamel, Cécile Delcourt, F. Devin, Bernard Puech, M. Quaranta, Isabelle Meunier, Thibault Mura, Marie-Christine Picot, Xavier Zanlonghi, Catherine Creuzot-Garcher, José-Alain Sahel, Dominique Deplanque, Solange Milazzo, Olivia Zambrowski, Isabelle Audo, Vasiliki Kalatzis, Nour Al Dain Marzouka, Rocio Blanco Garavito, Sophie Arsène, Hassiba Oubraham, Corinne Baudoin, Pierre Gastaud, Sabine Defoort-Dhellemmes, Sarah Perez-Roustit, Annie Lacroux, Aymeric Douillard, Isabelle Drumare, Martine Mauget-Faÿsse, Valérie Gissot, Salomon Y. Cohen |
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| Přispěvatelé: | CIC Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre de référence des affections sensorielles d'origine génétique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Lille, Centre Hospitalier Universitaire de Reims (CHU Reims), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Centre d'Investigation Clinique - Innovation Technologique de Lille - CIC 1403 - CIC 9301 (CIC Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHI Créteil, Service d'Ophtalmologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Intercommunal de Créteil (CHIC), CHU Amiens-Picardie, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), The French Ministry of Health., Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui De Chaulliac, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Meunier, Isabelle |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male Organes des sens genetic structures Mediterranean Diet Mediterranean 0302 clinical medicine Risk Factors Prospective Studies Prospective cohort study Multidisciplinary Incidence (epidemiology) Environmental exposure Middle Aged macular degeneration retinal diseases 3. Good health Medicine Female France Adult medicine.medical_specialty Science Sensory Organs Médecine humaine et pathologie Retinal Drusen Article 03 medical and health sciences Complement pathway regulation Internal medicine Geographic Atrophy medicine Humans Genetic Predisposition to Disease [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs Retrospective Studies Aged [SDV.EE.SANT]Life Sciences [q-bio]/Ecology environment/Health business.industry Case-control study Retrospective cohort study dégénérescence maculaire Feeding Behavior Environmental Exposure medicine.disease eye diseases Diet 030104 developmental biology Case-Control Studies 030221 ophthalmology & optometry Maculopathy Human health and pathology degénération rétinienne [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie sense organs Age of onset business |
| Zdroj: | Scientific Reports Scientific Reports, 2018, 8 (1), pp.6840. ⟨10.1038/s41598-018-25003-9⟩ www.nature.com/scientificreports/ Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.6840. ⟨10.1038/s41598-018-25003-9⟩ Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018) Scientific Reports 1 (8), 6840. (2018) |
| ISSN: | 2045-2322 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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