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Journal articles
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
Aymeric Douillard
1
Marie-Christine Picot
1
Cécile Delcourt
2
Sabine Defoort-Dhellemmes
3
Nour Al-Dain Marzouka
4, 5
Annie Lacroux
4, 5
Xavier Zanlonghi
Isabelle Drumare
3
Elsa Jozefowicz
3, 6
Béatrice Bocquet
4, 5
Corinne Baudoin
4, 5
Sarah Perez-Roustit
4, 5
Sophie Arsène
Valérie Gissot
François Devin
Carl Arndt
7
Benjamin Wolff
Martine Mauget-Faÿsse
8
Maddalena Quaranta
Thibault Mura
1
Dominique Deplanque
9
Hassiba Oubraham
Salomon Yves Cohen
10
Pierre Gastaud
Olivia Zambrowski
Catherine Creuzot-Garcher
11
Saddek Mohand Saïd
12
José-Alain Sahel
12
Eric Souied
13
Solange Milazzo
14
Rocio Blanco Garavito
Vasiliki Kalatzis
4, 5
Bernard Puech
3
Christian Hamel
4, 5
Isabelle Audo
12, 15
Isabelle Meunier
4, 5
10
CHI Créteil
Aymeric Douillard 1
Author
Marie-Christine Picot 1
Author
Cécile Delcourt 2
Author
Sabine Defoort-Dhellemmes 3
Author
Nour Al-Dain Marzouka 4, 5
Author
Annie Lacroux 4, 5
Author
Xavier Zanlonghi
Author
Isabelle Drumare 3
Author
Elsa Jozefowicz 3, 6
Author
Béatrice Bocquet 4, 5
Author
Corinne Baudoin 4, 5
Author
Sarah Perez-Roustit 4, 5
Author
Benjamin Wolff
Author
Martine Mauget-Faÿsse 8
Author
Maddalena Quaranta
Author
Thibault Mura 1
Author
Dominique Deplanque 9
Author
Hassiba Oubraham
Author
Salomon Yves Cohen 10
Author
Pierre Gastaud
Author
Olivia Zambrowski
Author
Catherine Creuzot-Garcher 11
Author
Saddek Mohand Saïd 12
Author
José-Alain Sahel 12
Author
Eric Souied 13
Author
Solange Milazzo 14
Author
Rocio Blanco Garavito
Author
Vasiliki Kalatzis 4, 5
Author
Bernard Puech 3
Author
Christian Hamel 4, 5
Author
Isabelle Audo 12, 15
Author
Isabelle Meunier 4, 5
Author
1
CIC Montpellier (80 Avenue Augustin Fliche 34295 Montpellier Cedex 5 - France)
- CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier] (191 avenue du doyen Gaston Giraud 34295 Montpellier cedex 5 - France)
- CHU Saint-Eloi (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : CIC1411 (101, rue de Tolbiac, 75013 Paris - France)
2
BPH - Bordeaux population health (Université de Bordeaux - Case 11 - 146 rue Léo Saignat 33076 Bordeaux cedex - France)
- UB - Université de Bordeaux (35, place Pey Berland - 33076 Bordeaux - France)
- Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED) (France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U1219 (101, rue de Tolbiac, 75013 Paris - France)
3
CHRU Lille - Centre Hospitalier Régional Universitaire [Lille] (2, avenue Oscar Lambret - 59037 Lille Cedex - France)
4
INM - Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (Hôpital Saint Eloi - Bâtiment INM - 80, rue Augustin Fliche - BP 74103 - 34091 Montpellier cedex 5 - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U 1051 (101, rue de Tolbiac, 75013 Paris - France)
- UM - Université de Montpellier (163 rue Auguste Broussonnet - 34090 Montpellier - France)
5
Centre de référence des affections sensorielles d'origine génétique (80 rue Auguste Fliche, 34295 Montpellier - France)
- CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier] (191 avenue du doyen Gaston Giraud 34295 Montpellier cedex 5 - France)
- Hôpital Gui De Chaulliac (France)
6
Université de Lille (Lille - France)
7
CHU Reims - Centre Hospitalier Universitaire de Reims (45, rue Cognacq-Jay 51100 Reims - France)
8
Fondation Ophtalmologique Adolphe de Rothschild [Paris] (29 rue Manin - 75019 Paris - France)
9
CIC Lille - Centre d'Investigation Clinique - Innovation Technologique de Lille - CIC 1403 - CIC 9301 (Hôpital Cardiologique - Boulevard du Professeur Jules Leclercq - 59037 Lille Cedex - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : CIC1403 (101, rue de Tolbiac, 75013 Paris - France)
- Université de Lille : CIC9301 (Lille - France)
- CHRU Lille - Centre Hospitalier Régional Universitaire [Lille] (2, avenue Oscar Lambret - 59037 Lille Cedex - France)
10
CHI Créteil (France)
11
Service d'Ophtalmologie (CHU de Dijon) (CHU de Dijon - 14 rue Paul Gaffarel - 21079 Dijon - France)
- CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon - 14 rue Paul Gaffarel - 21079 Dijon - France)
12
Institut de la Vision (17 Rue Moreau, 75012 Paris - France)
- CNRS - Centre National de la Recherche Scientifique : UMR7210 (France)
- SU - Sorbonne Université : UM80 (21 rue de l’École de médecine - 75006 Paris - France)
- INSERM - Institut National de la Santé et de la Recherche Médicale : U968 (101, rue de Tolbiac, 75013 Paris - France)
13
CHIC - Centre Hospitalier Intercommunal de Créteil (40 Avenue de Verdun 94000 Créteil - France)
14
CHU Amiens-Picardie (France)
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.
Document type :
Journal articles
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https://hal.archives-ouvertes.fr/hal-02349434
Contributor : Pascale Roussel <>
Submitted on : Tuesday, February 25, 2020 - 4:04:39 PM
Last modification on : Monday, December 14, 2020 - 12:22:02 PM
Long-term archiving on: : Tuesday, May 26, 2020 - 6:34:08 PM
Contributor : Pascale Roussel <>
Submitted on : Tuesday, February 25, 2020 - 4:04:39 PM
Last modification on : Monday, December 14, 2020 - 12:22:02 PM
Long-term archiving on: : Tuesday, May 26, 2020 - 6:34:08 PM
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s41598-018-25003-9.pdf
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Distributed under a Creative Commons Attribution 4.0 International License
Identifiers
- HAL Id : hal-02349434, version 1
- DOI : 10.1038/s41598-018-25003-9
- PRODINRA : 428138
- PUBMED : 29717154
- PUBMEDCENTRAL : PMC5931512
- WOS : 000431114200019
Collections
CNRS | SU-MEDECINE | SORBONNE-UNIVERSITE | UNIV-LILLE | UNIV-MONTPELLIER | BS | U968 | SU-TI
Citation
Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, et al.. Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients. Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.6840. ⟨10.1038/s41598-018-25003-9⟩. ⟨hal-02349434⟩
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