Scientific Reports (May 2018)
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
- 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
Affiliations
- Aymeric Douillard
- CHRU Montpellier, Clinical Investigation Center (CIC) & Clinical Research and Epidemiology Unit (URCE)
- Marie-Christine Picot
- CHRU Montpellier, Clinical Investigation Center (CIC) & Clinical Research and Epidemiology Unit (URCE)
- Cécile Delcourt
- University of Bordeaux, ISPED
- Sabine Defoort-Dhellemmes
- Service d’Exploration de la Vision et Neuro-ophtalmologie, Hôpital Robert Salengro
- Nour Al-Dain Marzouka
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- Annie Lacroux
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- Xavier Zanlonghi
- Eye Clinic Sourdille Jules Verne
- Isabelle Drumare
- Service d’Exploration de la Vision et Neuro-ophtalmologie, Hôpital Robert Salengro
- Elsa Jozefowicz
- University Lille, Inserm, CHU Lille, CIC 1403 – Centre d’investigation clinique
- Béatrice Bocquet
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- Corinne Baudoin
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- Sarah Perez-Roustit
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- Sophie Arsène
- Eye Clinic, Hôpital de Tours, CHRU de Tours
- Valérie Gissot
- Inserm 1415, Centre d’investigation clinique, CHRU de Tours
- François Devin
- Eye Clinic, Centre Paradis, Monticelli
- Carl Arndt
- Eye Clinic, Hôpital Robert Debré
- Benjamin Wolff
- Eye Clinic, Maison Rouge
- Martine Mauget-Faÿsse
- Fondation Adolphe de Rothschild, 25 rue Manin
- Maddalena Quaranta
- Centre Ophtalmologique Rabelais
- Thibault Mura
- CHRU Montpellier, Clinical Investigation Center (CIC) & Clinical Research and Epidemiology Unit (URCE)
- Dominique Deplanque
- University Lille, Inserm, CHU Lille, CIC 1403 – Centre d’investigation clinique
- Hassiba Oubraham
- Eye Clinic, Hôpital Intercommunal
- Salomon Yves Cohen
- Eye Clinic, Hôpital Intercommunal
- Pierre Gastaud
- Eye Clinic, Hôpital Saint Roch, CHU de Nice
- Olivia Zambrowski
- Eye Clinic, Hôpital Intercommunal
- Catherine Creuzot-Garcher
- Eye Clinic, Hôpital Universitaire de Dijon and Eye nutrition and signaling group, INRA
- Saddek Mohand Saïd
- Sorbonne Université, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, 17 rue Moreau
- José-Alain Sahel
- Fondation Adolphe de Rothschild, 25 rue Manin
- Eric Souied
- Eye Clinic, Hôpital Intercommunal
- Solange Milazzo
- Department of Ophtalmology, Amiens University Hospital
- Rocio Blanco Garavito
- Eye Clinic, Hôpital Intercommunal
- Vasiliki Kalatzis
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- Bernard Puech
- Service d’Exploration de la Vision et Neuro-ophtalmologie, Hôpital Robert Salengro
- Christian Hamel
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- Isabelle Audo
- Sorbonne Université, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, 17 rue Moreau
- Isabelle Meunier
- Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051
- DOI
- https://doi.org/10.1038/s41598-018-25003-9
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 10
Abstract
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.
