Format

Send to

Choose Destination
Sci Rep. 2018 May 1;8(1):6840. doi: 10.1038/s41598-018-25003-9.

Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.

Author information

1
CHRU Montpellier, Clinical Investigation Center (CIC) & Clinical Research and Epidemiology Unit (URCE), Montpellier, France.
2
INSERM, CIC 1411, Montpellier, France.
3
University of Bordeaux, ISPED, F-33000, Bordeaux, France.
4
Inserm, U1219 - Bordeaux Population Health Research Center, F-33000, Bordeaux, France.
5
Service d'Exploration de la Vision et Neuro-ophtalmologie, Hôpital Robert Salengro, CHU de Lille, France.
6
Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051, Montpellier, France.
7
Eye Clinic Sourdille Jules Verne, Nantes, France.
8
University Lille, Inserm, CHU Lille, CIC 1403 - Centre d'investigation clinique, F-59000, Lille, France.
9
Eye Clinic, Hôpital de Tours, CHRU de Tours, Tours, France.
10
Inserm 1415, Centre d'investigation clinique, CHRU de Tours, Tours, France.
11
Eye Clinic, Centre Paradis, Monticelli, Marseille, France.
12
Eye Clinic, Hôpital Robert Debré, CHRU de Reims, France.
13
Eye Clinic, Maison Rouge, Strasbourg, France.
14
Fondation Adolphe de Rothschild, 25 rue Manin, 75019, Paris, France.
15
Centre Ophtalmologique Rabelais, Lyon, France.
16
Eye Clinic, Hôpital Intercommunal, Créteil, France.
17
Centre d'Imagerie Laser, Rue Antoine Bourdelle, Paris, France.
18
Eye Clinic, Hôpital Saint Roch, CHU de Nice, Nice, France.
19
Eye Clinic, Hôpital Universitaire de Dijon and Eye nutrition and signaling group, INRA, Dijon, France.
20
Sorbonne Université, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, 17 rue Moreau, 75012, Paris, France.
21
CHNO des Quinze-Vingts, DHU Sight Restore, INSERM-DHOS CIC1423, 28 rue de Charenton, 75012, Paris, France.
22
Institute of Ophthalmology, University College of London, London, EC1V 9EL, UK.
23
Académie des Sciences, Institut de France, Paris, France.
24
Department of Ophtalmology, Amiens University Hospital, Paris, France.
25
Centre de Référence Maladies Sensorielles Génétiques, Hôpital Gui de Chauliac, University of Montpellier, Institute for Neurosciences of Montpellier INSERM U1051, Montpellier, France. isabelannemeunier@yahoo.fr.

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.

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center