المؤلفون: Jay Chhablani, Giridhar Anantharaman, Francine Behar-Cohen, Camiel Boon, George Manayath, Rishi Singh

المصدر: Indian Journal of Ophthalmology, Vol 66, Iss 12, Pp 1700-1703 (2018)

مصطلحات موضوعية: Central serous chorioretinopathy, management, choroid, retina, expert panel, Ophthalmology, RE1-994

الوصف: Central serous chorioretinopathy (CSCR), one of the most common diseases in retina clinics, needs a special attention by retina specialists. Considering the challenges in diagnosis, classification, and management of this enigmatic disease and lack of level 1 evidence, there is a need for consensus with regard to establishing management protocols.

وصف الملف: electronic resource

Relation: http://www.ijo.in/article.asp?issn=0301-4738;year=2018;volume=66;issue=12;spage=1700;epage=1703;aulast=Chhablani; https://doaj.org/toc/0301-4738; https://doaj.org/toc/1998-3689

URL الوصول: https://doaj.org/article/83579d6f766547b89b62ca5e1192a2b6

المؤلفون: Matteo, Menean, Lea, Querques, Riccardo, Sacconi, Alessandro, Invernizzi, Camiel, Boon, Lee M, Jampol, Francesco, Bandello, Giuseppe, Querques

المصدر: Retina.

مصطلحات موضوعية: Ophthalmology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8690024cf42b91e929178fdbcb581b18
https://doi.org/10.1097/iae.0000000000003630

المؤلفون: Manon H.C.A Peeters, Mubeen Khan, Anoek A.M.B Rooijakkers, Timo Mulders, Lonneke Haer-Wigman, Camiel Boon, Caroline Klaver, Ingeborgh van den Born, Carel Hoyng, Frans Cremers, Anneke denHollander, Claire-Marie Dhaenens, Rob Collin

الوصف: Mutations in PRPH2, encoding peripherin-2, are associated with the development of a wide variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 variants that have been discovered over the last decades, we surveyed all published PRPH2 variants up to July 2020, describing 720 index patients that in total carried 245 unique variants. In addition, we identified seven novel PRPH2 variants in eight additional index patients. The pathogenicity of all variants was determined using the ACMG guidelines. With this, 107 variants were classified as pathogenic, 92 as likely pathogenic, one as benign, and two as likely benign. The remaining 50 variants were classified as variants of uncertain significance. Interestingly, of the in total 252 PRPH2 variants, more than half (n=137) were missense variants. All variants were uploaded into the Leiden Open source Variation Database. Our study underscores the need of experimental assays for variants of unknown significance to improve pathogenicity classification, which is needed to better understand genotype-phenotype correlations, and in the long-term, hopefully also support the development of therapeutic strategies for patients with PRPH2-associated IRD.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::85c42b813908e289c1061d14e9d9d754
https://doi.org/10.22541/au.161566715.59976839/v1

المؤلفون: Johanna M. Colijn, Anneke I. den Hollander, Ayse Demirkan, Audrey Cougnard-Grégoire, Timo Verzijden, Eveline Kersten, Magda A. Meester-Smoor, Benedicte M.J. Merle, Grigorios Papageorgiou, Shahzad Ahmad, Monique T. Mulder, Miguel Angelo Costa, Pascale Benlian, Geir Bertelsen, Alain M. Bron, Birte Claes, Catherine Creuzot-Garcher, Maja Gran Erke, Sascha Fauser, Paul J. Foster, Christopher J. Hammond, Hans-Werner Hense, Carel B. Hoyng, Anthony P. Khawaja, Jean-Francois Korobelnik, Stefano Piermarocchi, Tatiana Segato, Rufino Silva, Eric H. Souied, Katie M. Williams, Cornelia M. van Duijn, Cécile Delcourt, Caroline C.W. Klaver, Niyazi Acar, Lebriz Altay, Eleftherios Anastosopoulos, Augusto Azuara-Blanco, Tos Berendschot, Arthur Bergen, Christine Binquet, Alan Bird, Martin Bobak, Morten Bøgelund Larsen, Camiel Boon, Rupert Bourne, Lionel Brétillon, Rebecca Broe, Alain Bron, Gabrielle Buitendijk, Maria Luz Cachulo, Vittorio Capuano, Isabelle Carrière, Usha Chakravarthy, Michelle Chan, Petrus Chang, Johanna Colijn, Angela Cree, Phillippa Cumberland, José Cunha-Vaz, Vincent Daien, Eiko De Jong, Gabor Deak, Marie-Noëlle Delyfer, Anneke den Hollander, Martha Dietzel, Pedro Faria, Claudia Farinha, Robert Finger, Astrid Fletcher, Paul Foster, Panayiota Founti, Theo Gorgels, Jakob Grauslund, Franz Grus, Christopher Hammond, Thomas Heesterbeek, Manuel Hermann, René Hoehn, Ruth Hogg, Frank Holz, Carel Hoyng, Nomdo Jansonius, Sarah Janssen, Eiko de Jong, Anthony Khawaja, Caroline Klaver, Jean-François Korobelnik, Julia Lamparter, Mélanie Le Goff, Terho Lehtimäki, Irene Leung, Andrew Lotery, Matthias Mauschitz, Magda Meester, Bénédicte Merle, Verena Meyer zu Westrup, Edoardo Midena, Stefania Miotto, Alireza Mirshahi, Sadek Mohan-Saïd, Michael Mueller, Alyson Muldrew, Joaquim Murta, Stefan Nickels, Sandrina Nunes, Christopher Owen, Tunde Peto, Norbert Pfeiffer, Elena Prokofyeva, Jugnoo Rahi, Olli Raitakari, Franziska Rauscher, Luisa Ribeiro, Marie-Bénédicte Rougier, Alicja Rudnicka, José Sahel, Aggeliki Salonikiou, Clarisa Sanchez, Tina Schick, Steffen Schmitz-Valckenberg, Alexander Schuster, Cédric Schweitzer, Jasmin Shehata, Giuliana Silvestri, Christian Simader, Eric Souied, Martynas Speckauskas, Henriet Springelkamp, Robyn Tapp, Fotis Topouzis, Elisa van Leeuwen, Virginie Verhoeven, Hans Vingerling, Therese Von Hanno, Katie Williams, Christian Wolfram, Jennifer Yip, Jennyfer Zerbib, Soufiane Ajana, Blanca Arango-Gonzalez, Verena Arndt, Vaibhav Bhatia, Shomi S. Bhattacharya, Marc Biarnés, Anna Borrell, Sebastian Bühren, Sofia M. Calado, Sascha Dammeier, Eiko K. de Jong, Berta De la Cerda, Francisco J. Diaz-Corrales, Sigrid Diether, Eszter Emri, Tanja Endermann, Lucia L. Ferraro, Míriam Garcia, Thomas J. Heesterbeek, Sabina Honisch, Ellen Kilger, Hanno Langen, Imre Lengyel, Phil Luthert, Cyrille Maugeais, Magda Meester-Smoor, Bénédicte M.J. Merle Inserm, Jordi Monés, Everson Nogoceke, Frances M. Pool, Eduardo Rodríguez, Marius Ueffing, Karl U. Ulrich Bartz-Schmidt, Elisabeth M. van Leeuwen, Markus Zumbansen

المصدر: Ophthalmology. 126:393-406

مصطلحات موضوعية: genetic structures, Blood lipids, Physiology, Drusen, 03 medical and health sciences, Rotterdam Study, 0302 clinical medicine, Cholesterylester transfer protein, medicine, media_common.cataloged_instance, European union, 030304 developmental biology, media_common, 2. Zero hunger, 0303 health sciences, biology, business.industry, Lipid metabolism, Odds ratio, Macular degeneration, medicine.disease, eye diseases, 3. Good health, Ophthalmology, 030221 ophthalmology & optometry, biology.protein, lipids (amino acids, peptides, and proteins), sense organs, business

الوصف: PURPOSE: Genetic and epidemiologic studies have shown that lipid genes and High Density Lipoproteins (HDL) are implicated in age-related macular degeneration (AMD). We studied circulating lipid levels in relation to AMD in a large European dataset, and investigated whether this relationship is driven by certain sub fractions. DESIGN: (Pooled) analysis of cross-sectional data. PARTICIPANTS: 30,953 individuals aged 50+ participating in the E3 consortium; and 1530 individuals from the Rotterdam Study with lipid sub fraction data. METHODS: In E3, AMD features were graded per eye on fundus photographs using the Rotterdam Classification. Routine blood lipid measurements were available from each participant. Data on genetics, medication and confounders such as body mass index, were obtained from a common database. In a subgroup of the Rotterdam Study, lipid sub fractions were identified by the Nightingale biomarker platform. Random-intercepts mixed-effects models incorporating confounders and study site as a random-effect were used to estimate the associations. MAIN OUTCOME MEASURES: early, late or any AMD, phenotypic features of early AMD, lipid measurements. RESULTS: HDL was associated with an increased risk of AMD, corrected for potential confounders (Odds Ratio (OR) 1.21 per 1mmol/L increase (95% confidence interval[CI] 1.14-1.29); while triglycerides were associated with a decreased risk (OR 0.94 per 1mmol/L increase [95%CI 0.91-0.97]). Both were associated with drusen size, higher HDL raises the odds of larger drusen while higher triglycerides decreases the odds. LDL-cholesterol only reached statistical significance in the association with early AMD (p=0.045). Regarding lipid sub fractions: the concentration of extra-large HDL particles showed the most prominent association with AMD (OR 1.24 [95%CI 1.10-1.40]). The CETP risk variant (rs17231506) for AMD was in line with increased-HDL levels (p=7.7x10-7); but LIPC risk variants (rs2043085, rs2070895) were associated in an opposite way (p=1.0x10-6 and 1.6x10-4). CONCLUSIONS: Our study suggests that HDL-cholesterol is associated with increased risk of AMD and triglycerides negatively associated. Both show the strongest association with early AMD and drusen. Extra-large HDL sub fractions seem to be drivers in the relation with AMD, variants in lipid genes play a more ambiguous role in this association. Whether systemic lipids directly influence AMD or represent lipid metabolism in the retina remains a question to be answered.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9b265474ca8550ade48ead665e163da6
https://doi.org/10.1016/j.ophtha.2018.09.045

المؤلفون: Matthias M. Mauschitz, Pieter W.M. Bonnemaijer, Kersten Diers, Franziska G. Rauscher, Tobias Elze, Christoph Engel, Markus Loeffler, Johanna Maria Colijn, M. Arfan Ikram, Johannes R. Vingerling, Katie M. Williams, Christopher J. Hammond, Catherine Creuzot-Garcher, Alain M. Bron, Rufino Silva, Sandrina Nunes, Cécile Delcourt, Audrey Cougnard-Grégoire, Frank G. Holz, Caroline C.W. Klaver, Monique M.B. Breteler, Robert P. Finger, Niyazi Acar, Eleftherios Anastosopoulos, Augusto Azuara-Blanco, Tos Berendschot, Arthur Bergen, Geir Bertelsen, Christine Binquet, Alan Bird, Martin Bobak, Morten Bøgelund Larsen, Camiel Boon, Rupert Bourne, Lionel Brétillon, Rebecca Broe, Alain Bron, Gabrielle Buitendijk, Maria Luz Cachulo, Vittorio Capuano, Isabelle Carrière, Usha Chakravarthy, Michelle Chan, Petrus Chang, Johanna Colijn, Angela Cree, Phillippa Cumberland, José Cunha-Vaz, Vincent Daien, Eiko De Jong, Gabor Deak, Marie-Noëlle Delyfer, Anneke den Hollander, Martha Dietzel, Maja Gran Erke, Pedro Faria, Claudia Farinha, Sascha Fauser, Robert Finger, Astrid Fletcher, Paul Foster, Panayiota Founti, Theo Gorgels, Jakob Grauslund, Franz Grus, Christopher Hammond, Hans-Werner Hense, Manuel Hermann, René Hoehn, Ruth Hogg, Frank Holz, Carel Hoyng, Nomdo Jansonius, Sarah Janssen, Eveline Kersten, Anthony Khawaja, Caroline Klaver, Jean-François Korobelnik, Julia Lamparter, Mélanie Le Goff, Yara Lechanteur, Terho Lehtimäki, Irene Leung, Andrew Lotery, Matthias Mauschitz, Magda Meester, Bénédicte Merle, Verena Meyer zu Westrup, Edoardo Midena, Stefania Miotto, Alireza Mirshahi, Sadek Mohan-Saïd, Michael Mueller, Alyson Muldrew, Joaquim Murta, Stefan Nickels, Christopher Owen, Tunde Peto, Norbert Pfeiffer, Stefano Piermarocchi, Elena Prokofyeva, Jugnoo Rahi, Olli Raitakari, Franziska Rauscher, Luisa Ribeiro, Marie-Bénédicte Rougier, Alicja Rudnicka, José Sahel, Aggeliki Salonikiou, Clarisa Sanchez, Steffen Schmitz-Valckenberg, Alexander Schuster, Cédric Schweitzer, Tatiana Segato, Jasmin Shehata, Giuliana Silvestri, Christian Simader, Eric Souied, Martynas Speckauskas, Henriet Springelkamp, Robyn Tapp, Fotis Topouzis, Elisa van Leeuwen, Virginie Verhoeven, Timo Verzijden, Therese Von Hanno, Peter Wiedemann, Katie Williams, Christian Wolfram, Jennifer Yip, Jennyfer Zerbib

المساهمون: OEil, nutrition et signalisation cellulaire [CSGA], Centre des Sciences du Goût et de l'Alimentation [Dijon] (CSGA), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Centre National de la Recherche Scientifique (CNRS), Service d'Ophtalmologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), 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), Neuropsychiatrie : recherche épidémiologique et clinique, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Montrachet Study: Funding was provided by an Inter-regional grant (PHRC) and the Regional Council of Burgundy. Funded by INRA, CNRS, Université de Bourgogne, Regional Council of Burgundy France (PARI Agrale 1), FEDER (European Funding for Regional Economic Development), and French Government grant managed by the French National Research Agency (ANR) as part of the 'Investissements d’Avenir' program (reference ANR-11-LABX-0021-01-LipSTIC Labex)., Human Genetics, ANS - Cellular & Molecular Mechanisms, RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, RS: MHeNs - R3 - Neuroscience, Oogheelkunde, MUMC+: MA UECM Oogartsen MUMC (9), Perceptual and Cognitive Neuroscience (PCN), Epidemiology, Ophthalmology

المصدر: Ophthalmology, 125, 1526-1536
Ophthalmology: Journal of The American Academy of Ophthalmology
Ophthalmology: Journal of The American Academy of Ophthalmology, Elsevier, 2018, 125 (10), pp.1526-1536. ⟨10.1016/j.ophtha.2018.03.026⟩
Mauschitz, M M, Bonnemaijer, P W M, Diers, K, Rauscher, F G, Elze, T, Engel, C, Loeffler, M, Colijn, J M, Ikram, M A, Vingerling, J R, Williams, K M, Hammond, C J, Creuzot-Garcher, C, Bron, A M, Silva, R, Nunes, S, Delcourt, C, Cougnard-Grégoire, A, Holz, F G, Klaver, C C W, Breteler, M M B, Finger, R P & European Eye Epidemiology (E3) Consortium 2018, ' Systemic and Ocular Determinants of Peripapillary Retinal Nerve Fiber Layer Thickness Measurements in the European Eye Epidemiology (E3) Population ', Ophthalmology, vol. 125, no. 10, pp. 1526–1536 . https://doi.org/10.1016/j.ophtha.2018.03.026
Ophthalmology, 125(10), 1526-1536. Elsevier Inc.
Ophthalmology, 125(10), 1526-1536. Elsevier Science
Ophthalmology 125(10), 1526-1536 (2018). doi:10.1016/j.ophtha.2018.03.026
Ophthalmology, 125, 10, pp. 1526-1536
Ophthalmology, 125(10), 1526-1536. ELSEVIER SCIENCE INC
Mauschitz, M M, Bonnemaijer, P W M, Diers, K, Rauscher, F G, Elze, T, Engel, C, Loeffler, M, Colijn, J M, Ikram, M A, Vingerling, J R, Williams, K M, Hammond, C J, Creuzot-Garcher, C, Bron, A M, Silva, R, Nunes, S, Delcourt, C, Cougnard-Grégoire, A, Holz, F, Klaver, C & Breteler, M M B & Finger, R P 2018, ' Systemic and Ocular Determinants of Peripapillary Retinal Nerve Fiber Layer Thickness Measurements in the European Eye Epidemiology (E3) Population ', Ophthalmology . https://doi.org/10.1016/j.ophtha.2018.03.026

مصطلحات موضوعية: Retinal Ganglion Cells, Cross-Sectional Studies, Disease Progression, Europe, Glaucoma, Humans, Intraocular Pressure, Nerve Fibers, Optic Disk, Population Surveillance, Tomography, Optical Coherence, methods [Tomography, Optical Coherence], Intraocular pressure, OPTICAL COHERENCE TOMOGRAPHY, Cross-sectional study, Nerve Fibers/pathology, ANYANG CHILDHOOD EYE, AXIAL LENGTH, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], INTRAOCULAR-PRESSURE, Tomography, Optical Coherence/methods, Rotterdam Study, 0302 clinical medicine, physiopathology [Glaucoma], GLAUCOMA, epidemiology [Glaucoma], Tomography, education.field_of_study, GANGLION-CELL LAYER, epidemiology [Europe], pathology [Nerve Fibers], ASSOCIATION, 3. Good health, ALZHEIMERS-DISEASE, Population Surveillance/methods, pathology [Optic Disk], methods [Population Surveillance], Optic Disk/pathology, Cohort study, Glaucoma/diagnosis, medicine.medical_specialty, Population, physiology [Intraocular Pressure], Retinal Ganglion Cells/pathology, pathology [Retinal Ganglion Cells], Europe/epidemiology, 03 medical and health sciences, Ophthalmology, medicine, ddc:610, Intraocular Pressure/physiology, education, business.industry, diagnosis [Glaucoma], CONSORTIUM, medicine.disease, Confidence interval, ta3125, Optical Coherence, 030221 ophthalmology & optometry, DISC SIZE, business, Body mass index, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصف: Purpose: To investigate systemic and ocular determinants of peripapillary retinal nerve fiber layer thickness (pRNFLT) in the European population.Design: Cross-sectional meta-analysis.Participants: A total of 16 084 European adults from 8 cohort studies (mean age range, 56.9 +/- 12.3-82.1 +/- 4.2 years) of the European Eye Epidemiology (E3) consortium.Methods: We examined associations with pRNFLT measured by spectral-domain OCT in each study using multivariable linear regression and pooled results using random effects meta-analysis.Main Outcome Measures: Determinants of pRNFLT.Results: Mean pRNFLT ranged from 86.8 +/- 21.4 mu m in the Rotterdam Study I to 104.7 +/- 12.5 mu m in the Rotterdam Study III. We found the following factors to be associated with reduced pRNFLT: Older age (beta = -0.38 mu m/year; 95% confidence interval [CI], -0.57 to -0.18), higher intraocular pressure (10P) (beta = -0.36 mu m/mmHg; 95% CI, -0.56 to -0.15), visual impairment (beta = -5.50 mu m; 95% CI, -9.37 to -1.64), and history of systemic hypertension (beta = -0.54 mu m; 95% CI, -1.01 to -0.07) and stroke (beta = -1.94 mu m; 95% CI, -3.17 to -0.72). A suggestive, albeit nonsignificant, association was observed for dementia (beta = -3.11 mu m; 95% CI, -6.22 to 0.01). Higher pRNFLT was associated with more hyperopic spherical equivalent (beta = 1.39 mu m/diopter; 95% CI, 1.19-1.59) and smoking (beta = 1.53 mu m; 95% CI, 1.00-2.06 for current smokers compared with never-smokers).Conclusions: In addition to previously described determinants such as age and refraction, we found that systemic vascular and neurovascular diseases were associated with reduced pRNFLT. These may be of clinical relevance, especially in glaucoma monitoring of patients with newly occurring vascular comorbidities. (C) 2018 by the American Academy of Ophthalmology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93b712b2e5dbc04b785dae0813d7b676
http://hdl.handle.net/2066/196545