44 results on '"den Hollander, A."'
Search Results
2. Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium
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Ajana, Soufiane, Cougnard-Grégoire, Audrey, Delcourt, Cécile, Merle, Bénédicte M.J., Arango-Gonzalez, Blanca, Dammeier, Sascha, Diether, Sigrid, Honisch, Sabina, Kilger, Ellen, Ueffing, Marius, Endermann, Tanja, Zumbansen, Markus, Badura, Franz, De la Cerda, Berta, Biarnés, Marc, Borrell, Anna, Ferraro, Lucia L., Garcia, Míriam, Monés, Jordi, Rodríguez, Eduardo, Colijn, Johanna M., Ikram, A., Klaver, Caroline C.W., Meester-Smoor, Magda, Verzijden, Timo, Vingerling, Johannes, den Hollander, Anneke I., Heesterbeek, Thomas J., Kersten, Eveline, de Jong, Eiko K., Acar, I. Erkin, de Breuk, Anita, Emri, Eszter, Lengyel, Imre, Langen, Hanno, Nogoceke, Everson, Peto, Tunde, Luthert, Phil, Pool, Frances M., Acar, Ilhan E., Schijvenaars, Mascha M.V.A.P., Haer-Wigman, Lonneke, Bakker, Bjorn, de Jong, Sarah, Meester-Smoor, Magda A., Missotten, Tom O.A.R., Pauleikhoff, Daniel, Hense, Hans W., Silva, Rufino, Nunes, Sandrina, Melo, Joana B., Fauser, Sascha, Hoyng, Carel B., and Coenen, Marieke J.H.
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- 2021
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3. Genetic Risk, Lifestyle, and Age-Related Macular Degeneration in Europe: The EYE-RISK Consortium
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Colijn, Johanna M., Meester-Smoor, Magda, Verzijden, Timo, de Breuk, Anita, Silva, Rufino, Merle, Benedicte M.J., Cougnard-Grégoire, Audrey, Hoyng, Carel B., Fauser, Sascha, Coolen, Anthonius, Creuzot-Garcher, Catherine, Hense, Hans-Werner, Ueffing, Marius, Delcourt, Cecile, den Hollander, Anneke I., and Klaver, Caroline C.W.
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- 2021
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4. Predicting Progression to Advanced Age-Related Macular Degeneration from Clinical, Genetic, and Lifestyle Factors Using Machine Learning
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Acar, Erkin I., Arango-Gonzalez, Blanca, Armento, Angela, Badura, Franz, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Calado, Sofia M., Dammeier, Sascha, de Breuk, Anita, De la Cerda, Berta, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kilger, Ellen, Kortvely, Elod, Lastrucci, Claire, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodriguez-Bocanegra, Eduardo, Serrano, Luis, Sousa, Jose, Thee, Eric, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., Zumbansen, Markus, Ajana, Soufiane, Cougnard-Grégoire, Audrey, Colijn, Johanna M., Merle, Bénédicte M.J., Verzijden, Timo, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Hejblum, Boris P., Korobelnik, Jean-François, Meester-Smoor, Magda A., Jacqmin-Gadda, Hélène, Klaver, Caroline C.W., and Delcourt, Cécile
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- 2021
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5. Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration: The EYE-RISK Consortium
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Arango-Gonzalez, Blanca, Armento, Angela, Badura, Franz, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Calado, Sofia M., Dammeier, Sascha, Cerda, Berta De la, Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Honisch, Sabina, Kilger, Ellen, Kortvely, Elod, Lastrucci, Claire, Langen, Hanno, Lengyel, Imre, Luthert, Phil, Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodriguez-Bocanegra, Eduardo, Serrano, Luis, Sousa, Jose, Thee, Eric, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., Zumbansen, Markus, Acar, İlhan E., Lores-Motta, Laura, Colijn, Johanna M., Meester-Smoor, Magda A., Verzijden, Timo, Cougnard-Gregoire, Audrey, Ajana, Soufiane, Merle, Benedicte M.J., de Breuk, Anita, Heesterbeek, Thomas J., van den Akker, Erik, Daha, Mohamed R., Claes, Birte, Pauleikhoff, Daniel, Hense, Hans-Werner, van Duijn, Cornelia M., Fauser, Sascha, Hoyng, Carel B., Delcourt, Cécile, Klaver, Caroline C.W., Galesloot, Tessel E., and den Hollander, Anneke I.
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- 2020
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6. Prevalence of Age-Related Macular Degeneration in Europe: The Past and the Future
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Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Colijn, Johanna M., Cougnard-Grégoire, Audrey, Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Delcourt, Cécile, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Klaver, Caroline C.W., Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Merle, Bénédicte M.J., Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodríguez, Eduardo, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., van Leeuwen, Elisabeth M., Verzijden, Timo, Zumbansen, Markus, Acar, Niyazi, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Bergen, Arthur, Bertelsen, Geir, Binquet, Christine, Bird, Alan, Brétillon, Lionel, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Creuzot-Garcher, Catherine, Cumberland, Philippa, Cunha-Vaz, José, Daien, Vincent, Deak, Gabor, Delyfer, Marie-Noëlle, den Hollander, Anneke, Dietzel, Martha, Erke, Maja Gran, Fauser, Sascha, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Göbel, Arno, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Helmer, Catherine, Hense, Hans-Werner, Hermann, Manuel, Hoehn, René, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, Khawaja, Anthony, Klaver, Caroline, Korobelnik, Jean-François, Lamparter, Julia, Le Goff, Mélanie, Leal, Sergio, Lechanteur, Yara, Lehtimäki, Terho, Lotery, Andrew, Leung, Irene, Mauschitz, Matthias, Merle, Bénédicte, Meyer zu Westrup, Verena, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Saïd, Sadek, Mueller, Michael, Muldrew, Alyson, Nunes, Sandrina, Oexle, Konrad, Piermarocchi, Stefano, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Ribeiro, Luisa, Rougier, Marie-Bénédicte, Sahel, José, Salonikiou, Aggeliki, Sanchez, Clarisa, Schmitz-Valckenberg, Steffen, Schweitzer, Cédric, Segato, Tatiana, Shehata, Jasmin, Silva, Rufino, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, Verhoeven, Virginie, Von Hanno, Therese, Vujosevic, Stela, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Zwiener, Isabella, Buitendijk, Gabriëlle H.S., Alves, Dalila, Cachulo, Maria L., Khawaja, Anthony P., Cougnard-Gregoire, Audrey, Korb, Christina, Erke, Maja G., Anastasopoulos, Eleftherios, Meester-Smoor, Magda A., de Jong, Paulus T.V.M., Vingerling, Johannes R., Pfeiffer, Norbert, Fletcher, Astrid E., and Foster, Paul J.
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- 2017
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7. Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia
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Acar, Niyazi, Altay, Lebriz, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bergen, Arthur, Bertelsen, Geir, Binquet, Christine, Bird, Alan, Bobak, Martin, Larsen, Morten Bøgelund, Boon, Camiel, Bourne, Rupert, Brétillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carrière, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cougnard-Grégoire, Audrey, Cree, Angela, Creuzot-Garcher, Catherine, Cumberland, Phillippa, Cunha-Vaz, José, Daien, Vincent, De Jong, Eiko, Deak, Gabor, Delcourt, Cécile, Delyfer, Marie-Noëlle, Hollander, Anneke den, Dietzel, Martha, Erke, Maja Gran, Faria, Pedro, Farinha, Claudia, Fauser, Sascha, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Heesterbeek, Thomas, Hense, Hans-Werner, Hermann, Manuel, Hoehn, René, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, de Jong, Eiko, Khawaja, Anthony, Klaver, Caroline, Korobelnik, Jean-François, Lamparter, Julia, Le Goff, Mélanie, Lehtimäki, Terho, Leung, Irene, Lotery, Andrew, Mauschitz, Matthias, Meester, Magda, Merle, Bénédicte, Meyer zu Westrup, Verena, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Saïd, Sadek, Mueller, Michael, Muldrew, Alyson, Murta, Joaquim, Nickels, Stefan, Nunes, Sandrina, Owen, Christopher, Peto, Tunde, Pfeiffer, Norbert, Piermarocchi, Stefano, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Rauscher, Franziska, Ribeiro, Luisa, Rougier, Marie-Bénédicte, Rudnicka, Alicja, Sahel, José, Salonikiou, Aggeliki, Sanchez, Clarisa, Schick, Tina, Schmitz-Valckenberg, Steffen, Schuster, Alexander, Schweitzer, Cédric, Segato, Tatiana, Shehata, Jasmin, Silva, Rufino, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Speckauskas, Martynas, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, van Leeuwen, Elisa, Verhoeven, Virginie, Verzijden, Timo, Vingerling, Hans, Von Hanno, Therese, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, Ajana, Soufiane, Arango-Gonzalez, Blanca, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Colijn, Johanna M., Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Klaver, Caroline C.W., Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Merle Inserm, Bénédicte M.J., Monés, Jordi, Nogoceke, Everson, Pool, Frances M., Rodríguez, Eduardo, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., van Leeuwen, Elisabeth M., Zumbansen, Markus, Demirkan, Ayse, Meester-Smoor, Magda A., Merle, Benedicte M.J., Papageorgiou, Grigorios, Ahmad, Shahzad, Mulder, Monique T., Costa, Miguel Angelo, Benlian, Pascale, Bron, Alain M., Claes, Birte, Foster, Paul J., Hammond, Christopher J., Khawaja, Anthony P., Korobelnik, Jean-Francois, Souied, Eric H., Williams, Katie M., and van Duijn, Cornelia M.
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- 2019
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8. Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration: The EYE-RISK Consortium
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Ajana, Soufiane, Arango-Gonzalez, Blanca, Armento, Angela, Arndt, Verena, Bhatia, Vaibhav, Bhattacharya, Shomi S., Biarnés, Marc, Borrell, Anna, Bühren, Sebastian, Calado, Sofia M., Colijn, Johanna M., Cougnard-Grégoire, Audrey, Dammeier, Sascha, de Jong, Eiko K., De la Cerda, Berta, Delcourt, Cécile, den Hollander, Anneke I., Diaz-Corrales, Francisco J., Diether, Sigrid, Emri, Eszter, Endermann, Tanja, Ferraro, Lucia L., Garcia, Míriam, Heesterbeek, Thomas J., Honisch, Sabina, Hoyng, Carel B., Kersten, Eveline, Kilger, Ellen, Klaver, Caroline C.W., Langen, Hanno, Lengyel, Imre, Luthert, Phil, Maugeais, Cyrille, Meester-Smoor, Magda, Merle, Bénédicte M.J., Monés, Jordi, Nogoceke, Everson, Peto, Tunde, Pool, Frances M., Rodríguez, Eduardo, Ueffing, Marius, Ulrich Bartz-Schmidt, Karl U., van Leeuwen, Elisabeth M., Verzijden, Timo, Zumbansen, Markus, Vasiliev, Vassil, de Koning-Backus, Alexandra P.M., Delyfer, Marie-Noëlle, Kiefte-de Jong, Jessica C., Féart, Catherine, Samieri, Cécilia, Franco, Oscar H., and Korobelnik, Jean-François
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- 2019
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9. Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch’s Membrane
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Corominas, Jordi, Colijn, Johanna M., Geerlings, Maartje J., Pauper, Marc, Bakker, Bjorn, Amin, Najaf, Lores Motta, Laura, Kersten, Eveline, Garanto, Alejandro, Verlouw, Joost A.M., van Rooij, Jeroen G.J., Kraaij, Robert, de Jong, Paulus T.V.M., Hofman, Albert, Vingerling, Johannes R., Schick, Tina, Fauser, Sascha, de Jong, Eiko K., van Duijn, Cornelia M., Hoyng, Carel B., Klaver, Caroline C.W., and den Hollander, Anneke I.
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- 2018
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10. The Decreasing Prevalence of Nonrefractive Visual Impairment in Older Europeans: A Meta-analysis of Published and Unpublished Data
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Acar, Niyazi, Anastosopoulos, Eleftherios, Azuara-Blanco, Augusto, Berendschot, Tos, Bergen, Arthur, Bertelsen, Geir, Binquet, Christine, Bird, Alan, Bobak, Martin, Boon, Camiel, Brétillon, Lionel, Broe, Rebecca, Bron, Alain, Buitendijk, Gabrielle, Cachulo, Maria Luz, Capuano, Vittorio, Carrière, Isabelle, Chakravarthy, Usha, Chan, Michelle, Chang, Petrus, Colijn, Johanna, Cougnard-Grégoire, Audrey, Cree, Angela, Creuzot-Garcher, Catherine, Cumberland, Phillippa, Cunha-Vaz, José, Daien, Vincent, De Jong, Eiko, Deak, Gabor, Delcourt, Cécile, Delyfer, Marie-Noëlle, den Hollander, Anneke, Dietzel, Martha, Erke, Maja Gran, Faria, Pedro, Farinha, Claudia, Fauser, Sascha, Finger, Robert, Fletcher, Astrid, Foster, Paul, Founti, Panayiota, Gorgels, Theo, Grauslund, Jakob, Grus, Franz, Hammond, Christopher, Hansen, Morten, Helmer, Catherine, Hense, Hans-Werner, Hermann, Manuel, Hoehn, René, Hogg, Ruth, Holz, Frank, Hoyng, Carel, Jansonius, Nomdo, Janssen, Sarah, Kersten, Eveline, Khawaja, Anthony, Klaver, Caroline, Korobelnik, Jean-François, Lamparter, Julia, Le Goff, Mélanie, Lechanteur, Yara, Lehtimäki, Terho, Leung, Irene, Lotery, Andrew, Mauschitz, Matthias, Meester, Magda, Merle, Bénédicte, Meyer zu Westrup, Verena, Midena, Edoardo, Miotto, Stefania, Mirshahi, Alireza, Mohan-Saïd, Sadek, Mueller, Michael, Muldrew, Alyson, Murta, Joaquim, Nickels, Stefan, Nunes, Sandrina, Owen, Christopher, Peto, Tunde, Pfeiffer, Norbert, Piermarocchi, Stefano, Prokofyeva, Elena, Rahi, Jugnoo, Raitakari, Olli, Rauscher, Franziska, Ribeiro, Luisa, Rougier, Marie-Bénédicte, Rudnicka, Alicja, Sahel, José, Salonikiou, Aggeliki, Sanchez, Clarisa, Schmitz-Valckenberg, Steffen, Schouten, Johannes, Schuster, Alexander, Schweitzer, Cédric, Segato, Tatiana, Shehata, Jasmin, Silva, Rufino, Silvestri, Giuliana, Simader, Christian, Souied, Eric, Speckauskas, Martynas, Springelkamp, Henriet, Tapp, Robyn, Topouzis, Fotis, van Leeuwen, Elisa, Verhoeven, Virginie, Verzijden, Timo, Von Hanno, Therese, Vujosevic, Stela, Wiedemann, Peter, Williams, Katie, Wolfram, Christian, Yip, Jennifer, Zerbib, Jennyfer, von Hanno, Therese, Khawaja, Anthony P., Verhoeven, Virginie J.M., Hogg, Ruth E., Höhn, René, Colijn, Johanna M., Buitendijk, Gabriëlle H.S., Evans, Jennifer, Nitsch, Dorothea, Yip, Jennifer L.Y., Foster, Paul J., and Klaver, Caroline C.W.
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- 2018
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11. Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration
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Lorés-Motta, Laura, Paun, Constantin C., Corominas, Jordi, Pauper, Marc, Geerlings, Maartje J., Altay, Lebriz, Schick, Tina, Daha, Mohamed R., Fauser, Sascha, Hoyng, Carel B., den Hollander, Anneke I., and de Jong, Eiko K.
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- 2018
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12. Chronic Central Serous Chorioretinopathy Is Associated with Genetic Variants Implicated in Age-Related Macular Degeneration
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de Jong, Eiko K., Breukink, Myrte B., Schellevis, Rosa L., Bakker, Bjorn, Mohr, Jacqueline K., Fauser, Sascha, Keunen, Jan E.E., Hoyng, Carel B., den Hollander, Anneke I., and Boon, Camiel J.F.
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- 2015
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13. Dominant Cystoid Macular Dystrophy
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Saksens, Nicole T.M., van Huet, Ramon A.C., van Lith-Verhoeven, Janneke J.C., den Hollander, Anneke I., Hoyng, Carel B., and Boon, Camiel J.F.
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- 2015
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14. Mutations in MFSD8, Encoding a Lysosomal Membrane Protein, Are Associated with Nonsyndromic Autosomal Recessive Macular Dystrophy
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Roosing, Susanne, van den Born, L. Ingeborgh, Sangermano, Riccardo, Banfi, Sandro, Koenekoop, Robert K., Zonneveld-Vrieling, Marijke N., Klaver, Caroline C.W., van Lith-Verhoeven, Janneke J.C., Cremers, Frans P.M., den Hollander, Anneke I., and Hoyng, Carel B.
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- 2015
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15. Polymorphisms in Vascular Endothelial Growth Factor Receptor 2 Are Associated with Better Response Rates to Ranibizumab Treatment in Age-related Macular Degeneration
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Hermann, Manuel M., van Asten, Freekje, Muether, Philipp S., Smailhodzic, Dzenita, Lichtner, Peter, Hoyng, Carel B., Kirchhof, Bernd, Grefkes, Christian, den Hollander, Anneke I., and Fauser, Sascha
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- 2014
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16. Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa
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Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Hagen, P. Martin, Stoffels, Monique, Neveling, Kornelia, Henkes, Arjen, Kipping-Geertsema, Mieke, Hoefsloot, Lies H., Hoyng, Carel B., Simon, Anna, den Hollander, Anneke I., Cremers, Frans P.M., and Collin, Rob W.J.
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- 2013
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17. Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction
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Roosing, Susanne, van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., de Baere, Elfride, Collin, Rob W.J., Koenekoop, Robert K., Leroy, Bart P., van Moll-Ramirez, Norka, Venselaar, Hanka, Riemslag, Frans C.C., Cremers, Frans P.M., Klaver, Caroline C.W., and den Hollander, Anneke I.
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- 2013
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18. Cumulative Effect of Risk Alleles in CFH, ARMS2, and VEGFA on the Response to Ranibizumab Treatment in Age-related Macular Degeneration
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Smailhodzic, Dzenita, Muether, Philipp S., Chen, John, Kwestro, Angela, Zhang, Alice Yang, Omar, Amer, Van de Ven, Johannes P.H., Keunen, Jan E.E., Kirchhof, Bernd, Hoyng, Carel B., Klevering, B. Jeroen, Koenekoop, Robert K., Fauser, Sascha, and den Hollander, Anneke I.
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- 2012
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19. A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens
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Littink, Karin W., van Genderen, Maria M., van Schooneveld, Mary J., Visser, Linda, Riemslag, Frans C.C., Keunen, Jan E.E., Bakker, Bjorn, Zonneveld, Marijke N., den Hollander, Anneke I., Cremers, Frans P.M., and van den Born, L. Ingeborgh
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- 2012
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20. Clinical and Genetic Characteristics of Late-onset Stargardt's Disease
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Westeneng-van Haaften, Sarah C., Boon, Camiel J.F., Cremers, Frans P.M., Hoefsloot, Lies H., den Hollander, Anneke I., and Hoyng, Carel B.
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- 2012
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21. Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
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Thiadens, Alberta A.H.J., Phan, T. My Lan, Zekveld-Vroon, Renate C., Leroy, Bart P., van den Born, L. Ingeborgh, Hoyng, Carel B., Klaver, Caroline C.W., Roosing, Susanne, Pott, Jan-Willem R., van Schooneveld, Mary J., van Moll-Ramirez, Norka, van Genderen, Maria M., Boon, Camiel J.F., den Hollander, Anneke I., Bergen, Arthur A.B., De Baere, Elfride, Cremers, Frans P.M., and Lotery, Andrew J.
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- 2012
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22. Risk Alleles in CFH and ARMS2 Are Independently Associated with Systemic Complement Activation in Age-related Macular Degeneration
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Smailhodzic, Dzenita, Klaver, Caroline C.W., Klevering, B. Jeroen, Boon, Camiel J.F., Groenewoud, Joannes M.M., Kirchhof, Bernd, Daha, Mohamed R., den Hollander, Anneke I., and Hoyng, Carel B.
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- 2012
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23. CLRN1 Mutations Cause Nonsyndromic Retinitis Pigmentosa
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Khan, Muhammad Imran, Kersten, Ferry F.J., Azam, Maleeha, Collin, Rob W.J., Hussain, Alamdar, Shah, Syed Tahir-A., Keunen, Jan E.E., Kremer, Hannie, Cremers, Frans P.M., Qamar, Raheel, and den Hollander, Anneke I.
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- 2011
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24. Mutations in the EYS Gene Account for Approximately 5% of Autosomal Recessive Retinitis Pigmentosa and Cause a Fairly Homogeneous Phenotype
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Littink, Karin W., van den Born, L. Ingeborgh, Koenekoop, Robert K., Collin, Rob W.J., Zonneveld, Marijke N., Blokland, Ellen A.W., Khan, Hayat, Theelen, Thomas, Hoyng, Carel B., Cremers, Frans P.M., den Hollander, Anneke I., and Klevering, B. Jeroen
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- 2010
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25. Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy
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Thiadens, Alberta A.H.J., Roosing, Susanne, Collin, Rob W.J., van Moll-Ramirez, Norka, van Lith-Verhoeven, Janneke J.C., van Schooneveld, Mary J., den Hollander, Anneke I., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P.M., and Klaver, Caroline C.W.
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- 2010
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26. Central Areolar Choroidal Dystrophy
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Boon, Camiel J.F., Klevering, B. Jeroen, Cremers, Frans P.M., Zonneveld-Vrieling, Marijke N., Theelen, Thomas, Den Hollander, Anneke I., and Hoyng, Carel B.
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- 2009
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27. Development of a Genotype Assay for Age-Related Macular Degeneration
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de Breuk, Anita, primary, Acar, Ilhan E., additional, Kersten, Eveline, additional, Schijvenaars, Mascha M.V.A.P., additional, Colijn, Johanna M., additional, Haer-Wigman, Lonneke, additional, Bakker, Bjorn, additional, de Jong, Sarah, additional, Meester-Smoor, Magda A., additional, Verzijden, Timo, additional, Missotten, Tom O.A.R., additional, Monés, Jordi, additional, Biarnés, Marc, additional, Pauleikhoff, Daniel, additional, Hense, Hans W., additional, Silva, Rufino, additional, Nunes, Sandrina, additional, Melo, Joana B., additional, Fauser, Sascha, additional, Hoyng, Carel B., additional, Ueffing, Marius, additional, Coenen, Marieke J.H., additional, Klaver, Caroline C.W., additional, den Hollander, Anneke I., additional, Ajana, Soufiane, additional, Cougnard-Grégoire, Audrey, additional, Delcourt, Cécile, additional, Merle, Bénédicte M.J., additional, Arango-Gonzalez, Blanca, additional, Dammeier, Sascha, additional, Diether, Sigrid, additional, Honisch, Sabina, additional, Kilger, Ellen, additional, Endermann, Tanja, additional, Zumbansen, Markus, additional, Badura, Franz, additional, De la Cerda, Berta, additional, Borrell, Anna, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Rodríguez, Eduardo, additional, Ikram, A., additional, Meester-Smoor, Magda, additional, Vingerling, Johannes, additional, Heesterbeek, Thomas J., additional, de Jong, Eiko K., additional, Acar, I. Erkin, additional, de Breuk, Anita, additional, Emri, Eszter, additional, Lengyel, Imre, additional, Langen, Hanno, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Luthert, Phil, additional, and Pool, Frances M., additional
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- 2021
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28. Predicting Progression to Advanced Age-Related Macular Degeneration from Clinical, Genetic, and Lifestyle Factors Using Machine Learning
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Ajana, Soufiane, primary, Cougnard-Grégoire, Audrey, additional, Colijn, Johanna M., additional, Merle, Bénédicte M.J., additional, Verzijden, Timo, additional, de Jong, Paulus T.V.M., additional, Hofman, Albert, additional, Vingerling, Johannes R., additional, Hejblum, Boris P., additional, Korobelnik, Jean-François, additional, Meester-Smoor, Magda A., additional, Ueffing, Marius, additional, Jacqmin-Gadda, Hélène, additional, Klaver, Caroline C.W., additional, Delcourt, Cécile, additional, Acar, Erkin I., additional, Arango-Gonzalez, Blanca, additional, Armento, Angela, additional, Badura, Franz, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Calado, Sofia M., additional, Dammeier, Sascha, additional, de Breuk, Anita, additional, De la Cerda, Berta, additional, den Hollander, Anneke I., additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Heesterbeek, Thomas J., additional, Honisch, Sabina, additional, Hoyng, Carel B., additional, Kilger, Ellen, additional, Kortvely, Elod, additional, Lastrucci, Claire, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Pool, Frances M., additional, Rodriguez-Bocanegra, Eduardo, additional, Serrano, Luis, additional, Sousa, Jose, additional, Thee, Eric, additional, Ulrich Bartz-Schmidt, Karl U., additional, and Zumbansen, Markus, additional
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- 2021
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29. Integrating Metabolomics, Genomics, and Disease Pathways in Age-Related Macular Degeneration
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Acar, İlhan E., primary, Lores-Motta, Laura, additional, Colijn, Johanna M., additional, Meester-Smoor, Magda A., additional, Verzijden, Timo, additional, Cougnard-Gregoire, Audrey, additional, Ajana, Soufiane, additional, Merle, Benedicte M.J., additional, de Breuk, Anita, additional, Heesterbeek, Thomas J., additional, van den Akker, Erik, additional, Daha, Mohamed R., additional, Claes, Birte, additional, Pauleikhoff, Daniel, additional, Hense, Hans-Werner, additional, van Duijn, Cornelia M., additional, Fauser, Sascha, additional, Hoyng, Carel B., additional, Delcourt, Cécile, additional, Klaver, Caroline C.W., additional, Galesloot, Tessel E., additional, den Hollander, Anneke I., additional, Arango-Gonzalez, Blanca, additional, Armento, Angela, additional, Badura, Franz, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Calado, Sofia M., additional, Dammeier, Sascha, additional, Cerda, Berta De la, additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Honisch, Sabina, additional, Kilger, Ellen, additional, Kortvely, Elod, additional, Lastrucci, Claire, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Pool, Frances M., additional, Rodriguez-Bocanegra, Eduardo, additional, Serrano, Luis, additional, Sousa, Jose, additional, Thee, Eric, additional, Ueffing, Marius, additional, Ulrich Bartz-Schmidt, Karl U., additional, and Zumbansen, Markus, additional
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- 2020
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30. The Decreasing Prevalence of Nonrefractive Visual Impairment in Older Europeans: A Meta-analysis of Published and Unpublished Data
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Delcourt, C., Le Goff, M., von Hanno, T., Mirshahi, A., Khawaja, A. P., Verhoeven, V. J. M., Hogg, R. E., Anastosopoulos, E., Cachulo, M. L., Hohn, R., Wolfram, C., Bron, A., Miotto, S., Carriere, I., Colijn, J. M., Buitendijk, G. H. S., Evans, J., Nitsch, D., Founti, P., Yip, J. L. Y., Pfeiffer, N., Creuzot-Garcher, C., Silva, R., Piermarocchi, S., Topouzis, F., Bertelsen, G., Foster, P. J., Fletcher, A., Klaver, C. C. W., Korobelnik, J. -F., Acar, N., Azuara-Blanco, A., Berendschot, T., Bergen, A., Binquet, C., Bird, A., Bobak, M., Boon, C., Bretillon, L., Broe, R., Buitendijk, G., Capuano, V., Chakravarthy, U., Chan, M., Chang, P., Colijn, J., Cougnard-Gregoire, A., Cree, A., Cumberland, P., Cunha-Vaz, J., Daien, V., De Jong, E., Deak, G., Delyfer, M. -N., den Hollander, A., Dietzel, M., Erke, M. G., Faria, P., Farinha, C., Fauser, S., Finger, R., Foster, P., Gorgels, T., Grauslund, J., Grus, F., Hammond, C., Hansen, M., Helmer, C., Hense, H. -W., Hermann, M., Hoehn, R., Hogg, R., Holz, F., Hoyng, C., Jansonius, N., Janssen, S., Kersten, E., Khawaja, A., Klaver, C., Lamparter, J., Lechanteur, Y., Lehtimaki, T., Leung, I., Lotery, A., Mauschitz, M., Meester, M., Merle, B., Meyer zu Westrup, V., Midena, E., Mohan-Said, S., Mueller, M., Muldrew, A., Murta, J., Nickels, S., Nunes, S., Owen, C., Peto, T., Prokofyeva, E., Rahi, J., Raitakari, O., Rauscher, F., Ribeiro, L., Rougier, M. -B., Rudnicka, A., Randjvar, Sahel, Salonikiou, A., Sanchez, C., Schmitz-Valckenberg, S., Schouten, J., Schuster, A., Schweitzer, C., Segato, T., Shehata, J., Silvestri, G., Simader, C., Souied, E., Speckauskas, M., Springelkamp, H., Tapp, R., van Leeuwen, E., Verhoeven, V., Verzijden, T., Von Hanno, T., Vujosevic, S., Wiedemann, P., Williams, K., Yip, J., and Zerbib, J.
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Europe ,Aged ,Humans ,Prevalence ,Vision, Low ,Visually Impaired Persons ,Visual Acuity ,Vision ,Low - Abstract
TOPIC: To estimate the prevalence of nonrefractive visual impairment and blindness in European persons 55 years of age and older. CLINICAL RELEVANCE: Few visual impairment and blindness prevalence estimates are available for the European population. In addition, many of the data collected in European population-based studies currently are unpublished and have not been included in previous estimates. METHODS: Fourteen European population-based studies participating in the European Eye Epidemiology Consortium (n = 70 723) were included. Each study provided nonrefractive visual impairment and blindness prevalence estimates stratified by age (10-year strata) and gender. Nonrefractive visual impairment and blindness were defined as best-corrected visual acuity worse than 20/60 and 20/400 in the better eye, respectively. Using random effects meta-analysis, prevalence rates were estimated according to age, gender, geographical area, and period (1991-2006 and 2007-2012). Because no data were available for Central and Eastern Europe, population projections for numbers of affected people were estimated using Eurostat population estimates for European high-income countries in 2000 and 2010. RESULTS: The age-standardized prevalence of nonrefractive visual impairment in people 55 years of age or older decreased from 2.22% (95% confidence interval [CI], 1.34-3.10) from 1991 through 2006 to 0.92% (95% CI, 0.42-1.42) from 2007 through 2012. It strongly increased with age in both periods (up to 15.69% and 4.39% in participants 85 years of age or older from 1991 through 2006 and from 2007 through 2012, respectively). Age-standardized prevalence of visual impairment tended to be higher in women than men from 1991 through 2006 (2.67% vs. 1.88%), but not from 2007 through 2012 (0.87% vs. 0.88%). No differences were observed between northern, western, and southern regions of Europe. The projected numbers of affected older inhabitants in European high-income countries decreased from 2.5 million affected individuals in 2000 to 1.2 million in 2010. Of those, 584 000 were blind in 2000, in comparison with 170 000 who were blind in 2010. CONCLUSIONS: Despite the increase in the European older population, our study indicated that the number of visually impaired people has decreased in European high-income countries in the last 20 years. This may be the result of major improvements in eye care and prevention, the decreasing prevalence of eye diseases, or both.
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- 2018
31. Genetic Risk, Lifestyle, and Age-Related Macular Degeneration in Europe: The EYE-RISK Consortium
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Johanna M, Colijn, Magda, Meester-Smoor, Timo, Verzijden, Anita, de Breuk, Rufino, Silva, Benedicte M J, Merle, Audrey, Cougnard-Grégoire, Carel B, Hoyng, Sascha, Fauser, Anthonius, Coolen, Catherine, Creuzot-Garcher, Hans-Werner, Hense, Marius, Ueffing, Cecile, Delcourt, Anneke I, den Hollander, and Caroline C W, Klaver
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Male ,Incidence ,Middle Aged ,Polymorphism, Single Nucleotide ,Risk Assessment ,Europe ,Macular Degeneration ,Cross-Sectional Studies ,Gene Frequency ,Risk Factors ,Case-Control Studies ,Population Surveillance ,Humans ,Female ,Genetic Predisposition to Disease ,Life Style ,Aged - Abstract
Age-related macular degeneration (AMD) is a common multifactorial disease in the elderly with a prominent genetic basis. Many risk variants have been identified, but the interpretation remains challenging. We investigated the genetic distribution of AMD-associated risk variants in a large European consortium, calculated attributable and pathway-specific genetic risks, and assessed the influence of lifestyle on genetic outcomes.Pooled analysis of cross-sectional data from the European Eye Epidemiology Consortium.Seventeen thousand one hundred seventy-four individuals 45 years of age or older participating in 6 population-based cohort studies, 2 clinic-based studies, and 1 case-control study.Age-related macular degeneration was diagnosed and graded based on fundus photographs. Data on genetics, lifestyle, and diet were harmonized. Minor allele frequencies and population-attributable fraction (PAF) were calculated. A total genetic risk score (GRS) and pathway-specific risk scores (complement, lipid, extra-cellular matrix, other) were constructed based on the dosage of SNPs and conditional β values; a lifestyle score was constructed based on smoking and diet.Intermediate and late AMD.The risk variants with the largest difference between late AMD patients and control participants and the highest PAFs were located in ARMS2 (rs3750846) and CHF (rs570618 and rs10922109). Combining all genetic variants, the total genetic risk score ranged from -3.50 to 4.63 and increased with AMD severity. Of the late AMD patients, 1581 of 1777 (89%) showed a positive total GRS. The complement pathway and ARMS2 were by far the most prominent genetic pathways contributing to late AMD (positive GRS, 90% of patients with late disease), but risk in 3 pathways was most frequent (35% of patients with late disease). Lifestyle was a strong determinant of the outcome in each genetic risk category; unfavorable lifestyle increased the risk of late AMD at least 2-fold.Genetic risk variants contribute to late AMD in most patients. However, lifestyle factors have a strong influence on the outcome of genetic risk and should be a strong focus in patient management. Genetic risks in ARMS2 and the complement pathway are present in most late AMD patients but are mostly combined with risks in other pathways.
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- 2020
32. Development of a Genotype Assay for Age-Related Macular Degeneration: The EYE-RISK Consortium
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Anita, de Breuk, Ilhan E, Acar, Eveline, Kersten, Mascha M V A P, Schijvenaars, Johanna M, Colijn, Lonneke, Haer-Wigman, Bjorn, Bakker, Sarah, de Jong, Magda A, Meester-Smoor, Timo, Verzijden, Tom O A R, Missotten, Jordi, Monés, Marc, Biarnés, Daniel, Pauleikhoff, Hans W, Hense, Rufino, Silva, Sandrina, Nunes, Joana B, Melo, Sascha, Fauser, Carel B, Hoyng, Marius, Ueffing, Marieke J H, Coenen, Caroline C W, Klaver, Anneke I, den Hollander, and Frances M, Pool
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Aged, 80 and over ,Male ,Genotype ,DNA ,Middle Aged ,Polymorphism, Single Nucleotide ,Macular Degeneration ,Phenotype ,Risk Factors ,Case-Control Studies ,Humans ,Genetic Predisposition to Disease ,Eye Proteins ,Aged - Abstract
To develop a genotype assay to assess associations with common and rare age-related macular degeneration (AMD) risk variants, to calculate an overall genetic risk score (GRS), and to identify potential misdiagnoses with inherited macular dystrophies that mimic AMD.Case-control study.Individuals (n = 4740) from 5 European cohorts.We designed single-molecule molecular inversion probes for target selection and used next generation sequencing to sequence 87 single nucleotide polymorphisms (SNPs), coding and splice-site regions of 10 AMD-(related) genes (ARMS2, C3, C9, CD46, CFB, CFH, CFI, HTRA1, TIMP3, and SLC16A8), and 3 genes that cause inherited macular dystrophies (ABCA4, CTNNA1, and PRPH2). Genetic risk scores for common AMD risk variants were calculated based on effect size and genotype of 52 AMD-associated variants. Frequency of rare variants was compared between late AMD patients and control individuals with logistic regression analysis.Genetic risk score, association of genetic variants with AMD, and genotype-phenotype correlations.We observed high concordance rates between our platform and other genotyping platforms for the 69 successfully genotyped SNPs (96%) and for the rare variants (99%). We observed a higher GRS for patients with late AMD compared with patients with early/intermediate AMD (P0.001) and individuals without AMD (P0.001). A higher proportion of pathogenic variants in the CFH (odds ratio [OR] = 2.88; P = 0.006), CFI (OR = 4.45; P = 0.005), and C3 (OR = 6.56; P = 0.0003) genes was observed in late AMD patients compared with control individuals. In 9 patients, we identified pathogenic variants in the PRPH2, ABCA4, and CTNNA1 genes, which allowed reclassification of these patients as having inherited macular dystrophy.This study reports a genotype assay for common and rare AMD genetic variants, which can identify individuals at intermediate to high genetic risk of late AMD and enables differential diagnosis of AMD-mimicking dystrophies. Our study supports sequencing of CFH, CFI, and C3 genes because they harbor rare high-risk variants. Carriers of these variants could be amendable for new treatments for AMD that currently are under development.
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- 2020
33. Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia
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Colijn, J. M., Verzijden, T., Meester-Smoor, M. A., Klaver, C. C. W., Demirkan, A., Ahmad, S., van Duijn, C. M., den Hollander, A. I., Kersten, E., Hoyng, C. B., Cougnard-Gregoire, A., Merle, B. M. J., Korobelnik, J. -F., Delcourt, C., Papageorgiou, G., Mulder, M. T., Costa, M. A., Silva, R., Benlian, P., Bertelsen, G., Bron, A. M., Creuzot-Garcher, C., Claes, B., Hense, H. -W., Erke, M. G., Fauser, S., Foster, P. J., Khawaja, A. P., Hammond, C. J., Williams, K. M., Piermarocchi, S., Segato, T., Souied, E. H., Acar, N., Altay, L., Anastosopoulos, E., Azuara-Blanco, A., Berendschot, T., Bergen, A., Binquet, C., Bird, A., Bobak, M., Larsen, M. B., Boon, C., Bourne, R., Bretillon, L., Broe, R., Bron, A., Buitendijk, G., Cachulo, M. L., Capuano, V., Carriere, I., Chakravarthy, U., Chan, M., Chang, P., Colijn, J., Cree, A., Cumberland, P., Cunha-Vaz, J., Daien, V., De Jong, E., Deak, G., Delyfer, M. -N., Hollander, A. D., Dietzel, M., Faria, P., Farinha, C., Finger, R., Fletcher, A., Foster, P., Founti, P., Gorgels, T., Grauslund, J., Grus, F., Hammond, C., Heesterbeek, T., Hermann, M., Hoehn, R., Hogg, R., Holz, F., Hoyng, C., Jansonius, N., Janssen, S., de Jong, E., Khawaja, A., Klaver, C., Lamparter, J., Le Goff, M., Lehtimaki, T., Leung, I., Lotery, A., Mauschitz, M., Meester, M., Merle, B., Meyer zu Westrup, V., Midena, E., Miotto, S., Mirshahi, A., Mohan-Said, S., Mueller, M., Muldrew, A., Murta, J., Nickels, S., Nunes, S., Owen, C., Peto, T., Pfeiffer, N., Prokofyeva, E., Rahi, J., Raitakari, O., Rauscher, F., Ribeiro, L., Rougier, M. -B., Rudnicka, A., Randjvar, Sahel, Salonikiou, A., Sanchez, C., Schick, T., Schmitz-Valckenberg, S., Schuster, A., Schweitzer, C., Shehata, J., Silvestri, G., Simader, C., Souied, E., Speckauskas, M., Springelkamp, H., Tapp, R., Topouzis, F., van Leeuwen, E., Verhoeven, V., Vingerling, H., Von Hanno, T., Williams, K., Wolfram, C., Yip, J., Zerbib, J., Ajana, S., Arango-Gonzalez, B., Arndt, V., Bhatia, V., Bhattacharya, S. S., Biarnes, M., Borrell, A., Buhren, S., Calado, S. M., Dammeier, S., de Jong, E. K., De la Cerda, B., Diaz-Corrales, F. J., Diether, S., Emri, E., Endermann, T., Ferraro, L. L., Garcia, M., Heesterbeek, T. J., Honisch, S., Kilger, E., Langen, H., Lengyel, I., Luthert, P., Maugeais, C., Meester-Smoor, M., Merle Inserm, B. M. J., Mones, J., Nogoceke, E., Pool, F. M., Rodriguez, E., Ueffing, M., Ulrich Bartz-Schmidt, K. U., van Leeuwen, E. M., and Zumbansen, M.
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Male ,Magnetic Resonance Spectroscopy ,HDL ,genetic structures ,European Continental Ancestry Group ,Polymorphism, Single Nucleotide ,White People ,LDL ,Macular Degeneration ,Risk Factors ,80 and over ,Odds Ratio ,Humans ,Metabolomics ,European Union ,Polymorphism ,Triglycerides ,Aged ,Aged, 80 and over ,Cholesterol, HDL ,Single Nucleotide ,Cholesterol, LDL ,Middle Aged ,Lipid Metabolism ,eye diseases ,Cholesterol Ester Transfer Proteins ,Cholesterol ,Cross-Sectional Studies ,lipids (amino acids, peptides, and proteins) ,Female ,sense organs - Abstract
Purpose Genetic and epidemiologic studies have shown that lipid genes and high-density lipoproteins (HDLs) are implicated in age-related macular degeneration (AMD). We studied circulating lipid levels in relationship to AMD in a large European dataset. Design Pooled analysis of cross-sectional data. Participants Individuals (N = 30 953) aged 50 years or older participating in the European Eye Epidemiology (E3) consortium and 1530 individuals from the Rotterdam Study with lipid subfraction data. Methods AMD features were graded on fundus photographs using the Rotterdam classification. Routine blood lipid measurements, genetics, medication, and potential confounders were extracted from the E3 database. In a subgroup of the Rotterdam Study, lipid subfractions 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 associations. Main Outcome Measures AMD features and stage; lipid measurements. Results HDL was associated with an increased risk of AMD (odds ratio [OR], 1.21 per 1-mmol/l increase; 95% confidence interval [CI], 1.14–1.29), whereas triglycerides were associated with a decreased risk (OR, 0.94 per 1-mmol/l increase; 95% CI, 0.91–0.97). Both were associated with drusen size. Higher HDL raised the odds of larger drusen, whereas higher triglycerides decreases the odds. LDL cholesterol reached statistical significance only in the association with early AMD (P = 0.045). Regarding lipid subfractions, the concentration of extra-large HDL particles showed the most prominent association with AMD (OR, 1.24; 95% CI, 1.10–1.40). The cholesteryl ester transfer protein risk variant (rs17231506) for AMD was in line with increased HDL levels (P = 7.7 × 10–7), but lipase C risk variants (rs2043085, rs2070895) were associated in an opposite way (P = 1.0 × 10–6 and P = 1.6 × 10–4). Conclusions Our study suggested that HDL cholesterol is associated with increased risk of AMD and that triglycerides are negatively associated. Both show the strongest association with early AMD and drusen. Extra-large HDL subfractions seem to be drivers in the relationship with AMD, and 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 to be answered.
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- 2018
34. Chronic central serous chorioretinopathy is associated with genetic variants implicated in age-related macular degeneration
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Bjorn Bakker, Carel B. Hoyng, Anneke I. den Hollander, Jan E.E. Keunen, Eiko K. de Jong, Jacqueline K. Mohr, Myrte B. Breukink, Rosa L. Schellevis, Camiel J. F. Boon, and Sascha Fauser
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Adult ,Indocyanine Green ,Male ,Oncology ,medicine.medical_specialty ,Genotyping Techniques ,Sensory disorders Radboud Institute for Health Sciences [Radboudumc 12] ,Single-nucleotide polymorphism ,Multimodal Imaging ,Polymorphism, Single Nucleotide ,Macular Degeneration ,Young Adult ,Gene Frequency ,Internal medicine ,medicine ,Humans ,SNP ,Fluorescein Angiography ,Allele ,Coloring Agents ,Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12] ,Allele frequency ,Genetic Association Studies ,Aged ,Aged, 80 and over ,Genetics ,business.industry ,Haplotype ,Case-control study ,Proteins ,Middle Aged ,eye diseases ,Ophthalmoscopy ,Minor allele frequency ,Ophthalmology ,Central Serous Chorioretinopathy ,Case-Control Studies ,Complement Factor H ,Chronic Disease ,Female ,sense organs ,business ,Tomography, Optical Coherence - Abstract
Purpose In this study, single nucleotide polymorphisms (SNPs) at 19 loci, previously associated with age-related macular degeneration (AMD), were systematically tested for association in patients with chronic central serous chorioretinopathy (cCSC). In addition, we evaluated the effect of detailed phenotyping on these genetic associations. Design Case-control study. Participants We included 292 cCSC patients, 1147 AMD patients, and 1311 control individuals. Methods We genotyped SNPs at 19 AMD-associated loci and 6 additional SNPs at the complement factor H ( CFH ) locus. Phenotyping of all patients was based on fundoscopy, spectral-domain optical coherence tomography, fluorescein angiography (FA), and indocyanine green angiography. Main Outcome Measures We measured the allele frequencies of 25 AMD-associated SNPs and CFH haplotype frequencies in patients with cCSC and the effect of phenotypic subdivision of cCSC on genetic associations. Results One SNP in ARMS2 (rs10490924) was significant after Bonferroni correction ( P unadjusted = 0.002; odds ratio [OR] = 0.64). The SNPs at 3 other AMD loci ( CFH , TNFRSF10A , ADAMTS9 ) showed a trend toward association with typical cCSC. Further analysis of the CFH locus identified 2 SNPs that significantly conferred increased risk for cCSC and 1 that was protective. The CFH- H3 haplotype was also found to be protective ( P = 0.01; OR = 0.54). Using multimodal imaging, 197 patients were classified as having typical cCSC, 52 patients had unilateral abnormalities on FA that were otherwise typical of cCSC, and 43 patients had a clinical picture that could be compatible with cCSC, but with features that could also indicate other macular diseases. Significant differences of the minor allele frequencies of the tested SNPs were observed between these 3 phenotypic subgroups. Conclusions Chronic CSC is associated with genetic variants in ARMS2 and CFH, indicating a genetic and pathophysiologic overlap between cCSC and AMD. Intriguingly, alleles in ARMS2 and CFH that confer risk of AMD may be protective for cCSC, and alleles in CFH that are protective for AMD confer risk for cCSC. Significant differences in allele frequencies were found among the phenotypic subgroups for several SNPs, illustrating the importance of correct clinical classification.
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- 2015
35. Genome-Wide Association Study Reveals Variants in CFH and CFHR4 Associated with Systemic Complement Activation: Implications in Age-Related Macular Degeneration
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Laura, Lorés-Motta, Constantin C, Paun, Jordi, Corominas, Marc, Pauper, Maartje J, Geerlings, Lebriz, Altay, Tina, Schick, Mohamed R, Daha, Sascha, Fauser, Carel B, Hoyng, Anneke I, den Hollander, and Eiko K, de Jong
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Aged, 80 and over ,Male ,Genotyping Techniques ,Cholesterol, HDL ,Complement C3 ,Middle Aged ,Polymorphism, Single Nucleotide ,Macular Degeneration ,Apolipoproteins ,Haplotypes ,Complement C3d ,Complement Factor H ,Humans ,Female ,Complement Activation ,Triglycerides ,Aged ,Genome-Wide Association Study - Abstract
To identify genetic variants associated with complement activation, which may help to select age-related macular degeneration (AMD) patients for complement-inhibiting therapies.Genome-wide association study (GWAS) followed by replication and meta-analysis.AMD patients and controls (n = 2245).A GWAS on serum C3d-to-C3 ratio was performed in 1548 AMD patients and controls. For replication and meta-analysis, 697 additional individuals were genotyped. A model for complement activation including genetic and non-genetic factors was built, and the variance explained was estimated. Haplotype analysis was performed for 8 SNPs across the CFH/CFHR locus. Association with AMD was performed for the variants and haplotypes found to influence complement activation.Normalized C3d/C3 ratio as a measure of systemic complement activation.Complement activation was associated independently with rs3753396 located in CFH (PThe SNP rs3753396 in CFH and SNP rs6685931 in CFHR4 are associated with systemic complement activation levels. The SNP rs6685931 in CFHR4 and its linked haplotype H1-2 also conferred a risk for AMD development, and therefore could be used to identify AMD patients who would benefit most from complement-inhibiting therapies.
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- 2017
36. Prevalence of Age-Related Macular Degeneration in Europe
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Colijn, Johanna M., primary, Buitendijk, Gabriëlle H.S., additional, Prokofyeva, Elena, additional, Alves, Dalila, additional, Cachulo, Maria L., additional, Khawaja, Anthony P., additional, Cougnard-Gregoire, Audrey, additional, Merle, Bénédicte M.J., additional, Korb, Christina, additional, Erke, Maja G., additional, Bron, Alain, additional, Anastasopoulos, Eleftherios, additional, Meester-Smoor, Magda A., additional, Segato, Tatiana, additional, Piermarocchi, Stefano, additional, de Jong, Paulus T.V.M., additional, Vingerling, Johannes R., additional, Topouzis, Fotis, additional, Creuzot-Garcher, Catherine, additional, Bertelsen, Geir, additional, Pfeiffer, Norbert, additional, Fletcher, Astrid E., additional, Foster, Paul J., additional, Silva, Rufino, additional, Korobelnik, Jean-François, additional, Delcourt, Cécile, additional, Klaver, Caroline C.W., additional, Ajana, Soufiane, additional, Arango-Gonzalez, Blanca, additional, Arndt, Verena, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Bühren, Sebastian, additional, Calado, Sofia M., additional, Colijn, Johanna M., additional, Cougnard-Grégoire, Audrey, additional, Dammeier, Sascha, additional, de Jong, Eiko K., additional, De la Cerda, Berta, additional, den Hollander, Anneke I., additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Heesterbeek, Thomas J., additional, Honisch, Sabina, additional, Hoyng, Carel B., additional, Kersten, Eveline, additional, Kilger, Ellen, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Maugeais, Cyrille, additional, Meester-Smoor, Magda, additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Pool, Frances M., additional, Rodríguez, Eduardo, additional, Ueffing, Marius, additional, Ulrich Bartz-Schmidt, Karl U., additional, van Leeuwen, Elisabeth M., additional, Verzijden, Timo, additional, Zumbansen, Markus, additional, Acar, Niyazi, additional, Anastosopoulos, Eleftherios, additional, Azuara-Blanco, Augusto, additional, Bergen, Arthur, additional, Binquet, Christine, additional, Bird, Alan, additional, Brétillon, Lionel, additional, Buitendijk, Gabrielle, additional, Cachulo, Maria Luz, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Chang, Petrus, additional, Colijn, Johanna, additional, Cumberland, Philippa, additional, Cunha-Vaz, José, additional, Daien, Vincent, additional, Deak, Gabor, additional, Delyfer, Marie-Noëlle, additional, den Hollander, Anneke, additional, Dietzel, Martha, additional, Erke, Maja Gran, additional, Fauser, Sascha, additional, Finger, Robert, additional, Fletcher, Astrid, additional, Foster, Paul, additional, Founti, Panayiota, additional, Göbel, Arno, additional, Gorgels, Theo, additional, Grauslund, Jakob, additional, Grus, Franz, additional, Hammond, Christopher, additional, Helmer, Catherine, additional, Hense, Hans-Werner, additional, Hermann, Manuel, additional, Hoehn, René, additional, Hogg, Ruth, additional, Holz, Frank, additional, Hoyng, Carel, additional, Jansonius, Nomdo, additional, Janssen, Sarah, additional, Khawaja, Anthony, additional, Klaver, Caroline, additional, Lamparter, Julia, additional, Le Goff, Mélanie, additional, Leal, Sergio, additional, Lechanteur, Yara, additional, Lehtimäki, Terho, additional, Lotery, Andrew, additional, Leung, Irene, additional, Mauschitz, Matthias, additional, Merle, Bénédicte, additional, Meyer zu Westrup, Verena, additional, Midena, Edoardo, additional, Miotto, Stefania, additional, Mirshahi, Alireza, additional, Mohan-Saïd, Sadek, additional, Mueller, Michael, additional, Muldrew, Alyson, additional, Nunes, Sandrina, additional, Oexle, Konrad, additional, Rahi, Jugnoo, additional, Raitakari, Olli, additional, Ribeiro, Luisa, additional, Rougier, Marie-Bénédicte, additional, Sahel, José, additional, Salonikiou, Aggeliki, additional, Sanchez, Clarisa, additional, Schmitz-Valckenberg, Steffen, additional, Schweitzer, Cédric, additional, Shehata, Jasmin, additional, Silvestri, Giuliana, additional, Simader, Christian, additional, Souied, Eric, additional, Springelkamp, Henriet, additional, Tapp, Robyn, additional, Verhoeven, Virginie, additional, Von Hanno, Therese, additional, Vujosevic, Stela, additional, Williams, Katie, additional, Wolfram, Christian, additional, Yip, Jennifer, additional, Zerbib, Jennyfer, additional, and Zwiener, Isabella, additional
- Published
- 2017
- Full Text
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37. Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration
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Colijn, Johanna M., primary, den Hollander, Anneke I., additional, Demirkan, Ayse, additional, Cougnard-Grégoire, Audrey, additional, Verzijden, Timo, additional, Kersten, Eveline, additional, Meester-Smoor, Magda A., additional, Merle, Benedicte M.J., additional, Papageorgiou, Grigorios, additional, Ahmad, Shahzad, additional, Mulder, Monique T., additional, Costa, Miguel Angelo, additional, Benlian, Pascale, additional, Bertelsen, Geir, additional, Bron, Alain M., additional, Claes, Birte, additional, Creuzot-Garcher, Catherine, additional, Erke, Maja Gran, additional, Fauser, Sascha, additional, Foster, Paul J., additional, Hammond, Christopher J., additional, Hense, Hans-Werner, additional, Hoyng, Carel B., additional, Khawaja, Anthony P., additional, Korobelnik, Jean-Francois, additional, Piermarocchi, Stefano, additional, Segato, Tatiana, additional, Silva, Rufino, additional, Souied, Eric H., additional, Williams, Katie M., additional, van Duijn, Cornelia M., additional, Delcourt, Cécile, additional, Klaver, Caroline C.W., additional, Acar, Niyazi, additional, Altay, Lebriz, additional, Anastosopoulos, Eleftherios, additional, Azuara-Blanco, Augusto, additional, Berendschot, Tos, additional, Bergen, Arthur, additional, Binquet, Christine, additional, Bird, Alan, additional, Bobak, Martin, additional, Larsen, Morten Bøgelund, additional, Boon, Camiel, additional, Bourne, Rupert, additional, Brétillon, Lionel, additional, Broe, Rebecca, additional, Bron, Alain, additional, Buitendijk, Gabrielle, additional, Cachulo, Maria Luz, additional, Capuano, Vittorio, additional, Carrière, Isabelle, additional, Chakravarthy, Usha, additional, Chan, Michelle, additional, Chang, Petrus, additional, Colijn, Johanna, additional, Cree, Angela, additional, Cumberland, Phillippa, additional, Cunha-Vaz, José, additional, Daien, Vincent, additional, De Jong, Eiko, additional, Deak, Gabor, additional, Delyfer, Marie-Noëlle, additional, Hollander, Anneke den, additional, Dietzel, Martha, additional, Faria, Pedro, additional, Farinha, Claudia, additional, Finger, Robert, additional, Fletcher, Astrid, additional, Foster, Paul, additional, Founti, Panayiota, additional, Gorgels, Theo, additional, Grauslund, Jakob, additional, Grus, Franz, additional, Hammond, Christopher, additional, Heesterbeek, Thomas, additional, Hermann, Manuel, additional, Hoehn, René, additional, Hogg, Ruth, additional, Holz, Frank, additional, Hoyng, Carel, additional, Jansonius, Nomdo, additional, Janssen, Sarah, additional, de Jong, Eiko, additional, Khawaja, Anthony, additional, Klaver, Caroline, additional, Korobelnik, Jean-François, additional, Lamparter, Julia, additional, Le Goff, Mélanie, additional, Lehtimäki, Terho, additional, Leung, Irene, additional, Lotery, Andrew, additional, Mauschitz, Matthias, additional, Meester, Magda, additional, Merle, Bénédicte, additional, Meyer zu Westrup, Verena, additional, Midena, Edoardo, additional, Miotto, Stefania, additional, Mirshahi, Alireza, additional, Mohan-Saïd, Sadek, additional, Mueller, Michael, additional, Muldrew, Alyson, additional, Murta, Joaquim, additional, Nickels, Stefan, additional, Nunes, Sandrina, additional, Owen, Christopher, additional, Peto, Tunde, additional, Pfeiffer, Norbert, additional, Prokofyeva, Elena, additional, Rahi, Jugnoo, additional, Raitakari, Olli, additional, Rauscher, Franziska, additional, Ribeiro, Luisa, additional, Rougier, Marie-Bénédicte, additional, Rudnicka, Alicja, additional, Sahel, José, additional, Salonikiou, Aggeliki, additional, Sanchez, Clarisa, additional, Schick, Tina, additional, Schmitz-Valckenberg, Steffen, additional, Schuster, Alexander, additional, Schweitzer, Cédric, additional, Shehata, Jasmin, additional, Silvestri, Giuliana, additional, Simader, Christian, additional, Souied, Eric, additional, Speckauskas, Martynas, additional, Springelkamp, Henriet, additional, Tapp, Robyn, additional, Topouzis, Fotis, additional, van Leeuwen, Elisa, additional, Verhoeven, Virginie, additional, Vingerling, Hans, additional, Von Hanno, Therese, additional, Williams, Katie, additional, Wolfram, Christian, additional, Yip, Jennifer, additional, Zerbib, Jennyfer, additional, Ajana, Soufiane, additional, Arango-Gonzalez, Blanca, additional, Arndt, Verena, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Bühren, Sebastian, additional, Calado, Sofia M., additional, Colijn, Johanna M., additional, Dammeier, Sascha, additional, de Jong, Eiko K., additional, De la Cerda, Berta, additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Heesterbeek, Thomas J., additional, Honisch, Sabina, additional, Kilger, Ellen, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Maugeais, Cyrille, additional, Meester-Smoor, Magda, additional, Merle Inserm, Bénédicte M.J., additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Pool, Frances M., additional, Rodríguez, Eduardo, additional, Ueffing, Marius, additional, Ulrich Bartz-Schmidt, Karl U., additional, van Leeuwen, Elisabeth M., additional, and Zumbansen, Markus, additional
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- 2019
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38. Mediterranean Diet and Incidence of Advanced Age-Related Macular Degeneration
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Merle, Bénédicte M.J., primary, Colijn, Johanna M., additional, Cougnard-Grégoire, Audrey, additional, de Koning-Backus, Alexandra P.M., additional, Delyfer, Marie-Noëlle, additional, Kiefte-de Jong, Jessica C., additional, Meester-Smoor, Magda, additional, Féart, Catherine, additional, Verzijden, Timo, additional, Samieri, Cécilia, additional, Franco, Oscar H., additional, Korobelnik, Jean-François, additional, Klaver, Caroline C.W., additional, Delcourt, Cécile, additional, Ajana, Soufiane, additional, Arango-Gonzalez, Blanca, additional, Armento, Angela, additional, Arndt, Verena, additional, Bhatia, Vaibhav, additional, Bhattacharya, Shomi S., additional, Biarnés, Marc, additional, Borrell, Anna, additional, Bühren, Sebastian, additional, Calado, Sofia M., additional, Dammeier, Sascha, additional, de Jong, Eiko K., additional, De la Cerda, Berta, additional, den Hollander, Anneke I., additional, Diaz-Corrales, Francisco J., additional, Diether, Sigrid, additional, Emri, Eszter, additional, Endermann, Tanja, additional, Ferraro, Lucia L., additional, Garcia, Míriam, additional, Heesterbeek, Thomas J., additional, Honisch, Sabina, additional, Hoyng, Carel B., additional, Kersten, Eveline, additional, Kilger, Ellen, additional, Langen, Hanno, additional, Lengyel, Imre, additional, Luthert, Phil, additional, Maugeais, Cyrille, additional, Merle, Bénédicte M.J., additional, Monés, Jordi, additional, Nogoceke, Everson, additional, Peto, Tunde, additional, Pool, Frances M., additional, Rodríguez, Eduardo, additional, Ueffing, Marius, additional, Ulrich Bartz-Schmidt, Karl U., additional, van Leeuwen, Elisabeth M., additional, Zumbansen, Markus, additional, and Vasiliev, Vassil, additional
- Published
- 2019
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39. Cumulative effect of risk alleles in CFH, ARMS2, and VEGFA on the response to ranibizumab treatment in age-related macular degeneration
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Bernd Kirchhof, Johannes P. H. van de Ven, Carel B. Hoyng, Robert K. Koenekoop, Amer Omar, Dzenita Smailhodzic, Alice Yang Zhang, Sascha Fauser, Anneke I. den Hollander, Angela Kwestro, Philipp S. Muether, John C. Chen, Jan E.E. Keunen, and B. Jeroen Klevering
- Subjects
Male ,Vascular Endothelial Growth Factor A ,medicine.medical_specialty ,Genotype ,genetic structures ,Visual Acuity ,Angiogenesis Inhibitors ,Single-nucleotide polymorphism ,Antibodies, Monoclonal, Humanized ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,Cohort Studies ,Risk Factors ,Ranibizumab ,Ophthalmology ,Evaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2] ,medicine ,Humans ,Age of Onset ,Fluorescein Angiography ,Alleles ,Aged ,Aged, 80 and over ,business.industry ,Standard treatment ,Proteins ,Diabetic retinopathy ,Middle Aged ,Macular degeneration ,medicine.disease ,Vascular Endothelial Growth Factor Receptor-2 ,Frizzled Receptors ,eye diseases ,Low Density Lipoprotein Receptor-Related Protein-5 ,Pharmacogenetics ,Complement Factor H ,Intravitreal Injections ,Wet Macular Degeneration ,Female ,sense organs ,Age of onset ,business ,Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6] ,Tomography, Optical Coherence ,Cohort study ,medicine.drug - Abstract
Item does not contain fulltext PURPOSE: Intravitreal ranibizumab injections currently are the standard treatment for neovascular age-related macular degeneration (AMD). However, a broad range of response rates have been observed, the reasons for which are poorly understood. This pharmacogenetic study evaluated the impact of high-risk alleles in CFH, ARMS2, VEGFA, vascular endothelial growth factor (VEGF) receptor KDR, and genes involved in angiogenesis (LRP5, FZD4) on the response to ranibizumab treatment and on the age of treatment onset. In contrast to previous studies, the data were stratified according to the number of high-risk alleles to enable the study of the combined effects of these genotypes on the treatment response. DESIGN: Case series study. PARTICIPANTS: A cohort of 420 eyes of 397 neovascular AMD patients. METHODS: The change in visual acuity (VA) between baseline and after 3 ranibizumab injections was calculated. Genotyping of single nucleotide polymorphisms in the CFH, ARMS2, VEGFA, KDR, LPR5, and FZD4 genes was performed. Associations were assessed using linear mixed models. MAIN OUTCOME MEASURES: The VA change after 3 ranibizumab injections and the age of neovascular disease onset. RESULTS: After ranibizumab treatment, AMD patients without risk alleles in the CFH and ARMS2 genes (4.8%) demonstrated a mean VA improvement of 10 Early Treatment Diabetic Retinopathy Study (ETDRS) letters, whereas no VA improvement was observed in AMD patients with 4 CFH and ARMS2 risk alleles (6.9%; P = 0.014). Patients with 4 high-risk alleles in CFH and ARMS2 were 5.2 years younger than patients with 1 or 2 risk alleles, respectively (63.5%; P
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- 2012
40. Reply: To PMID 25267528
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Nicole T M, Saksens, Ramon A C, van Huet, Janneke J C, van Lith-Verhoeven, Anneke I, den Hollander, Carel B, Hoyng, and Camiel J F, Boon
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Male ,Humans ,Female ,Macular Edema - Published
- 2015
41. Reply
- Author
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Saksens, Nicole T.M., primary, van Huet, Ramon A.C., additional, van Lith-Verhoeven, Janneke J.C., additional, den Hollander, Anneke I., additional, Hoyng, Carel B., additional, and Boon, Camiel J.F., additional
- Published
- 2015
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42. Central areolar choroidal dystrophy
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Frans P.M. Cremers, Thomas Theelen, B. Jeroen Klevering, Anneke I. den Hollander, Marijke N. Zonneveld-Vrieling, Carel B. Hoyng, and Camiel J. F. Boon
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Male ,Genetics and epigenetic pathways of disease [NCMLS 6] ,genetic structures ,DNA Mutational Analysis ,Peripherins ,Retinal Pigment Epithelium ,Polymerase Chain Reaction ,Cone dystrophy ,Intermediate Filament Proteins ,Photography ,Medicine ,Age of Onset ,Fluorescein Angiography ,Color Perception Tests ,Membrane Glycoproteins ,medicine.diagnostic_test ,Retinal Degeneration ,Peripherin ,Middle Aged ,Founder Effect ,Retinal Cone Photoreceptor Cells ,Female ,Tomography, Optical Coherence ,Adult ,medicine.medical_specialty ,Nerve Tissue Proteins ,Polymorphism, Single Nucleotide ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,Ophthalmology ,Electroretinography ,Humans ,Color perception test ,Aged ,Retrospective Studies ,business.industry ,Fundus photography ,Dystrophy ,Choroid Diseases ,Macular degeneration ,medicine.disease ,eye diseases ,Electrooculography ,Haplotypes ,Evaluation of complex medical interventions [NCEBP 2] ,Mutation ,sense organs ,Age of onset ,business ,Follow-Up Studies ,Microsatellite Repeats - Abstract
Objective To describe the clinical characteristics, follow-up data and molecular genetic background in a large group of patients with central areolar choroidal dystrophy (CACD). Design Retrospective case series study. Participants One hundred three patients with CACD from the Netherlands. Methods Ophthalmologic examination, including color vision testing, fundus photography, fluorescein angiography, fundus autofluorescence (FAF) imaging, optical coherence tomography, full-field electroretinography (ERG), multifocal ERG, and electrooculography. Blood samples were obtained for DNA extraction and subsequent analysis of the peripherin/RDS gene, as well as haplotype analysis. Main Outcome Measures Clinical characteristics, phenotypic range, clinical follow-up data, and FAF findings. Results The mean age at onset of visual loss was 46 years, with subsequent gradual deterioration in visual acuity. Ninety-eight patients carried a p.Arg142Trp mutation in peripherin/RDS , whereas 5 affected members of a CACD family carried a p.Arg172Gln peripherin/RDS mutation. A remarkable variation in disease severity was observed, and nonpenetrance was seen up to the age of 64 years, in up to 21% of mutation carriers. However, most macular lesions in mutation carriers displayed a typical stage of CACD. Substantial changes were seen on FAF imaging after a mean follow-up period of 11 months. Electrophysiologic data were consistent with a central cone dystrophy. The age at onset and phenotypic characteristics of CACD show considerable overlap with atrophic age-related macular degeneration (AMD). The great majority of p.Arg142Trp-carrying CACD patients originated from the southeast region of the Netherlands, and haplotype analysis strongly suggested a common founder mutation. Conclusions When caused by a p.Arg142Trp mutation in the peripherin/RDS gene, CACD causes a central cone dystrophy phenotype. This mutation, which most likely originates from a common founder in most patients, is associated with a significant degree of nonpenetrance. In the elderly patient, CACD may be confused with AMD, especially in cases with decreased penetrance. Financial Disclosure(s) The authors have no proprietary or commercial interest in any materials discussed in this article.
- Published
- 2008
43. Reply
- Author
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Nicole T.M. Saksens, J.J. van Lith-Verhoeven, Carel B. Hoyng, R.A.C. van Huet, A.I. den Hollander, and Camiel J. F. Boon
- Subjects
Ophthalmology ,medicine.medical_specialty ,business.industry ,medicine ,medicine.disease ,business ,Macular edema - Published
- 2015
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44. Complement Factor H Gene Mutations: Implications for Genetic Testing and Precision Medicine in Macular Degeneration
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den Hollander, Anneke I., Hoyng, Carel B., and Boon, Camiel J.F.
- Published
- 2019
- Full Text
- View/download PDF
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