170 results on '"Mohand-Saïd, Saddek"'
Search Results
2. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
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Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, Neves, Luiza M., Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, Del Bene, Filippo, and Audo, Isabelle
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- 2024
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3. Development and Validation of a Novel Mobility Test for Rod-Cone Dystrophies: From Reality to Virtual Reality
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Authié, Colas Nils, Poujade, Mylène, Talebi, Alireza, Defer, Alexis, Zenouda, Ariel, Coen, Cécilia, Mohand-Said, Saddek, Chaumet-Riffaud, Philippe, Audo, Isabelle, and Sahel, José-Alain
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- 2024
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4. Pegcetacoplan for the treatment of geographic atrophy secondary to age-related macular degeneration (OAKS and DERBY): two multicentre, randomised, double-masked, sham-controlled, phase 3 trials
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Cole, Abosede O, Gerstenblith, Adam T, Kotagiri, Ajay, Edwards, Albert O, Zambrano, Alberto D, Eaton, Alexander M, Rubowitz, Alexander, Lyon, Alice T, Chiang, Allen, Ho, Allen, Hu, Allen Y, Guerami, Amir H, Dessouki, Amr L, de Carvalho, André Corrêa Maia, Emanuelli, Andrés, Chang, Andrew A, Antoszyk, Andrew N, Francone, Anibal Andrés, Prasad, Anita, Wolf, Armin, Khanani, Arshad M, Abbey, Ashkan Michael, Moulana, Asma, Wihelm, Barbara, Sikorski, Bartosz L, Kuppermann, Baruch D, Wolff, Benjamin, Jewart, Brian H, Do, Brian K, Chan-Kai, Brian T, Mein, Calvin, Hoyng, Carel B, Awh, Carl C, Regillio, Carl, Zeolite, Carlos, Baumal, Caroline R, Creuzot-Garcher, Catherine, Maury, Catherine Français, Wykoff, Charles C, Newell, Charles K, Jhaveri, Chirag, Lohmann, Chris P, Dinah, Christiana B, Ma, Colin, Crawford, Courtney, Parke, D Wilkin, Lavinsky, Daniel, Roth, Daniel, Pieramici, Dante J, Moshfeghi, Darius M, Levin, Darrin, Saperstein, David A, Brown, David, Gaucher, David, Lally, David R, Liao, David S, Brown, David Warren, Goldstein, Debra, Marcus, Dennis, Chan, Derek G, Dhoot, Dilsher, Tacite, Domingo, Zalewski, Dominik, Espana, Edgar M, Lad, Eleonora M, Souied, Eric H, Suan, Eric P, Eting, Eva, Sola, Federico Furno, de Bats, Flore, Bandello, Francesco, Gómez-Ulla, Francisco, Devin, François, Holz, Frank G, Chen, Fred K, Makkouk, Fuad, Dyer, Gawain, Spital, George, Staurenghi, Giovanni, Stoller, Glenn, Cousins, Gwen, Salehi-Had, Hani, Agostini, Hansjürgen, Eleftheriadis, Haralabos, Weiss, Harold, Sultan, Harris C, Massé, Hélène, Pearce, Ian, Dias, Indra, Barbazetto, Irene, Rosenblatt, Irit, Suñer, Ivan J, Kovach, Jaclyn L, Kaluzny, Jakub, Borthwick, James, Howard, James G, Wong, James, Ernest, Jan, Němčanský, Jan, Ysasaga, Jason Edward, Handza, Jason M, Moreno, Javier Antonio Montero, Korobelnik, Jean-François, Heier, Jeffrey S, Arnold, Jennifer J, Brown, Jeremiah, Bafalluy, Joaquin, Pearlman, Joel, Pitcher, John D, Kitchens, John, Carlson, John P, Gilhotra, Jolly, Fein, Jordana, Monés, Jordi M, Luna, José Domingo, Moreno, José María Ruiz, Coney, Joseph M, Sallum, Juliana Maria Ferraz, Olsen, Karl R, Blobner, Katharina, Macoul, Katherine A, Oh, Kean T, Malik, Khurram Javed, Hattenbach, Lars-Olof, Kodjikian, Laurent, Neto, Laurentino Biccas, Singerman, Lawrence J, Altay, Lebriz, Sheck, Leo-H, Feiner, Leonard, Harris, Lindsey D, Chishold, Lionel D, Rao, Llewelyn J, Nehemy, Márcio Bittar, Elizalde, Maria Jose Capella, Gamulescu, Maria-Andreea, Saravia, Mario J, Johnson, Mark W, McKibbin, Martin, Maccumber, Mathew, Vidosevich, Matko, Ohr, Matthew P, Samuel, Michael A, Singer, Michael A, Cassell, Michael, Dollin, Michael, Elman, Michael J, Ip, Michael S, Goldstein, Michaella, Busquets, Miguel, Mititelu, Mihai, Shah, Milan, Veith, Miroslav, Fineman, Mitchell, Varano, Monica, Christmas, Nancy, Steinle, Nathan C, Chaudhry, Nauman, Chinskey, Nicholas D, Eter, Nicole, London, Nikolas J S, Mathalone, Nurit, Schlottmann, Patricio G, Coady, Patrick, Higgins, Patrick M, Raskauskas, Paul A, Yates, Paul A, Bernstein, Paul, Mitchell, Paul, Monsour, Paul, Raphaelian, Paul V, Stanga, Paulo E, Stodulka, Pavel, Issa, Peter Charbel, Pavan, Peter, Ferrone, Phil J, Oleksy, Piotr, Abraham, Prema, Mruthyunjaya, Prithvi, Nguyen, Quan Dong, Reddy, Rahul K, Khurana, Rahul N, Tuli, Raman, Tadayoni, Ramin, Katz, Randy Steven, Arora, Rashi, Schlingemann, Reinier O, Rosen, Richard B, Gale, Richard, Scartozzi, Richard, Isernharge, Ricky, Singh, Rishi P, Stoltz, Robert A, Avery, Robert L, Wirthlin, Robert S, Guymer, Robyn, Goldberg, Roger A, Frenkel, Ronald, Belfort, Rubens Jr, Mohand-Said, Saddek, Grisanti, Salvatore, Razavi, Sam, Fraser-Bell, Samantha, Shah, Sandeep N, Wickremasinghe, Sanjeewa, Haug, Sara Joy, Adrean, Sean D, Priglinger, Siegfried G, Esposti, Simona Degli, Guest, Stephen, Huddleston, Stephen, Itty, Sujit, Moon, Suk Jin, Bhatia, Sumit P, Gupta, Sunil, Patel, Sunil S, Garg, Sunir J, Joshi, Sunir, Nghiem-Buffet, Sylvia, Johnson, T Mark, Jaouni, Tareq, Ach, Thomas, Williams, Thomas R, Sheidow, Thomas, Cleland, Timothy P, You, Timothy T, Peto, Tunde, Konidaris, Vasileios, Gonzalez, Victor H, Korda, Vladimir, Freeman, William R, Bridges, William Z, Barak, Yoreh, Zagorski, Zbigniew, Yehoshua, Zohar, Dubska, Zora, Rosenfeld, Philip J, Guymer, Robyn H, Boyer, David, Grossi, Federico, Korobelnik, Jean-Francois, Slakter, Jason S, Waheed, Nadia K, Metlapally, Ravi, Steinle, Nathan, Francone, Anibal A, Hu, Allen, Deschatelets, Pascal, Francois, Cedric, Bliss, Caleb, Monés, Jordi, and Ribeiro, Ramiro
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- 2023
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5. Faster Sensitivity Loss around Dense Scotomas than for Overall Macular Sensitivity in Stargardt Disease: ProgStar Report No. 14
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Scholl, Hendrik P.N., Strauss, Rupert W., Wolfson, Yulia, Bittencourt, Millena, Shah, Syed Mahmood, Ahmed, Mohamed, Schönbach, Etienne, Fujinami, Kaoru, Traboulsi, Elias, Ehlers, Justis, Marino, Meghan, Crowe, Susan, Briggs, Rachael, Borer, Angela, Pinter, Anne, Fecko, Tami, Burgnoni, Nikki, Sunness, Janet S., Applegate, Carol, Russell, Leslie, Michaelides, Michel, Degli Esposti, Simona, Moore, Anthony, Webster, Andrew, Connor, Sophie, Barnfield, Jade, Salchi, Zaid, Alfageme, Clara, McCudden, Victoria, Pefkianaki, Maria, Aboshiha, Jonathan, Liew, Gerald, Holder, Graham, Robson, Anthony, King, Alexa, Cajas Narvaez, Daniela Ivanova, Barnard, Katy, Grigg, Catherine, Dunbar, Hannah, Obadeyi, Yetunde, Girard-Claudon, Karine, Swann, Hilary, Rughani, Avani, Amoah, Charles, Carrington, Dominic, Bibi, Kanom, Ting, Emerson, Illiyas, Mohamed Nafaz, Begum, Hamida, Carter, Andrew, Georgiou, Anne, Lewism, Selma, Shaheen, Saddaf, Shinmar, Harpreet, Burton, Linda, Bernstein, Paul, Wegner, Kimberley, Sawyer, Briana Lauren, Carlstrom, Bonnie, Farnsworth, Kellian, Fry, Cyrie, Chandler, Melissa, Jenkins, Glen, Creel, Donnel, Birch, David, Wang, Yi-Zhong, Rodriguez, Luis, Locke, Kirsten, Klein, Martin, Mejia, Paulina, Cideciyan, Artur V., Jacobson, Samuel G., Schwartz, Sharon B., Matsui, Rodrigo, Gruzensky, Michaela, Charng, Jason, Roman, Alejandro J., Zrenner, Eberhart, Nasser, Fadi, Hahn, Gesa Astrid, Wilhelm, Barbara, Peters, Tobias, Beier, Benjamin, Koenig, Tilman, Kramer, Susanne, Sahel, José-Alain, Mohand-Said, Saddek, Audo, Isabelle, Laurent-Coriat, Caroline, Sliesoraityte, Ieva, Zeitz, Christina, Boyard, Fiona, Tran, Minh Ha, Chapon, Mathias, Chaumette, Céline, Amaudruz, Juliette, Ganem, Victoria, Sancho, Serge, Girmens, Aurore, Wojciechowski, Robert, Khan, Shazia, Emmert, David G., Cain, Dennis, Herring, Mark, Bassinger, Jennifer, Liberto, Lisa, West, Sheila, Ervin, Ann-Margret, Munoz, Beatriz, Kong, Xiangrong, Dreger, Kurt, Jones, Jennifer, Sadda, Srinivas, Ip, Michael S., Jha, Anamika, Ho, Alex, Kramer, Brendan, Lam, Ngoc, Tawdros, Rita, Zhou, Yong Dong, Carmona, Johana, Uji, Akihito, Hariri, Amirhossein, Lock, Amy, Elshafei, Anthony, Ganegoda, Anushika, Petrossian, Christine, Jenkins, Dennis, Strnad, Edward, Baghdasaryan, Elmira, Ito, Eric, Samson, Feliz, Blanquel, Gloria, Akil, Handan, Melendez, Jhanisus, Lei, Jianqin, Huang, Jianyan, Chau, Jonathan, Falavarjani, Khalil G., Espino, Kristina, Li, Manfred, Mendoza, Maria, Nittala, Muneeswar Gupta, Roded, Netali, Saleh, Nizar, Huang, Ping, Pitetta, Sean, Balasubramanian, Siva, Leahy, Sophie, Srinivas, Sowmya J., Velaga, Swetha B., Margaryan, Teresa, Tepelus, Tudor, Brown, Tyler, Fan, Wenying, Murillo, Yamileth, Shi, Yue, Aguilar, Katherine, Chan, Cynthia, Santos, Lisa, Seo, Brian, Sison, Christopher, Perez, Silvia, Chao, Stephanie, Miyasato, Kelly, Higgins, Julia, Luna, Zoila, Menchaca, Anita, Gonzalez, Norma, Robledo, Vicky, Carig, Karen, Baker, Kirstie, Ellenbogen, David, Bluemel, Daniel, Sanford, Theo, Linares, Daisy, Tran, Mei, Nava, Lorane, Oberoi, Michelle, Romero, Mark, Chiguil, Vivian, Bynum-Bain, Grantley, Kim, Monica, Mendiguren, Carolina, Huang, Xiwen, Smith, Monika, Sarreal, Natalie, Schönbach, Etienne M., Ibrahim, Mohamed A., Janes, Jessica L., Birch, David G., Muñoz, Beatriz, and Sadda, SriniVas R.
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- 2020
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6. Author Correction: The development of white matter structural changes during the process of deterioration of the visual field
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Hofstetter, Shir, Sabbah, Norman, Mohand-Saïd, Saddek, Sahel, José-Alain, Habas, Christophe, Safran, Avinoam B., and Amedi, Amir
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- 2021
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7. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
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Gabrielle, Pierre-Henry, Faivre, Laurence, Audo, Isabelle, Zanlonghi, Xavier, Dollfus, Hélène, Thiadens, Alberta A. H. J., Zeitz, Christina, Mancini, Grazia M. S., Perdomo, Yaumara, Mohand-Saïd, Saddek, Lizé, Eléonore, Lhussiez, Vincent, Nandrot, Emeline F., Acar, Niyazi, Creuzot-Garcher, Catherine, Sahel, José-Alain, Ansar, Muhammad, Thauvin-Robinet, Christel, Duplomb, Laurence, and Da Costa, Romain
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- 2021
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8. Vision-Related Quality of Life in Patients with Diabetic Macular Edema Treated with Intravitreal Aflibercept: The AQUA Study
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Adan, Alfredo, Alexik, Mikulas, Ali, Fareed, Amaro, Miguel, Balciuniene, Vilma-Jurate, Bandello, Francesco M., Arias Barquet, Lluis, Beck, Anna, Bell, Katharina, Boscia, Francesco, Bures, Anniken, Carneiro, Ângela, Chow, David R., Cimbalas, Andrius, Dahlke, Claudia, Deepali, Varma, Dickinson, John D., Dollin, Michael, Eandi, Chiara, Emmerich, Karl-Heinz, Feltgen, Nicolas, Pereira Figueira, João, Findl, Oliver, Gajdošová, Monika, Gale, Richard P., John Galic, Ivan, Garweg, Justus, Gasser-Steiner, Vanessa, Giunta, Michel, Gonder, John R., Grzybowski, Andrzej, Hamouz, Jan, Hattenbach, Lars-Olof, Holz, Frank G., Jesia, Hasan, Kaluzny, Jozef, Kerenyi, Agnes, Kertes, Peter J., Koch, Frank, Kodjikan, Laurent, Lederer, David E., Liehneova, Ivana, Lorenz, Katrin, Lotery, Andrew J., McKibbin, Martin, Menon, Geeta V., Michalewska, Zofia, Midena, Edoardo, Nicolo, Massimo, Papp, Andras, Pavlovičová, Gabriela, Peiretti, Enrico, Vaz-Pereira, Sara, Perri, Paolo, Petropoulos, Ioannis, Queguiner, Frederic, Raczynska, Krystyna, Sararols-Ramsay, Laura, Rękas, Marek, Ricci, Federico, Romanowska-Dixon, Bozena, Sachs, Helmut G., Mohand-Said, Saddek, Sandner, Dirk, Schmidt-Erfurth, Ursula, Sekundo, Walter, Seres, Andras, Sivaprasad, Sobha, Souied, Eric, Castro de Sousa, João, Stankiewicz, Andrzej, Štefaničková, Jana, Struhárová, Katarína, Studnicka, Jan, Cervera Taulet, Enrique, Taylor, Simon, Teper, Slawomir, Vajas, Attila, Cava Valenciano, Carlos, Varsányi, Balázs, Viola, Francesco, Virgili, Gianni, Wagenfeld, Lars, Walters, Gavin, Wiedemann, Peter, Zarnowski, Tomasz, Garweg, Justus G., Stefanickova, Jana, Hoyng, Carel, Schmelter, Thomas, Niesen, Tobias, and Sowade, Olaf
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- 2019
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9. Adapted Surgical Procedure for Argus II Retinal Implantation: Feasibility, Safety, Efficiency, and Postoperative Anatomic Findings
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Delyfer, Marie-Noëlle, Gaucher, David, Govare, Marc, Cougnard-Grégoire, Audrey, Korobelnik, Jean-François, Ajana, Soufiane, Mohand-Saïd, Saddek, Ayello-Scheer, Sarah, Rezaiguia-Studer, Fouzia, Dollfus, Hélène, Sahel, José-Alain, and Barale, Pierre-Olivier
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- 2018
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10. Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
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Stingl, Katarina, Kurtenbach, Anne, Hahn, Gesa, Kernstock, Christoph, Hipp, Stephanie, Zobor, Ditta, Kohl, Susanne, Bonnet, Crystel, Mohand-Saïd, Saddek, Audo, Isabelle, Fakin, Ana, Hawlina, Marko, Testa, Francesco, Simonelli, Francesca, Petit, Christine, Sahel, Jose-Alain, and Zrenner, Eberhart
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- 2019
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11. Odysight: A Mobile Medical Application Designed for Remote Monitoring—A Prospective Study Comparison with Standard Clinical Eye Tests
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Brucker, Julie, Bhatia, Vinona, Sahel, José-Alain, Girmens, Jean-François, and Mohand-Saïd, Saddek
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- 2019
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12. The development of white matter structural changes during the process of deterioration of the visual field
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Hofstetter, Shir, Sabbah, Norman, Mohand-Saïd, Saddek, Sahel, José-Alain, Habas, Christophe, Safran, Avinoam B., and Amedi, Amir
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- 2019
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13. PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
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Khateb, Samer, Mohand-Saïd, Saddek, Nassisi, Marco, Bonnet, Crystel, Roux, Anne-Françoise, Andrieu, Camille, Antonio, Aline, Condroyer, Christel, Zeitz, Christina, Devisme, Céline, Loundon, Natalie, Marlin, Sandrine, Petit, Christine, Bodaghi, Bahram, Sahel, José-Alain, and Audo, Isabelle
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- 2020
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14. Normal Retina Releases a Diffusible Factor Stimulating Cone Survival in the Retinal Degeneration Mouse
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Mohand-Said, Saddek, Deudon-Combe, Alain, Hicks, David, Simonutti, Manuel, Forster, Valerie, Fintz, Anne-Claire, Leveillard, Thierry, Dreyfus, Henri, and Sahel, Jose-Alain
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- 1998
15. Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy
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Audo, Isabelle, Gocho, Kiyoko, Rossant, Florence, Mohand-Saïd, Saddek, Loquin, Kevin, Bloch, Isabelle, Sahel, José-Alain, and Paques, Michel
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- 2016
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16. Reorganization of early visual cortex functional connectivity following selective peripheral and central visual loss
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Sabbah, Norman, Sanda, Nicolae, Authié, Colas N., Mohand-Saïd, Saddek, Sahel, José-Alain, Habas, Christophe, Amedi, Amir, and Safran, Avinoam B.
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- 2017
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17. Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
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Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin, Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie, Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Lille Neurosciences & Cognition - U 1172 (LilNCog (ex-JPARC)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), CeGaT GmbH, Toxicologie et Génopathies [CHRU Lille], Pôle de Biologie Pathologie Génétique [CHU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Service d'ophtalmologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Service d’Exploration de la Vision et Neuro-ophtalmologie [CHU Lille], Hôpital Roger Salengro [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Ophtalmologie [Rennes], CHU Pontchaillou [Rennes], Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Ophtalmologie [Rennes] = Ophtalmology [Rennes], Institut des Neurosciences de Montpellier (INM), Gestionnaire, HAL Sorbonne Université 5, Service d'Ophtalmologie [CHU Pitié-Salpêtrière], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)
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Adult ,Male ,DNA Copy Number Variations ,Genotype ,QH301-705.5 ,TTLL5 gene ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Article ,Chromosome Breakpoints ,Retinal Dystrophies ,Electroretinography ,large deletion ,Humans ,Computer Simulation ,Genetic Predisposition to Disease ,cone-rod dystrophy ,Biology (General) ,Child ,QD1-999 ,Genetic Association Studies ,Aged ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,novel variants ,Eye Diseases, Hereditary ,Middle Aged ,Chemistry ,Phenotype ,Mutation ,Female ,Carrier Proteins ,Cone-Rod Dystrophies ,early onset severe retinal dystrophy - Abstract
Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of TTLL5. Four adult patients presented either COD or CORD with onset in the late teenage years. The youngest patient had a phenotype of early onset severe retinal dystrophy (EOSRD). Genetic analysis was performed by targeted next generation sequencing of gene panels and assessment of copy number variants (CNV). We identified eight variants, of which six were novel, including two large multiexon deletions in patients with COD or CORD, while the EOSRD patient harboured the novel homozygous p.(Trp640*) variant and three distinct USH2A variants, which might explain the observed rod involvement. Our study highlights the role of TTLL5 in COD/CORD and the importance of large deletions. These findings suggest that COD or CORD patients lacking variants in known genes may harbour CNVs to be discovered in TTLL5, previously undetected by classical sequencing methods. In addition, variable phenotypes in TTLL5-associated patients might be due to the presence of additional gene defects.
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- 2021
18. Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome
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Bujakowska, Kinga M., Zhang, Qi, Siemiatkowska, Anna M., Liu, Qin, Place, Emily, Falk, Marni J., Consugar, Mark, Lancelot, Marie-Elise, Antonio, Aline, Lonjou, Christine, Carpentier, Wassila, Mohand-Saïd, Saddek, den Hollander, Anneke I., Cremers, Frans P.M., Leroy, Bart P., Gai, Xiaowu, Sahel, José-Alain, van den Born, L. Ingeborgh, Collin, Rob W.J., Zeitz, Christina, Audo, Isabelle, and Pierce, Eric A.
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- 2015
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19. Short postural training session improves stability in patients with age-related macular degeneration
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Chatard, Hortense, Tepenier, Laure, Beydoun, Talal, Offret, Olivier, Salah, Sawsen, Sahel, José-Alain, Mohand-Saïd, Saddek, Bucci, Maria Pia, Modèles, Dynamiques, Corpus (MoDyCo), Université Paris Nanterre (UPN)-Centre National de la Recherche Scientifique (CNRS), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], Sorbonne Universités (COMUE), Université Pierre et Marie Curie - Paris 6 (UPMC), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), and MULTON, Baptiste
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older adult ,[SCCO]Cognitive science ,training ,genetic structures ,visual acuity ,compensatory mechanism ,postural stability ,Age-related macular degeneration ,[SCCO] Cognitive science ,sense organs ,postural control ,eye diseases - Abstract
International audience; Objective: To explore the impact of unilateral versus bilateral age-related macular degeneration (AMD) on postural sway using a wavelet analysis, and to examine the effects of short-term postural training on postural stability in subjects with AMD.Methods: This was a cross-sectional study in which 13 subjects with unilateral AMD, 18 subjects with bilateral AMD, and 16 healthy age-matched controls participated in a short postural training session. Postural performance was measured before and after training using a force platform under seven visual conditions. We analyzed the surface area and mean velocity of the center of pressure (CoP), the postural instability index (PII), and the number of falls and collisions during postural training.Results: Bilateral AMD subjects were more unstable than healthy controls, with increased CoP surface area and PII. Visual acuity affected postural sway. After training, all subjects (both AMD and healthy) had improved postural stability.Conclusion: This study confirmed that AMD subjects are more unstable than healthy olderadults, which is most likely because of their poor visual capabilities. A short training session improved postural performance in older adults (both healthy and subjects with AMD), which suggests that these subjects can use compensatory mechanisms for balance control.
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- 2021
20. The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family
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Audo, Isabelle, Bujakowska, Kinga, Orhan, Elise, El Shamieh, Said, Sennlaub, Florian, Guillonneau, Xavier, Antonio, Aline, Michiels, Christelle, Lancelot, Marie-Elise, Letexier, Melanie, Saraiva, Jean-Paul, Nguyen, Hoan, Luu, Tien D., Léveillard, Thierry, Poch, Olivier, Dollfus, Hélène, Paques, Michel, Goureau, Olivier, Mohand-Saïd, Saddek, Bhattacharya, Shomi S., Sahel, José-Alain, and Zeitz, Christina
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- 2014
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21. Extensive myelinated retinal nerve fibres and bilateral foveal hypoplasia: A specific clinical entity.
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Hallali, Gabriel, Loudon, Sjoukje E., Robson, Anthony G., Mohand‐Saïd, Saddek, Zanlonghi, Xavier, Sahel, José‐Alain, Moore, Antony T., and Audo, Isabelle
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FIBERS ,NERVES ,ANISOMETROPIA ,MYOPIA - Abstract
Keywords: amblyopia; extensive myelinated retinal nerve fibres; foveal hypoplasia EN amblyopia extensive myelinated retinal nerve fibres foveal hypoplasia e261 e263 3 02/21/23 20230301 NES 230301 In normal development, myelination of the visual pathway does not extend more distally than the lamina cribrosa. ERNMF bundles surround a pale fovea (blue arrow) and extend around the optic disc. (e2) Vertical OCT scans show bilateral foveal hypoplasia (red arrows). RPE and EZ are not individualized at the temporal edge of the fovea on the right eye (yellow star) and on both edges of the fovea on the left eye (green star). [Extracted from the article]
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- 2023
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22. CRB1 mutations in inherited retinal dystrophies
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Bujakowska, Kinga, Audo, Isabelle, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Léveillard, Thierry, Letexier, Mélanie, Saraiva, Jean-Paul, Lonjou, Christine, Carpentier, Wassila, Sahel, José-Alain, Bhattacharya, Shomi S., and Zeitz, Christina
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- 2012
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23. RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation
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Audo, Isabelle, Mohand-Saïd, Saddek, Dhaenens, Claire-Marie, Germain, Aurore, Orhan, Elise, Antonio, Aline, Hamel, Christian, Sahel, José-Alain, Bhattacharya, Shomi S., and Zeitz, Christina
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- 2012
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24. Novel C2orf71 mutations account for ∽1% of cases in a large French arRP cohort
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Audo, Isabelle, Lancelot, Marie-Elise, Mohand-Saïd, Saddek, Antonio, Aline, Germain, Aurore, Sahel, José-Alain, Bhattacharya, Shomi S, and Zeitz, Christina
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- 2011
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25. An Unusual Retinal Phenotype Associated With a Novel Mutation in RHO
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Audo, Isabelle, Friedrich, Anne, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Poch, Olivier, Bhattacharya, Shomi, Sahel, José-Alain, and Zeitz, Christina
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- 2010
26. EYS Is a Major Gene for Rod-cone Dystrophies in France
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Audo, Isabelle, Sahel, José-Alain, Mohand-Saïd, Saddek, Lancelot, Marie-Elise, Antonio, Aline, Moskova-Doumanova, Veselina, Nandrot, Emeline F., Doumanov, Jordan, Barragan, Isabel, Antinolo, Guillermo, Bhattacharya, Shomi S., and Zeitz, Christina
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- 2010
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27. Improved performance and safety from Argus II retinal prosthesis post‐approval study in France.
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Delyfer, Marie‐Noëlle, Gaucher, David, Mohand‐Saïd, Saddek, Barale, Pierre‐Olivier, Rezaigua‐Studer, Fouzia, Ayello‐Scheer, Sarah, Dollfus, Hélène, Dorn, Jessy D., Korobelnik, Jean‐François, and Sahel, José‐Alain
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ACTIVITIES of daily living ,PROSTHETICS ,RETINITIS pigmentosa ,STANDARDIZED tests ,ENDOPHTHALMITIS - Abstract
Purpose: To evaluate the post‐approval long‐term outcomes of the Argus II Retinal Prosthesis, with a specific focus on its functional visual benefit in patients' daily activities. Methods: Eighteen patients with bare light perception due to end‐stage retinitis pigmentosa were included in a French prospective, multicentre, single‐arm study and followed for 2 years. Visual benefit in patients' daily activities was monitored through the use of the Functional Low‐vision Observer Rated Assessment (FLORA), and the final score at 2 years was the primary effectiveness outcome. Standardized visual assessments were also performed. Device‐ or procedure‐related adverse events were recorded. Results: Seventeen subjects completed the study. Positive impacts of the Argus II system on functional vision and well‐being were demonstrated for over 70% of subjects on the FLORA. Among the daily activities/tasks tested, finding doorways was one of the most statistically significantly improved tasks (p < 0.001), along with estimating the size of an obstacle (p < 0.001), visually locating a place setting on a dining table (p < 0.001) and visually locating people in a non‐crowded setting (p < 0.001). Visual function was improved on most standardized tests. Only two device‐ or procedure‐related serious adverse events were observed (one vitreous haemorrhage and one endophthalmitis, both resolved with treatment). No explantation was required. Conclusion: This first report of a completed post‐approval study of Argus II with a two‐year follow‐up demonstrates the safety and effectiveness of the Argus II System in a real‐world cohort of patients and further highlights its real functional benefit in implanted patients' daily activities. [ABSTRACT FROM AUTHOR]
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- 2021
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28. Management of a case of Enhanced S-cone syndrome with massive foveoschisis treated with pars plana vitrectomy with silicone oil tamponade.
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Bechet, Lorane, Atia, Raphaël, Zeitz, Christina, Mohand-Saïd, Saddek, Sahel, José-Alain, Barale, Pierre-Oliver, and Audo, Isabelle
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PARS plana ,VITRECTOMY ,CARBONIC anhydrase inhibitors ,OPTICAL coherence tomography ,ORAL drug administration - Abstract
Introduction: Goldmann Favre Syndrome (GFS) is a vitreoretinal degenerative disease with macular retinoschisis. The current treatment of foveoschisis is topical and oral carbonic anhydrase inhibitors. Case: A 22-year-old male diagnosed with GFS presented a progressive decrease in vision of the right eye. The optical coherence tomography showed a significant macular schisis. A medical treatment with topical and oral carbonic anhydrase inhibitors was ineffective. We performed a pars plana vitrectomy and silicone oil placement which led to an improvement of the visual acuity and a reduction of the foveoschisis. Conclusion: We describe here the first case of surgical treatment for macular schisis in a patient with GFS. [ABSTRACT FROM AUTHOR]
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- 2021
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29. The aging of the retina
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Bonnel, Sébastien, Mohand-Said, Saddek, and Sahel, José-Alain
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- 2003
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30. CNGB1‐related rod‐cone dystrophy: A mutation review and update.
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Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, and Webster, Andrew R.
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Cyclic nucleotide‐gated channel β1 (CNGB1) encodes the 240‐kDa β subunit of the rod photoreceptor cyclic nucleotide‐gated ion channel. Disease‐causing sequence variants in CNGB1 lead to autosomal recessive rod‐cone dystrophy/retinitis pigmentosa (RP). We herein present a comprehensive review and analysis of all previously reported CNGB1 sequence variants, and add 22 novel variants, thereby enlarging the spectrum to 84 variants in total, including 24 missense variants (two of which may also affect splicing), 21 nonsense, 19 splicing defects (7 at noncanonical positions), 10 small deletions, 1 small insertion, 1 small insertion–deletion, 7 small duplications, and 1 gross deletion. According to the American College of Medical Genetics and Genomics classification criteria, 59 variants were considered pathogenic or likely pathogenic and 25 were variants of uncertain significance. In addition, we provide further phenotypic data from 34 CNGB1‐related RP cases, which, overall, are in line with previous findings suggesting that this form of RP has long‐term retention of useful central vision despite the early onset of night blindness, which is valuable for patient counseling, but also has implications for it being considered a priority target for gene therapy trials. [ABSTRACT FROM AUTHOR]
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- 2021
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31. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
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Audo Isabelle, Bujakowska Kinga M, Léveillard Thierry, Mohand-Saïd Saddek, Lancelot Marie-Elise, Germain Aurore, Antonio Aline, Michiels Christelle, Saraiva Jean-Paul, Letexier Mélanie, Sahel José-Alain, Bhattacharya Shomi S, and Zeitz Christina
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NGS ,retinal disorders ,diagnostic tool. ,Medicine - Abstract
Abstract Background Inherited retinal disorders are clinically and genetically heterogeneous with more than 150 gene defects accounting for the diversity of disease phenotypes. So far, mutation detection was mainly performed by APEX technology and direct Sanger sequencing of known genes. However, these methods are time consuming, expensive and unable to provide a result if the patient carries a new gene mutation. In addition, multiplicity of phenotypes associated with the same gene defect may be overlooked. Methods To overcome these challenges, we designed an exon sequencing array to target 254 known and candidate genes using Agilent capture. Subsequently, 20 DNA samples from 17 different families, including four patients with known mutations were sequenced using Illumina Genome Analyzer IIx next-generation-sequencing (NGS) platform. Different filtering approaches were applied to identify the genetic defect. The most likely disease causing variants were analyzed by Sanger sequencing. Co-segregation and sequencing analysis of control samples validated the pathogenicity of the observed variants. Results The phenotype of the patients included retinitis pigmentosa, congenital stationary night blindness, Best disease, early-onset cone dystrophy and Stargardt disease. In three of four control samples with known genotypes NGS detected the expected mutations. Three known and five novel mutations were identified in NR2E3, PRPF3, EYS, PRPF8, CRB1, TRPM1 and CACNA1F. One of the control samples with a known genotype belongs to a family with two clinical phenotypes (Best and CSNB), where a novel mutation was identified for CSNB. In six families the disease associated mutations were not found, indicating that novel gene defects remain to be identified. Conclusions In summary, this unbiased and time-efficient NGS approach allowed mutation detection in 75% of control cases and in 57% of test cases. Furthermore, it has the possibility of associating known gene defects with novel phenotypes and mode of inheritance.
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- 2012
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32. ℮-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa
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Clérin Emmanuelle, Wicker Nicolas, Mohand-Saïd Saddek, Poch Olivier, Sahel José-Alain, and Léveillard Thierry
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Ophthalmology ,RE1-994 - Abstract
Abstract Background Retinitis pigmentosa is characterized by the sequential loss of rod and cone photoreceptors. The preservation of cones would prevent blindness due to their essential role in human vision. Rod-derived Cone Viability Factor is a thioredoxin-like protein that is secreted by rods and is involved in cone survival. To validate the activity of Rod-derived Cone Viability Factors (RdCVFs) as therapeutic agents for treating retinitis Pigmentosa, we have developed e-conome, an automated cell counting platform for retinal flat mounts of rodent models of cone degeneration. This automated quantification method allows for faster data analysis thereby accelerating translational research. Methods An inverted fluorescent microscope, motorized and coupled to a CCD camera records images of cones labeled with fluorescent peanut agglutinin lectin on flat-mounted retinas. In an average of 300 fields per retina, nine Z-planes at magnification X40 are acquired after two-stage autofocus individually for each field. The projection of the stack of 9 images is subject to a threshold, filtered to exclude aberrant images based on preset variables. The cones are identified by treating the resulting image using 13 variables empirically determined. The cone density is calculated over the 300 fields. Results The method was validated by comparison to the conventional stereological counting. The decrease in cone density in rd1 mouse was found to be equivalent to the decrease determined by stereological counting. We also studied the spatiotemporal pattern of the degeneration of cones in the rd1 mouse and show that while the reduction in cone density starts in the central part of the retina, cone degeneration progresses at the same speed over the whole retinal surface. We finally show that for mice with an inactivation of the Nucleoredoxin-like genes Nxnl1 or Nxnl2 encoding RdCVFs, the loss of cones is more pronounced in the ventral retina. Conclusion The automated platform ℮-conome used here for retinal disease is a tool that can broadly accelerate translational research for neurodegenerative diseases.
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- 2011
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33. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
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Mohand-Saïd Saddek, Bujakowska Kinga, Audo Isabelle, Lancelot Marie-Elise, Moskova-Doumanova Veselina, Waseem Naushin H, Antonio Aline, Sahel José-Alain, Bhattacharya Shomi S, and Zeitz Christina
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Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background Rod-cone dystrophies are heterogeneous group of inherited retinal disorders both clinically and genetically characterized by photoreceptor degeneration. The mode of inheritance can be autosomal dominant, autosomal recessive or X-linked. The purpose of this study was to identify mutations in one of the genes, PRPF31, in French patients with autosomal dominant RP, to perform genotype-phenotype correlations of those patients, to determine the prevalence of PRPF31 mutations in this cohort and to review previously identified PRPF31 mutations from other cohorts. Methods Detailed phenotypic characterization was performed including precise family history, best corrected visual acuity using the ETDRS chart, slit lamp examination, kinetic and static perimetry, full field and multifocal ERG, fundus autofluorescence imaging and optic coherence tomography. For genetic diagnosis, genomic DNA of ninety families was isolated by standard methods. The coding exons and flanking intronic regions of PRPF31 were PCR amplified, purified and sequenced in the index patient. Results We showed for the first time that 6.7% cases of a French adRP cohort have a PRPF31 mutation. We identified in total six mutations, which were all novel and not detected in ethnically matched controls. The mutation spectrum from our cohort comprises frameshift and splice site mutations. Co-segregation analysis in available family members revealed that each index patient and all affected family members showed a heterozygous mutation. In five families incomplete penetrance was observed. Most patients showed classical signs of RP with relatively preserved central vision and visual field. Conclusion Our studies extended the mutation spectrum of PRPF31 and as previously reported in other populations, it is a major cause of adRP in France.
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- 2010
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34. CHM mutation spectrum and disease: An update at the time of human therapeutic trials.
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Zeitz, Christina, Nassisi, Marco, Laurent‐Coriat, Caroline, Andrieu, Camille, Boyard, Fiona, Condroyer, Christel, Démontant, Vanessa, Antonio, Aline, Lancelot, Marie‐Elise, Frederiksen, Helen, Kloeckener‐Gruissem, Barbara, El‐Shamieh, Said, Zanlonghi, Xavier, Meunier, Isabelle, Roux, Anne‐Françoise, Mohand‐Saïd, Saddek, Sahel, José‐Alain, and Audo, Isabelle
- Abstract
Choroideremia is an X‐linked inherited retinal disorder (IRD) characterized by the degeneration of retinal pigment epithelium, photoreceptors, choriocapillaris and choroid affecting males with variable phenotypes in female carriers. Unlike other IRD, characterized by a large clinical and genetic heterogeneity, choroideremia shows a specific phenotype with causative mutations in only one gene, CHM. Ongoing gene replacement trials raise further interests in this disorder. We describe here the clinical and genetic data from a French cohort of 45 families, 25 of which carry novel variants, in the context of 822 previously reported choroideremia families. Most of the variants represent loss‐of‐function mutations with eleven families having large (i.e. ≥6 kb) genomic deletions, 18 small insertions, deletions or insertion deletions, six showing nonsense variants, eight splice site variants and two missense variants likely to affect splicing. Similarly, 822 previously published families carry mostly loss‐of‐function variants. Recurrent variants are observed worldwide, some of which linked to a common ancestor, others arisen independently in specific CHM regions prone to mutations. Since all exons of CHM may harbor variants, Sanger sequencing combined with quantitative polymerase chain reaction or multiplex ligation‐dependent probe amplification experiments are efficient to achieve the molecular diagnosis in patients with typical choroideremia features. [ABSTRACT FROM AUTHOR]
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- 2021
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35. WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy.
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Solaguren‐Beascoa, Maria, Bujakowska, Kinga M., Méjécase, Cécile, Emmenegger, Lisa, Orhan, Elise, Neuillé, Marion, Mohand‐Saïd, Saddek, Condroyer, Christel, Lancelot, Marie‐Elise, Michiels, Christelle, Demontant, Vanessa, Antonio, Aline, Letexier, Mélanie, Saraiva, Jean‐Paul, Lonjou, Christine, Carpentier, Wassila, Léveillard, Thierry, Pierce, Eric A., Dollfus, Hélène, and Sahel, José‐Alain
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HOMOZYGOSITY ,DYSTROPHY ,RETINITIS pigmentosa ,RETINAL degeneration ,GENES ,CILIOPATHY - Abstract
Rod‐cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed by cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non‐syndromic RCD explaining 60% to 70% of cases, with novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole‐exome sequencing applied to a case of autosomal recessive non‐syndromic RCD from a consanguineous union identified a homozygous variant in WDR34. Mutations in WDR34 have been previously associated with severe ciliopathy syndromes possibly associated with a retinal dystrophy. This is the first report of a homozygous mutation in WDR34 associated with non‐syndromic RCD. [ABSTRACT FROM AUTHOR]
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- 2021
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36. Rod–Cone Interactions:: Developmental and Clinical Significance
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Mohand-Said, Saddek, Hicks, David, Léveillard, Thierry, Picaud, Serge, Porto, Fernanda, and Sahel, José A.
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- 2001
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37. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
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Khateb, Samer, Nassisi, Marco, Bujakowska, Kinga M., Méjécase, Cécile, Condroyer, Christel, Antonio, Aline, Foussard, Marine, Démontant, Vanessa, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, and Audo, Isabelle
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- 2019
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38. Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non‐syndromic rod‐cone dystrophy.
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Méjécase, Cécile, Hummel, Aurélie, Mohand‐Saïd, Saddek, Andrieu, Camille, El Shamieh, Said, Antonio, Aline, Condroyer, Christel, Boyard, Fiona, Foussard, Marine, Blanchard, Steven, Letexier, Mélanie, Saraiva, Jean‐Paul, Sahel, José‐Alain, Zeitz, Christina, and Audo, Isabelle
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GENETIC mutation ,MUSCULAR dystrophy ,PROTEINURIA ,LEARNING disabilities ,NUCLEOTIDE sequencing ,RENAL biopsy ,PHENOTYPES - Abstract
Genetic investigations were performed in three brothers from a consanguineous union, the two oldest diagnosed with rod‐cone dystrophy (RCD), the youngest with early‐onset cone‐rod dystrophy and the two youngest with nephrotic‐range proteinuria. Targeted next‐generation sequencing did not identify homozygous pathogenic variant in the oldest brother. Whole exome sequencing (WES) applied to the family identified compound heterozygous variants in CC2D2A (c.2774G>C p.(Arg925Pro); c.4730_4731delinsTGTATA p.(Ala1577Valfs*5)) in the three brothers with a homozygous deletion in CNGA3 (c.1235_1236del p.(Glu412Valfs*6)) in the youngest correcting his diagnosis to achromatopsia plus RCD. None of the three subjects had cerebral abnormalities or learning disabilities inconsistent with Meckel‐Gruber and Joubert syndromes, usually associated with CC2D2A mutations. Interestingly, an African woman with RCD shared the CC2D2A missense variant (c.2774G>C p.(Arg925Pro); with c.3182+355_3825del p.(?)). The two youngest also carried compound heterozygous variants in CUBN (c.7906C>T rs137998687 p.(Arg2636*); c.10344C>G p.(Cys3448Trp)) that may explain their nephrotic‐range proteinuria. Our study identifies for the first time CC2D2A mutations in isolated RCD and underlines the power of WES to decipher complex phenotypes. Our study identifies for the first time CC2D2A mutations in isolated rod‐cone dystrophy (RCD) and emphasizes the power of whole exome sequencing to elucidate complex phenotypes in the same family including RCD, early‐onset cone‐rod dystrophy which turned out to be achromatopsia with RCD and nephrotic‐range proteinuria inconsistent with nephronophthisis on renal biopsy. [ABSTRACT FROM AUTHOR]
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- 2019
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39. Analyse temporelle des oscillations du centre de pression chez les sujets atteints de DMLA
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Chatard, Hortense, Tepenier, Laure, Beydoun, Talal, Offret, Olivier, Salah, Sawsen, Sahel, José-Alain, Mohand-Said, Saddek, and Bucci, Maria Pia
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- 2018
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40. Usher Syndrome and Color Vision.
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Kurtenbach, Anne, Hahn, Gesa, Kernstock, Christoph, Hipp, Stephanie, Zobor, Ditta, Stingl, Katarina, Kohl, Susanne, Bonnet, Crystel, Mohand-Saïd, Saddek, Sliesoraityte, Ieva, Sahel, José-Alain, Audo, Isabelle, Fakin, Ana, Hawlina, Marko, Testa, Francesco, Simonelli, Francesca, Petit, Christine, and Zrenner, Eberhart
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USHER'S syndrome ,DEAFNESS ,GENETIC disorders ,COLOR vision ,VISUAL acuity - Abstract
Purpose: The aim of this study is to report on the results of color vision testing in a European cohort of patients with Usher syndrome (USH). We describe the results in relation to Usher type (USH1 and USH2), age and visual acuity. Methods and methods: The color vision of 220 genetically confirmed adult USH patients, aged 18-70 years, was analyzed with one of three methods: the Farnsworth D-15 Dichotomous test (D-15) along with the Lanthony desaturated 15 Hue tests (D-15d), the Roth 28-Hue test, or the Ishihara 14-plate test. Visual acuity was measured with either the ETDRS or the SNELLEN charts. The Confusion index, the Selectivity index and the Confusion angle were calculated for the panel tests and used for analysis. The numbers of plates that could not be read were analyzed for the Ishihara test. Results: For the panel tests, the degree of color loss (Confusion index) is similar in both subtypes of USH, but the polarization of error scores (Selectivity index) is significantly lower in USH1 than USH2, showing more diffuse errors than those found in USH2. There is no significant correlation between logMAR visual acuity and the Confusion or the Selectivity indices. Additionally, we find a significant correlation between patient age and the degree and the polarity of the loss only in USH2. There was no difference between USH1 and USH2 in the results of the Ishihara test. Conclusions: The examination of color vision in patients with USH shows a significant difference in the pattern of color vision loss in USH1 and USH2 patients, but not in the severity of the loss. In USH2, we find a correlation between patient age and the degree and the polarity of the loss. These results may be due to differences in the pathogenesis of retinal dystrophy in USH1 and USH2. [ABSTRACT FROM AUTHOR]
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- 2018
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41. X-Linked Retinoschisis.
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Audo, Isabelle, Sahel, José-Alain, Mohand-Saïd, Saddek, Holder, Graham, and Moore, Anthony
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- 2016
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42. Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
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Méjécase, Cécile, Laurent-Coriat, Caroline, Mayer, Claudine, Poch, Olivier, Mohand-Saïd, Saddek, Prévot, Camille, Antonio, Aline, Boyard, Fiona, Condroyer, Christel, Michiels, Christelle, Blanchard, Steven, Letexier, Mélanie, Saraiva, Jean-Paul, Sahel, José-Alain, Audo, Isabelle, and Zeitz, Christina
- Subjects
DYSTROPHY ,NIGHT blindness ,NONSENSE mutation ,EXOMES ,NUCLEOTIDE sequencing ,GENETICS ,THERAPEUTICS - Abstract
GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous truncating GNAT1 mutation was identified in a patient with late-onset rod-cone dystrophy. After exclusion of mutations in genes underlying progressive inherited retinal disorders, by targeted next generation sequencing, a 32 year-old male sporadic case with severe rod-cone dystrophy and his unaffected parents were investigated by whole exome sequencing. This led to the identification of a homozygous nonsense variant, c.963C>A p.(Cys321*) in GNAT1, which was confirmed by Sanger sequencing. The mother was heterozygous for this variant whereas the variant was absent in the father. c.963C>A p.(Cys321*) is predicted to produce a shorter protein that lacks critical sites for the phototransduction cascade. Our work confirms that the phenotype and the mode of inheritance associated with GNAT1 variants can vary from autosomal dominant, autosomal recessive congenital stationary night blindness to autosomal recessive rod-cone dystrophy. [ABSTRACT FROM AUTHOR]
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- 2016
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43. RdCVF
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Léveillard, Thierry, Mohand-Saïd, Saddek, Lorentz, Olivier, Hicks, David, Fintz, Anne-Claire, Clérin, Emmanuelle, Cavusoglu, Nükhet, Chalmel, Frédéric, Dollé, Pascal, Poch, Olivier, Lambrou, George, Sahel, José-Alain, Laboratoire de Physiopathologie Cellulaire et Moleculaire de la Retine, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ophthalmology Research, Novartis Pharma, Institute of Ophthalmology, University College of London [London] (UCL), and Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I
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[SDV.GEN]Life Sciences [q-bio]/Genetics ,MESH: Humans ,MESH: Molecular Sequence Data ,genetic structures ,trophic factor ,photoreceptors ,MESH: Immunohistochemistry ,MESH: Amino Acid Sequence ,eye diseases ,MESH: In Situ Hybridization ,MESH: Thioredoxins ,[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN] ,retinal degeneration ,MESH: Blotting, Western ,MESH: Retinitis Pigmentosa ,MESH: Cloning, Molecular ,sense organs ,MESH: RNA, Messenger - Abstract
International audience; Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are essential for day and high-acuity vision. Their loss is indirect, as most genes associated with retinitis pigmentosa are not expressed by these cells. We previously showed that factors secreted from rods are essential for cone viability. Here we identified one such trophic factor by expression cloning and named it rod-derived cone viability factor (RdCVF). RdCVF is a truncated thioredoxin-like protein specifically expressed by photoreceptors. The identification of this protein offers new treatment possibilities for retinitis pigmentosa.
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- 2004
44. Differential proteomic analysis of the mouse retina: the induction of crystallin proteins by retinal degeneration in the rd1 mouse
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Cavusoglu, Nükhet, Thierse, Danièle, Mohand-Saïd, Saddek, Chalmel, Frédéric, Poch, Olivier, van Dorsselaer, Alain, Sahel, José-Alain, Léveillard, Thierry, Laboratoire de Spectrométrie de Masse BioOrganique [Strasbourg] (LSMBO), Département Sciences Analytiques et Interactions Ioniques et Biomoléculaires (DSA-IPHC), Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Institut Pluridisciplinaire Hubert Curien (IPHC), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de Physique Nucléaire et de Physique des Particules du CNRS (IN2P3)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Physiopathologie Cellulaire et Moleculaire de la Retine, and Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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[SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology - Abstract
International audience; We have applied proteomic analysis to the degeneration of photoreceptors. In the rd1 mouse, a recessive mutation in the PDE6B gene leads to rapid loss of rods through apoptosis. By 5 wk postnatal, virtually all rod photoreceptors have degenerated, leaving one row of cones that degenerates secondarily. In order to assess comparative protein expression, proteins extracted from whole retina were resolved on a two-dimensional gel and identified by mass spectrometry combined with database screening. Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry coupled to peptide mass fingerprinting was sufficient to identify most of the proteins, the remaining being identified with additional sequence information obtained by nano-electrospray ionization tandem mass spectrometry or liquid chromatography tandem mass spectrometry. The study revealed 212 spots, grouped into 109 different proteins. Differential analysis showed loss of proteins involved in the rod-specific phototransduction cascade, as well as induction of proteins from the crystallin family, in response to retinal degeneration. Identification of such pathways may contribute to new therapeutic approaches.
- Published
- 2003
45. X-Linked Retinoschisis.
- Author
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Audo, Isabelle, Mohand-Saïd, Saddek, Sahel, José-Alain, Holder, Graham E., and Moore, Anthony T.
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- 2014
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46. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
- Author
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Boulanger-Scemama, Elise, Shamieh, Said El, Démontant, Vanessa, Condroyer, Christel, Antonio, Aline, Michiels, Christelle, Boyard, Fiona, Saraiva, Jean-Paul, Letexier, Mélanie, Souied, Eric, Mohand-Saïd, Saddek, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle, and El Shamieh, Said
- Subjects
RETINAL degeneration ,NUCLEOTIDE sequence ,GENETIC mutation ,HUMAN phenotype ,GENETIC disorders ,VISION disorders - Abstract
Background: Cone and cone-rod dystrophies are clinically and genetically heterogeneous inherited retinal disorders with predominant cone impairment. They should be distinguished from the more common group of rod-cone dystrophies (retinitis pigmentosa) due to their more severe visual prognosis with early central vision loss. The purpose of our study was to document mutation spectrum of a large French cohort of cone and cone-rod dystrophies.Methods: We applied Next-Generation Sequencing targeting a panel of 123 genes implicated in retinal diseases to 96 patients. A systematic filtering approach was used to identify likely disease causing variants, subsequently confirmed by Sanger sequencing and co-segregation analysis when possible.Results: Overall, the likely causative mutations were detected in 62.1 % of cases, revealing 33 known and 35 novel mutations. This rate was higher for autosomal dominant (100 %) than autosomal recessive cases (53.8 %). Mutations in ABCA4 and GUCY2D were responsible for 19.2 % and 29.4 % of resolved cases with recessive and dominant inheritance, respectively. Furthermore, unexpected genotype-phenotype correlations were identified, confirming the complexity of inherited retinal disorders with phenotypic overlap between cone-rod dystrophies and other retinal diseases.Conclusions: In summary, this time-efficient approach allowed mutation detection in the most important cohort of cone-rod dystrophies investigated so far covering the largest number of genes. Association of known gene defects with novel phenotypes and mode of inheritance were established. [ABSTRACT FROM AUTHOR]- Published
- 2015
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47. Threshold Levels of Visual Field and Acuity Loss Related to Significant Decreases in the Quality of Life and Emotional States of Patients with Retinitis Pigmentosa.
- Author
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azoulay, Line, Chaumet-Riffaud, Philippe, Jaron, Steven, Roux, Camille, Sancho, Serge, Berdugo, Naomi, audo, Isabelle, Sahel, José-alain, and Mohand-Saïd, Saddek
- Subjects
VISUAL fields ,VISUAL acuity ,QUALITY of life ,RETINITIS pigmentosa ,PATIENT psychology ,PATIENTS - Abstract
Introduction: Retinitis pigmentosa (RP) is an inherited retinal disorder, characterized by photoreceptor degeneration inducing progressive vision loss. This study evaluates its impact on quality of life (QOL) and emotional states of patients affected by RP. Methods: A cross-sectional study was conducted on 60 RP patients diagnosed with rod-cone dystrophy and on 20 control subjects. The RP population has been divided into 3 groups according to visual field (VF) and visual acuity (VA) impairments. Concurrently, scores of self-reported QOL (25-item National Eye Institute Visual Functioning Questionnaire) and of the Hospital Anxiety and Depression Scale for anxiety/depression assessments were collected. Results: For the QOL composite score, we noticed consistent differences between all VF and VA affected groups and their control group. We also found significant differences between both the most affected VF group (VF1: ØVF <20°) and VA group (VA1: VA <0.3) compared to other VF and VA groups. For anxiety/depression scores, consistent differences have been found between the control group and VF1 and VA1, respectively. Conclusions: This work determines that, for RP patients, a significant QOL and emotional state deterioration correlates with a residual VF diameter below 20° and a VA lower than 0.3. It introduces, for the first time, thresholds to be used in visual restoration or visual preservation therapies to improve QOL of RP patients. © 2015 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]
- Published
- 2015
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48. Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy.
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El Shamieh, Said, Boulanger-Scemama, Elise, Lancelot, Marie-Elise, Antonio, Aline, Démontant, Vanessa, Condroyer, Christel, Letexier, Mélanie, Saraiva, Jean-Paul, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, and Zeitz, Christina
- Subjects
OCULAR radiography ,RETINITIS pigmentosa ,DNA analysis ,RESEARCH ,AGE factors in disease ,CHROMOSOME abnormalities ,EYE examination ,GENETIC polymorphisms ,MEDICAL cooperation ,GENETIC mutation ,RESEARCH funding ,PHENOTYPES ,OPTICAL coherence tomography ,DATA analysis software ,DESCRIPTIVE statistics ,SEQUENCE analysis ,GENOTYPES ,GENETICS - Abstract
We report ophthalmic and genetic findings in families with autosomal recessive rod-cone dystrophy (arRCD) and RP1 mutations. Detailed ophthalmic examination was performed in 242 sporadic and arRCD subjects. Genomic DNA was investigated using our customized next generation sequencing panel targeting up to 123 genes implicated in inherited retinal disorders. Stringent filtering coupled with Sanger sequencing and followed by cosegregation analysis was performed to confirm biallelism and the implication of the most likely disease causing variants. Sequencing identified 9 RP1 mutations in 7 index cases. Eight of the mutations were novel, and all cosegregated with severe arRCD phenotype, found associated with additional macular changes. Among the identified mutations, 4 belong to a region, previously associated with arRCD, and 5 others in a region previously associated with adRCD. Our prevalence studies showed that RP1 mutations account for up to 2.5% of arRCD. These results point out for the necessity of sequencing RP1 when genetically investigating sporadic and arRCD. It further highlights the interest of unbiased sequencing technique, which allows investigating the implication of the same gene in different modes of inheritance. Finally, it reports that different regions of RP1 can also lead to arRCD. [ABSTRACT FROM AUTHOR]
- Published
- 2015
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49. Cone Survival: Identification of RdCVF.
- Author
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Back, Nathan, Cohen, Irun R., Kritchevsky, David, Lajtha, Abel, Paoletti, Rodolfo, Hollyfield, Joe G., Anderson, Robert E., LaVail, Matthew M., Lorentz, Olivier, Sahel, José, Mohand-Saïd, Saddek, and Leveillard, Thierry
- Abstract
The foremost cause of irreversible blindness in major retinal diseases is photoreceptor degeneration. In animal models as well as in human retinal hereditary dystrophies, the mutations described since 1990 affect mainly coding sequences for structural proteins (peripherine, Rom 1) or components of the phototransduction cascade (rhodopsin, cGMP-dependent phosphodiesterase) found in the rod outer segments.1,2,3 The mechanisms leading to programmed cell death of these cells are still hypothetical.4 In addition to this direct rapid rod loss, delayed cone loss is seen in clinical situations and was described in 1978 in the "retinal degeneration" (rd) mouse model. Their loss is responsible for the major visual handicap because cones are essential for diurnal, colour and central vision.6 This secondary loss of cone photoreceptors does not have any obvious explanation since cones are generally not directly affected by the genetic anomaly found in these diseases. [ABSTRACT FROM AUTHOR]
- Published
- 2006
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50. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
- Author
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Fritsche, Lars G., Igl, Wilmar, Cooke Bailey, Jessica N., Grassmann, Felix, Sengupta, Sebanti, Bragg-Gresham, Jennifer L., Burdon, Kathryn P., Hebbring, Scott J., Wen, Cindy, Gorski, Mathias, Kim, Ivana K., Cho, David, Zack, Donald, Souied, Eric, Scholl, Hendrik P. N., Bala, Elisa, Lee, Kristine E., Hunter, David J., Sardell, Rebecca J., Mitchell, Paul, Merriam, Joanna E., Cipriani, Valentina, Hoffman, Joshua D., Schick, Tina, Lechanteur, Yara T. E., Guymer, Robyn H., Johnson, Matthew P., Jiang, Yingda, Stanton, Chloe M., Buitendijk, Gabriëlle H. S., Zhan, Xiaowei, Kwong, Alan M., Boleda, Alexis, Brooks, Matthew, Gieser, Linn, Ratnapriya, Rinki, Branham, Kari E., Foerster, Johanna R., Heckenlively, John R., Othman, Mohammad I., Vote, Brendan J., Liang, Helena Hai, Souzeau, Emmanuelle, McAllister, Ian L., Isaacs, Timothy, Hall, Janette, Lake, Stewart, Mackey, David A., Constable, Ian J., Craig, Jamie E., Kitchner, Terrie E., Yang, Zhenglin, Su, Zhiguang, Luo, Hongrong, Chen, Daniel, Ouyang, Hong, Flagg, Ken, Lin, Danni, Mao, Guanping, Ferreyra, Henry, Stark, Klaus, von Strachwitz, Claudia N., Wolf, Armin, Brandl, Caroline, Rudolph, Guenther, Olden, Matthias, Morrison, Margaux A., Morgan, Denise J., Schu, Matthew, Ahn, Jeeyun, Silvestri, Giuliana, Tsironi, Evangelia E., Park, Kyu Hyung, Farrer, Lindsay A., Orlin, Anton, Brucker, Alexander, Li, Mingyao, Curcio, Christine, Mohand-Saïd, Saddek, Sahel, José-Alain, Audo, Isabelle, Benchaboune, Mustapha, Cree, Angela J., Rennie, Christina A., Goverdhan, Srinivas V., Grunin, Michelle, Hagbi-Levi, Shira, Campochiaro, Peter, Katsanis, Nicholas, Holz, Frank G., Blond, Frédéric, Blanché, Hélène, Deleuze, Jean-François, Igo, Robert P., Truitt, Barbara, Peachey, Neal S., Meuer, Stacy M., Myers, Chelsea E., Moore, Emily L., Klein, Ronald, Hauser, Michael A., Postel, Eric A., Courtenay, Monique D., Schwartz, Stephen G., Kovach, Jaclyn L., Scott, William K., Liew, Gerald, Tƒan, Ava G., Gopinath, Bamini, Merriam, John C., Smith, R. Theodore, Khan, Jane C., Shahid, Humma, Moore, Anthony T., McGrath, J. Allie, Laux, Reneé, Brantley, Milam A., Agarwal, Anita, Ersoy, Lebriz, Caramoy, Albert, Langmann, Thomas, Saksens, Nicole T. M., de Jong, Eiko K., Hoyng, Carel B., Cain, Melinda S., Richardson, Andrea J., Martin, Tammy M., Blangero, John, Weeks, Daniel E., Dhillon, Bal, van Duijn, Cornelia M., Doheny, Kimberly F., Romm, Jane, Klaver, Caroline C. W., Hayward, Caroline, Gorin, Michael B., Klein, Michael L., Baird, Paul N., den Hollander, Anneke I., Fauser, Sascha, Yates, John R. W., Allikmets, Rando, Wang, Jie Jin, Schaumberg, Debra A., Klein, Barbara E. K., Hagstrom, Stephanie A., Chowers, Itay, Lotery, Andrew J., Léveillard, Thierry, Zhang, Kang, Brilliant, Murray H., Hewitt, Alex W., Swaroop, Anand, Chew, Emily Y., Pericak-Vance, Margaret A., DeAngelis, Margaret, Stambolian, Dwight, Haines, Jonathan L., Iyengar, Sudha K., Weber, Bernhard H. F., Abecasis, Gonçalo R., and Heid, Iris M.
- Abstract
Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly with limited therapeutic options. Here, we report on a study of >12 million variants including 163,714 directly genotyped, most rare, protein-altering variant. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5×10–8) distributed across 34 loci. While wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first signal specific to wet AMD, near MMP9 (difference-P = 4.1×10–10). Very rare coding variants (frequency < 0.1%) in CFH, CFI, and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
- Published
- 2016
- Full Text
- View/download PDF
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