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Gene Therapy for Leber Congenital Amaurosis
2003 Leber congenital amaurosis (LCA) accounts for 5% of all inherited retinal dystrophies (Foxman et al., 1985; Kaplan et al., 1990), causing blindness in infants (Leber, 1869). Children are diagnosed before one year of age and present with impaired vision or total blindness, a normal fundus exam and a severely depressed or absent electroretinogram (ERG ...Dejneka NS, SURACE, Enrico Maria, Bennett J. +2 moreopenaire +3 more sourcesLeber Congenital Amaurosis
2016 Leber congenital amaurosis is a group of early-onset retinal dystrophies characterized by severe vision loss, nystagmus, and retinal dysfunction demonstrated with severely abnormal ERG.openaire +1 more sourceDiagnostic Criteria for Leber's Congenital Amaurosis
Archives of Ophthalmology, 1987 To the Editor. —I am concerned by the lack of specific diagnostic criteria in a recent article by Schroeder et al, 1 which retrospectively reveiwed the cases of 43 patients with Leber's congenital amaurosis. For example, the authors stated that all patients "presented with poor vision since birth or before 6 months of age" but did not specify what ...openaire +2 more sourcesLeber congenital amaurosis: a genetic paradigm
Ophthalmic Genetics, 2004 Leber congenital amaurosis (LCA; estimated prevalence 1 : 50,000-100,000) is an early-onset inherited cause of childhood blindness characterized by a severe retinal dystrophy immediately after birth. Variants in at least six genes, AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1, have been associated with a diagnosis consistent with LCA or early-onset ...openaire +2 more sourcesLeber Congenital Amaurosis in Asia
2018 Leber congenital amaurosis (LCA) is a heterogeneous infantile retinal dystrophy presenting with severe visual loss, nystagmus, sluggish pupillary responses and an extinguished electroretinogram (ERG). LCA accounts for 5% of inherited retinal degenerative disorders worldwide. To date at least 30 genes are known to either cause or be associated with this Sharola Dharmaraj, Anshuman Verma, P. Sundaresan, Chitra Kannabiran +3 moreopenaire +1 more sourceLeber Congenital Amaurosis
2009 Alexander K. C. Leung, William Lane M. Robson, Carsten Büning, Johann Ockenga, Janine Büttner, Hartmut Schmidt, Antonio V. Delgado-Escueta, Katerina Tanya B. Perez-Gosiengfiao, Reyna M. Duron, Jesus Machado-Salas, Iris E. Martinez-Juarez, Ma. Rosa Avila, Angela Vincent, John Newsom-Davis*, Vinzenz Oji, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Zvi Laron, Walter Lisch, Andreas Janecke, Berthold Seitz, Birgit Lorenz, Markus N. Preising, Nosratola D. Vaziri, John F. MacGregor, Roger A. Freedman, Thomas Klopstock, Arndt Hartmann, Wolfgang Dietmaier, Markus Böhm, Thomas A. Luger, Gudrun Rappold, Andrea Kelly, Changhong Li, Françoise Vuillier, Amos Etzioni, Cord Sunderkötter, Nandhagopal Ramachandiran, Sandra Sirrs, Jan Ehrchen, Stefan Beissert, Fenella Wojnarowska, Gudula Kirtschig, Alexander K. C. Leung, William Lane M. Robson, Laurent Schild, Bernard C. Rossier, Wolfgang Dietmaier, Arndt Hartmann, Hubert Scharnagl, Winfried März, James M. Gilchrist, Rabah Ben Yaou, Gisèle Bonne, Benedikt G. H. Schoser, Flavia Paula, Mariz Vainzof, Maria Rita Passos-Bueno, Mayana Zatz, Tracey Weiler, Patrick Frosk, Kiaus Wrogemann, Cheryl R. Greenberg, Eloisa De Sá Moreira, Mariz Vainzof, Mayana Zatz, Maria Rita Passos-Bueno, Patrick Frosk, Tracey Weiler, Klaus Wrogemann, Cheryl R. Greenberg, Adel Driss, Silke Hofmann, Leena Bruckner‐Tuderman, Takahiro Hamada, John A. McGrath, August H. M. Smelt, Renzo Guerrini, Carla Marini, Elena Parrini, Cord Sunderkötter, Olav A. Gressner, Sören Siegmund, Stephan Haas, Manfred V. Singer, Matthias Wettstein, Olav A. Gressner, Olav A. Gressner, Dieter Häussinger, Massimo Pinzani, Wataru Shimizu, Charles Antzelevitch, Gérard Gacon, Olivier Dorseuil, Rémi Salomon, Joël Lunardi, Rade Tomic, Jesse Roman, Michelle A. Carey, Darryl C. Zeldin, Hideto Kameda, Jonathan Corren, Johannes C. Nossent, Alexander Olivares-Reyes, Tobias A. Rupprecht, Hans-Walter Pfister, Volker Fingerle, Rui-Cheng Ji, Chitra Suri, Marlys H. Witte, Lubomir Sokol, Jürgen Schölmerich, Martina Deckert, Reiner Siebert, Manuel Montesinos-Rongen, Cornelius Courts, Heinrich Schwindt, Anna Brunn, Werner Kempf, Reinhard Dummer, Günter Burg, Sylvain Latour, Karsten Schulmann, Christian Pox, Wolff Schmiegel, Laura M. Tanner +126 moreopenaire +1 more sourceAmaurosis, Leber Congenital
2009 Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Gema Ariceta, Daniel Batlle, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Thomas Schwarz, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, Stefan R. Bornstein, Holger S. Willenberg, James M. Powers, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Markus Böhm, Thomas A. Luger, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, André B. P. Kuilenburg, Albert H. Gennip, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Cord Sunderkötter, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Winfried März, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Patrick T. S. Ma, Michael L. H. Ma, Alexander K. C. Leung, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Thomas Klockgether, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, Randolf Brehler, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan +199 moreopenaire +1 more source
