Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps

被引:180
作者
Duncan, Jacque L. [1 ]
Pierce, Eric A. [2 ]
Laster, Amy M. [3 ]
Daiger, Stephen P. [4 ,5 ]
Birch, David G. [6 ]
Ash, John D. [7 ]
Iannaccone, Alessandro [8 ]
Flannery, John G. [9 ]
Sahel, Jose A. [10 ,11 ]
Zack, Donald J. [12 ,13 ,14 ,15 ]
Zarbin, Marco A. [16 ]
机构
[1] Univ Calif San Francisco, Dept Ophthalmol, 10 Koret Way,K113, San Francisco, CA 94143 USA
[2] Harvard Med Sch, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA USA
[3] Fdn Fighting Blindness, Columbia, MD USA
[4] Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA
[5] Univ Texas Hlth Sci Ctr Houston, Ruiz Dept Ophthalmol & Visual Sci, Houston, TX 77030 USA
[6] Retina Fdn Southwest, Rose Silverthorne Retinal Degenerat Lab, Dallas, TX USA
[7] Univ Florida, Dept Ophthalmol, Gainesville, FL USA
[8] Duke Univ, Sch Med, Dept Ophthalmol, Ctr Retinal Degenerat & Ophthalm Genet Dis, Durham, NC USA
[9] Univ Calif Berkeley, Dept Mol & Cell Biol, Vis Sci, Helen Wills Neurosci Inst, 229 Stanley Hall, Berkeley, CA 94720 USA
[10] Univ Pittsburgh, Sch Med, Dept Ophthalmol, Pittsburgh, PA 15261 USA
[11] Sorbonne Univ, CNRS Paris, INSERM, Inst Vis, Paris, France
[12] Johns Hopkins Univ, Sch Med, Dept Ophthalmol, Baltimore, MD 21205 USA
[13] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA
[14] Johns Hopkins Univ, Sch Med, Dept Mol Biol & Genet, Baltimore, MD 21205 USA
[15] Johns Hopkins Univ, Sch Med, Inst Med Genet, Baltimore, MD USA
[16] Rutgers State Univ, Rutgers New Jersey Med Sch, Inst Ophthalmol & Visual Sci, Newark, NJ USA
关键词
LEBER CONGENITAL AMAUROSIS; STARGARDT DISEASE PROGSTAR; OPTICAL COHERENCE TOMOGRAPHY; RETINITIS-PIGMENTOSA; GENE-THERAPY; MOUSE MODEL; PHOTORECEPTOR DEGENERATION; ATROPHY SECONDARY; NATURAL-HISTORY; VITAMIN-A;
D O I
10.1167/tvst.7.4.6
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
[No abstract available]
引用
收藏
页数:15
相关论文
共 146 条
[1]   A Prospective Longitudinal Study of Retinal Structure and Function in Achromatopsia [J].
Aboshiha, Jonathan ;
Dubis, Adam M. ;
Cowing, Jill ;
Fahy, Rachel T. A. ;
Sundaram, Venki ;
Bainbridge, James W. ;
Ali, Robin R. ;
Dubra, Alfredo ;
Nardini, Marko ;
Webster, Andrew R. ;
Moore, Anthony T. ;
Rubin, Gary ;
Carroll, Joseph ;
Michaelides, Michel .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2014, 55 (09) :5733-5743
[2]   Natural History of the Central Structural Abnormalities in Choroideremia A Prospective Cross-Sectional Study [J].
Aleman, Tomas S. ;
Han, Grace ;
Serrano, LeonaW. ;
Fuerst, NicoleM. ;
Charlson, Emily S. ;
Pearson, Denise J. ;
Chung, Daniel C. ;
Traband, Anastasia ;
Pan, Wei ;
Ying, Gui-Shuang ;
Bennett, Jean ;
Maguire, Albert M. ;
Morgan, Jessica I. W. .
OPHTHALMOLOGY, 2017, 124 (03) :359-373
[3]   Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy [J].
Ali, RR ;
Sarra, GM ;
Stephens, C ;
de Alwis, M ;
Bainbridge, JWB ;
Munro, PM ;
Fauser, S ;
Reichell, MB ;
Kinnon, C ;
Hunt, DM ;
Bhattacharya, SS ;
Thrasher, AJ .
NATURE GENETICS, 2000, 25 (03) :306-310
[4]  
[Anonymous], 2016, REC CLIN ASS PAT INH
[5]   Transplantation of Embryonic and Induced Pluripotent Stem Cell-Derived 3D Retinal Sheets into Retinal Degenerative Mice [J].
Assawachananont, Juthaporn ;
Mandai, Michiko ;
Okamoto, Satoshi ;
Yamada, Chikako ;
Eiraku, Mototsugu ;
Yonemura, Shigenobu ;
Sasai, Yoshiki ;
Takahashi, Masayo .
STEM CELL REPORTS, 2014, 2 (05) :662-674
[6]   Long-Term Effect of Gene Therapy on Leber's Congenital Amaurosis [J].
Bainbridge, J. W. B. ;
Mehat, M. S. ;
Sundaram, V. ;
Robbie, S. J. ;
Barker, S. E. ;
Ripamonti, C. ;
Georgiadis, A. ;
Mowat, F. M. ;
Beattie, S. G. ;
Gardner, P. J. ;
Feathers, K. L. ;
Luong, V. A. ;
Yzer, S. ;
Balaggan, K. ;
Viswanathan, A. ;
de Ravel, T. J. L. ;
Casteels, I. ;
Holder, G. E. ;
Tyler, N. ;
Fitzke, F. W. ;
Weleber, R. G. ;
Nardini, M. ;
Moore, A. T. ;
Thompson, D. A. ;
Petersen-Jones, S. M. ;
Michaelides, M. ;
van den Born, L. I. ;
Stockman, A. ;
Smith, A. J. ;
Rubin, G. ;
Ali, R. R. .
NEW ENGLAND JOURNAL OF MEDICINE, 2015, 372 (20) :1887-1897
[7]   Effect of gene therapy on visual function in Leber's congenital amaurosis [J].
Bainbridge, James W. B. ;
Smith, Alexander J. ;
Barker, Susie S. ;
Robbie, Scott ;
Henderson, Robert ;
Balaggan, Kamaljit ;
Viswanathan, Ananth ;
Holder, Graham E. ;
Stockman, Andrew ;
Tyler, Nick ;
Petersen-Jones, Simon ;
Bhattacharya, Shomi S. ;
Thrasher, Adrian J. ;
Fitzke, Fred W. ;
Carter, Barrie J. ;
Rubin, Gary S. ;
Moore, Anthony T. ;
Ali, Robin R. .
NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (21) :2231-2239
[8]   Repair of the degenerate retina by photoreceptor transplantation [J].
Barber, Amanda C. ;
Hippert, Claire ;
Duran, Yanai ;
West, Emma L. ;
Bainbridge, James W. B. ;
Warre-Cornish, Katherine ;
Luhmann, Ulrich F. O. ;
Lakowski, Jorn ;
Sowden, Jane C. ;
Ali, Robin R. ;
Pearson, Rachael A. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (01) :354-359
[9]   Optogenetic approaches to retinal prosthesis [J].
Barrett, John Martin ;
Berlinguer-Palmini, Rolando ;
Degenaar, Patrick .
VISUAL NEUROSCIENCE, 2014, 31 (4-5) :345-354
[10]   Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of leber congenital amaurosis [J].
Batten, ML ;
Imanishi, Y ;
Tu, DC ;
Doan, T ;
Zhu, L ;
Pang, JJ ;
Glushakova, L ;
Moise, AR ;
Baehr, W ;
Van Gelder, RN ;
Hauswirth, WW ;
Rieke, F ;
Palczewski, K .
PLOS MEDICINE, 2005, 2 (11) :1177-1189