XVI INTERNATIONAL SYMPOSIUM ON RETINAL DEGENERATION RD2014 July 13 ‐ 18, 2014 Asilomar Conference Center Pacific Grove, California, United States International Organizing Committee Catherine Bowes Rickman Matthew M. LaVail John D. Ash Christian Grimm Robert E. Anderson Joe G. Hollyfield Administrative Coordinators Holly Whiteside Melody Marcum Satellite Symposium of the XXI INTERNATIONAL CONGRESS OF EYE RESEARCH Young Investigator Travel Award
The organizers of RD2014 wish to congratulate the recipients of RD2014 Young Investigator Travel Awards listed below and funded by the National Eye Institute, NIH, USA; the Foundation Fighting Blindness, USA; Pro Retina, Germany; and the Fritz Tobler Foundation, Switzerland. Eligibility was restricted to graduate students, postdoctoral fellows, instructors and assistant professors actively involved in retinal degeneration research. These awards were based on the quality of the abstract submitted by each applicant. The Travel Awards Committee consisted of nine senior retinal degeneration investigators and was chaired by Catherine Bowes Rickman. Pro Retina Germany Awardees Rob Collin Radboud University Medical Centre Nijmegen, Netherlands David Parfitt UCL Institute of Ophthalmology London, United Kingdom Xavier Gerard Institut Imagine Paris, France Celia Parinot Institut de la Vision Paris, France Claire Hippert UCL Institute of Ophthalmology London, United Kingdom Beryl Royer‐Bertrand University of Lausanne Lausanne, Switzerland Elod Kortvely Universität Tübingen Tübingen, Germany Rosario Fernandez Godino MEEI‐Harvard Medical School Boston, USA Diana Pauly Universität Regensburg Regensburg, Germany Stefanie Hauck Helmholtz Zentrum Müchen Neuherberg, Germany Matt Rutar The Australian National University Canberra, Australia Mark Kleinman University of Kentucky Lexington, USA Marijana Samardzija University of Zurich Schlieren, Switzerland Hongwei Ma University of Oklahoma HSC Oklahoma City, USA Lei Wang Johns Hopkins University Baltimore, USA Travel Awards
Fritz Tobler Foundation Awardees 2
Young Investigator Travel Award
Foundation Fighting Blindness Awardees Carolina Abrahan University of Florida Gainesville, USA Ruanne Lai University of British Columbia Vancouver, Canada Marcel Alavi University of California, San Francisco San Francisco, USA Jennifer Lentz Louisiana State University HSC New Orleans, USA Shannon Boye University of Florida Gainesville, USA Yao Li Columbia University New York City, USA Melissa Calton Stanford University School of Medicine San Francisco, USA Claudia Müller Fordham University New York City, USA Lindsey Ebke Cleveland Clinic Cole Eye Institute Cleveland, USA Wenjun Xiong Harvard Medical School Boston, USA Michael Elliott University of Oklahoma HSC Oklahoma City, USA Lei Xu University of Florida Gainesville, USA Roni Hazim University of California, Los Angeles Los Angeles, USA Travel Awards
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Young Investigator Travel Award
Martin‐Paul Agbaga University of Oklahoma HSC Oklahoma City, USA Christin Hanke University of Utah Salt Lake City, USA Monica Aguila University College of London London, United Kingdom John Hulleman Univ. of Texas Southwestern Medical Center Dallas, USA Seifollah Azadi University of Oklahoma HSC Oklahoma City, USA Xiaojie Ji The Jackson Laboratory Bar Harbor, USA Emran Bashar University of British Columbia Vancouver, Canada Christopher Langlo Medical College of Wisconsin Milwaukee, USA Lea Bennett Retina Foundation of the Southwest Dallas, USA Alexander Marneros Massachusetts General Hospital Charlestown, USA Manas Biswal University of Florida, College of Medicine Gainesville, USA Alex McKeown University of Alabama at Birmingham Birmingham, USA Livia Carvalho Schepens Eye Research Institute/MEEI Boston, USA Kimberly Toops University of Wisconsin ‐ Madison Madison, USA Wei‐Chieh Chiang University of California, San Diego LaJolla, USA Christopher Tracy Univeristy of Missouri, School of Medicine Columbia, USA Janise Deming University of Southern California Los Angeles, USA Mallika Valapala Johns Hopkins University School of Medicine Baltimore, USA Louise Downs University of Pennsylvania Philadelphia, USA Qingjie Wang Regenerative Research Foundation Rensselaer, USA Michael Gale Oregon Health and Science University Portland, USA Travel Awards
NEI Awardees 4
Schedule & Platform Sessions
Sunday, July 13, 2014 15:00 ‐ 17:00 Registration Desk, delegates to pick up programs and name badges (Merrill Hall & Hearthside) 17:00 ‐ 18:00 WELCOME RECEPTION (Merrill Hall) 18:00 ‐ 19:30 DINNER BUFFET (Crocker) Sunday
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Schedule & Platform Sessions
(Note: Presenting authors are underlined. Travel Awardees are in bold.) Monday, July 14, 2014 07:30 ‐ 08:15 BREAKFAST (Crocker) [Available for Accomp. Persons until 09:00] 08:15 ‐ 08:30 Welcoming Remarks ‐ Catherine Bowes Rickman (Merrill Hall) 08:30 ‐ 10:00 Platform Session I: Neuroprotection I Moderators: Cheryl Craft and Catherine O’Riordan 08:30 ‐ 09:00 09:00 ‐ 09:30 9:30 ‐ 10:00 Nicolas G. Bazan Novel molecular principles for decoding homeostasis disruptions in the retinal pigment epithelium: significance to retinal degenerative diseases Machelle T. Pardue, Eric C. Lawson, Adam Hanif, Megan Prunty, Moe H. Aung, Moon K. Han, Jana T. Sellers, Micah A. Chrenek, Marissa A. Gogniat, Jeffrey H. Boatright Exercise protects photoreceptors in induced and inherited models of retinal degeneration Don Zack High content screening to identify small molecules that promote the survival and differentiation of human stem cell‐derived RPE cells 10:00 ‐ 10:30 COFFEE BREAK [Coffee, tea, etc. available 10:00 ‐ 11:00] 10:30 ‐ 11:50 Platform Session II: Neuroprotection II Moderators: Xian‐Jie Yang and Timothy Kraft 10:50 ‐ 11:20 11:20 ‐ 11:50 Michael H. Elliott, Alaina M. Reagan, Xiaowu Gu, Nawajes Mandal, Daniel
J.J. Carr, John D. Ash Caveolin‐1 modulates retinal neuroprotective and inflammatory signaling Mayur Choudhary, Edwin Meade, Goldis Malek Lipid activated nuclear receptors regulate multiple age‐related macular degeneration (AMD) pathobiological pathways Craig Beeson, Chris Lindsey, Cecile Nasarre, Mausumi Bandyopadhyay, Bärbel Rohrer Small molecules that protect mitochondrial function from metabolic stress decelerate loss of photoreceptor cells in murine retinal degeneration models 6
Monday
10:30 ‐ 10:50 Schedule & Platform Sessions
(Note: Presenting authors are underlined. Travel Awardees are in bold.) 12:00 ‐ 13:30 LUNCH (Crocker) 13:30 ‐ 14:00 Platform Session II (Continued): Neuroprotection II 13:30 ‐ 14:00 Raju Rajala Photoreceptor neuroprotection: balancing kinase and phosphatase activities in insulin receptor signaling 14:00 ‐ 15:10 Platform Session III: Gene Therapy Moderators: Alfred Lewin and Claire Hippert 14:00 ‐ 14:20 14:20 ‐ 14:40 14:40 ‐ 15:10 Shannon Elizabeth Boye, Xi Qin Ding, Qing Ruan, Seok Hong Min, James J. Peterson, Elena V. Olshevskaya, Igor V. Peshenko, Sanford L. Boye, Alex M. Dizhoor, William W. Hauswirth Gene replacement in an all cone model of GC1 deficiency‐ focusing in on the affected loci in GUCY2D‐LCA1 patients Livia S. Carvalho, Eric Zinn, Samiksha Shah, Ru Xiao, Debalina Sakar, Vadim Khaychuck, Luk H. Vandenberghe In silico reconstructed ancestral AAV vectors unlock retinal tropism Jack M. Sullivan, Mohammed Zuber, Mark C. Butler, Kalyan Srivastava, Tiffany A. Kolniak, Dian Yu Next steps in ribozyme therapeutics development for retinal degenerative diseases Monday
15:10 ‐ 15:30 COFFEE BREAK [Coffee, tea, etc. available 15:00 ‐ 16:00] 7
Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) 15:30 ‐ 17:10 Platform Session IV: Gene Therapy Moderators: Shiming Chen and Rob Collin 15:30 ‐ 16:00 16:00 ‐ 16:20 16:20 ‐ 16:40 16:40 ‐ 17:10 Muna Naash
Nanoparticle-based gene therapy for ocular diseases: an update Jennifer J. Lentz, Francine M. Jodelka, Anthony J. Hinrich, Abhilash Ponnath, Russell J. Amato, Mette Flaat, Kate E. McCaffrey, Nicolas G. Bazan, Dominik M. Duelli, Frank Rigo, Michelle L. Hastings Antisense oligonucleotides effectively treat Usher syndrome in mice. Xavier Gérard, Isabelle Perrault, Arnold Munnich, Josseline Kaplan, Jean‐
Michel Rozet AON intravitreal injections to manipulate splicing in retinal cells. Daniel C. Chung, Jeannette Bennicelli, Adam Wojnom, Nicoletta A. Commins, Robert W. Bloom, Daniel J. Bennett, Thu T. Duong, Meera Sivalingam, Arkady Lyubarsky, Jean Bennett AAV mediated gene transfer via retrograde palpebral vein injection restores retinal and visual function in Lebercilin‐/‐ (LCA5) mice. 17:10 ‐ 17:15 Introduction of Mr. Ed Gollob by Matthew LaVail 17:15 ‐ 17:55 Keynote Lecture I: Edward H. Gollob Lecture JOHN FLANNERY, PhD The Blues and the Abstract Truth: Engineering AAV Vectors to Target Specific Functional Subclasses of Retinal Neurons and Glia Introduced by Catherine Bowes Rickman 18:00 ‐ 19:30 DINNER BUFFET (Crocker) Monday
19:30 ‐ 22:00 POSTERS (Fred Farr Forum & Patio, Kiln. Sponsored by BrightFocus Foundation.) 8
Schedule & Poster Sessions
Tuesday, July 15, 2014 07:30 ‐ 09:00 BREAKFAST (Crocker) FULL DAY EXCURSION (for all attendees and accompanying persons) In the 30‐year history of the RD Symposia, the full‐day Excursion has been a most important feature of the meeting. During these times, the top 100‐200 vision scientists from around the world have the opportunity to interact in an informal way with others whom they seldom, if ever, get a chance to meet. As a consequence of these personal interactions in a relaxed and exciting atmosphere, many collaborations, professional connections, personal friendships, and innovations have arisen during the Excursions. It is also a time when young trainees in vision research can network, meet senior investigators in the field, and explore potential postdoctoral and faculty positions. These invaluable interactions are not possible at larger scientific meetings. Morning Excursion: Choice of either 09:00 ‐ 12:00 Whale Watching on the Monterey Bay or 09:30 ‐ 12:00 The 17‐Mile Drive All: 12:00 ‐ 14:00 Box Lunches from Asilomar, Monterey’s Del Monte Beach 14:00 ‐ 18:00 Free time at Fisherman’s Wharf, Cannery Row Buses to return to Asilomar Tuesday
18:00‐19:30 COOKOUT AT ASILOMAR (Barbeque Pit Area) 19:30 ‐ 22:00 POSTERS (Fred Farr Forum & Patio, Kiln. Sponsored by BrightFocus Foundation) 9
Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) Wednesday, July 16, 2014 07:30 ‐ 08:30 BREAKFAST (Crocker) [Available for Accomp. Persons until 09:00] 08:30 ‐ 10:10 Platform Session V: Mechanisms of Degeneration I Moderators: Wolfgang Baehr and Monica Aguila 08:30 ‐ 09:00 09:00 ‐ 09:20 09:20 ‐ 09:50 09:50 ‐ 10:10 Marie E. Burns, Emily S. Levine, Eric B. Miller, Azhar Zam, Pengfei Zhang, Robert J. Zawadzki, Edward N. Pugh Jr. Quantifying the time course and ultrastructure of photoreceptor degeneration in vivo Matt V. Rutar, Riccardo Natoli, Michelle Madigan, Jan M. Provis Targeted inhibition of Il1b reduces chemokine expression, monocyte recruitment, and cell death in an animal model of atrophic AMD Orson L. Moritz, Masahiro Kono, Beatrice M. Tam
Photoactivation‐induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in transgenic models of retinitis pigmentosa Alex S. McKeown, Yuquan Wen, Diana M. Niculescu, Timothy W. Kraft Physiological changes in stressed rod photoreceptors: survival of the fastest? Wednesday
10:10 ‐ 10:30 COFFEE BREAK [Coffee, tea, etc. available 09:45 ‐ 10:45] 10
Schedule & Platform Sessions (Note: Presenting authors are underlined. Travel Awardees are in bold.) 10:30 ‐ 12:00 Platform Session VI: Mechanisms of Degeneration II Moderators: Janet Sparrow and John Hulleman 10:30 ‐ 11:00 11:00 ‐ 11:30 11:30 ‐ 12:00 Ekaterina Lobanova, Stella Finkelstein, Nikolai Skiba, Vadim Arshavsky Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration Laurie M. Renner, Trevor J. McGill, Tiffany Adevai, Alex Bemis, Jonathon Stoddard, Martha Neuringer Macular degeneration in rhesus monkeys: accelerated progression, increased autofluorescence, and RPE cell death associated with deficiency of Lutein/Zeaxanthin and omega‐3 fatty acids Yan Li, Todd Duncan, Haohua Qian, Lijin Dong, T. Michael Redmond The impaired visual cycle of the hypomorphic RPE65/P25L knockin mouse model is protective under intense light conditions 12:00 ‐ 13:30 LUNCH (Crocker) 13:30 ‐ 15:10 Platform Session VII: RPE I Moderators: Patricia Bacerra and Douglas Vollrath 14:00 ‐ 14:20 14:20 ‐ 14:40 14:40 ‐ 15:10 Olaf Strauß, Claudia Müller, Nestor Mas Gomez, Nadine Reichhart Contribution of ion channels in calcium signaling regulating phagocytosis: maxiK, Cav1.3 and bestrophin‐1 Zsolt Ablonczy, Mohammed Dahrouj, Alexander G. Marneros Progressive dysfunction of the retinal pigment epithelium and retina due to increased VEGF‐A levels Mallika Valapala, Stacey Hose, Imran A. Bhutto, Rhonda Grebe, James T. Handa, Peter A. Campochiaro, Eric Wawrousek, J. Samuel Zigler, Debasish Sinha Regulation of mechanistic target of rapamycin complex1 (mTORC1) signaling in retinal pigment epithelial cells Quentin Rieu, Jonathan Chatagnon, Emeline F. Nandrot Role of scavenger family receptors in the phagocytosis of spent photoreceptor outer segments by RPE cells 15:10 ‐ 15:30 COFFEE BREAK [Coffee, tea, etc. available 15:00 ‐ 16:00] 11
Wednesday
13:30 ‐ 14:00 Schedule & Platform Sessions
(Note: Presenting authors are underlined. Travel Awardees are in bold.) 15:30 ‐ 17:00 Platform Session VIII: Stem Cells Moderators: Dean Bok and Danielle Smith 15:30 ‐ 16:00 16:00 ‐ 16:20 16:20 ‐ 16:40 16:40 ‐ 17:00 Budd A. Tucker, Robert F. Mullins, Edwin M. Stone Production of clinical grade, genetically corrected, autologous iPSC derived photoreceptor precursor cells for the treatment of RP: From CRISPR based genome editing to small dedicated cGMP facilities Christopher J. Tracy, Whitney Young, Jacqueline W. Pearce, Joan R. Coates, Martin L. Katz Ex vivo gene therapy as a directed therapy for progressive retinal degeneration in a canine model of Neuronal Ceroid Lipofuscinosis Yao Li, Wen‐Hsuan Wu, Yi‐Ting Tsai, Stephen Tsang Gene therapy on patient‐specific stem cell lines with membrane frizzled‐
related protein defect Claudia Müller, Timothy A. Blenkinsop, Jeffrey H. Stern, Sally Temple, Silvia C. Finnemann Capacity and molecular mechanism for photoreceptor outer segment phagocytosis of RPE cells derived from adult human RPE stem cells 17:00 ‐ 17:40 Keynote Lecture II: Sally Temple, PhD Endogenous RPE Stem Cells, their Surprising Plasticity and Implications for Therapeutic Applications Introduced by Christian Grimm 17:40 ‐ 18:00 Paul Sieving, Director, National Eye Institute NEI Audacious Goals Initiative Wednesday
17:40 ‐ 18:00 18:00 ‐ 19:30 DINNER BUFFET (Crocker) 19:30 ‐ 22:00 POSTERS (Fred Farr Forum & Patio, Kiln. Sponsored by BrightFocus Foundation) 12
Schedule & Platform Sessions
(Note: Presenting authors are underlined. Travel Awardees are in bold.) Thursday, July 17, 2014 07:30 ‐ 08:30 BREAKFAST (Crocker) [Available for Accomp. Persons until 09:00] 08:30 ‐ 9:30 Platform Session IX: Drug Therapy ‐ Animal Studies Moderators: Baerbel Rohrer and Muayyad Al‐Ubaidi 08:30 ‐ 08:50 08:50 ‐ 09:10 09:10 ‐ 09:30 David A. Parfitt, Monica Aguila, Caroline H. McCulley, Dalila Bevilacqua, Dimitra Athanasiou, Sergey Novoselov, Michael E. Cheetham Pharmacological manipulation of the stress response in retinal degeneration Lei Xu, Huiming Xia, John Ash Metformin protects photoreceptors in mice with the PDE6bRd10 mutation and protects RPE in mice treated with sodium iodate Christopher B. Toomey, Una Kelly, Jindong Ding, Catherine Bowes Rickman A novel complement dysregulated mouse model of age‐related macular degeneration 09:30 ‐ 10:00 Platform Session X: Drug/Device Therapy ‐ Human Studies Moderators: Jacque Duncan and Stephen Daiger 09:30 ‐ 10:00 David G. Birch, Kirsten G. Locke, Lea D. Bennett Long‐term follow‐up of patients with retinitis pigmentosa (RP) receiving sustained‐release CNTF through intraocular encapsulated cell technology implants 10:20 ‐ 10:50 10:50 ‐ 11:20 Wadih Zein, Brett Jeffrey, Henry E. Wiley, Amy Turiff, Santa J. Tumminia, Weng Tao, Ronald A. Bush, Dario Marangoni, Rong Wen, Lisa L. Wei, Paul A. Sieving CNTF effects on CNGB3 achromatopsia: Phase I/II Human Trial Eberhart Zrenner, Bartz‐Schmidt Karl Ulrich, Caroline Chee, Florian Gekeler, Timothy L. Jackson, Robert MacLaren, Janos Nemeth, Helmut Sachs, Katarina Stingl, David Wong, SUBRET Study Group Visual outcome in 26 blind RP‐patients with electronic subretinal implant Alpha‐IMS 13
Thursday
10:00 ‐ 10:20 COFFEE BREAK [Coffee, tea, etc. available 10:00 ‐ 11:00] 10:20 ‐ 11:20 Platform Session X (Continued): Drug/Device Therapy ‐ Human Studies Schedule & Platform Sessions
(Note: Presenting authors are underlined. Travel Awardees are in bold.) 11:20 ‐ 12:00 Keynote Lecture III: SAMUEL G. JACOBSON, MD, PhD A Treatment Trial for an Inherited Retinal Degeneration: What Have We Learned? Introduced by Joe Hollyfield 12:00 ‐ 13:30 LUNCH (Crocker) 13:40 ‐ 15:30 Platform Session XI: RPE II Moderators: T. Michael Redmond and Kimberly Toops 13:40 ‐ 14:10 14:10 ‐ 14:40 14:40 ‐ 15:00 15:00 ‐ 15:30 Michael E. Boulton, Qingwen Qian, Xiaoping Qi, Sayak Mitter, Zhigang Cai, Catherine Bowes Rickman, Maria Grant A non‐canonical role for β‐secretase in AMD Mandy Lambros, Gary O’Mealey, Kendra Plafker, Scott Plafker Interrogating mitochondrial function in RPE health and disease Melissa Ann Calton, Douglas Vollrath Augmentation of retinal pigment epithelium glycolysis mediates retinal degeneration David S. Williams, Julian Esteve, Mei Jiang, Vanda Lopes, Tanja Diemer, Conchi Lillo, Kang Zhang AMD‐like phenotype resulting from defect in RPE intracellular trafficking 15:30 ‐ 15:50 Welcome to RD2016 ‐ John Ash/Nagahisa Yoshimura/Robert E. Anderson Thursday
19:30 ‐ 22:00 DINNER (Merrill Hall & Hearthside) 14
Friday, July 18, 2014 07:30 ‐ 09:00 BREAKFAST (Crocker) Friday
09:00 ‐ 11:00 DEPART 15
RD2014 Poster Presentations Poster Dimensions: Poster Setup: Poster Removal: Poster Schedule: Note: The maximum dimensions of each poster are 45” x 45”, as two posters will be displayed on each side of a 91”‐wide board (x 45” high). All posters should be set up in the Kiln and Fred Farr Forum buildings after registration on Sunday, July 13th. Pins will be provided. Poster boards are also covered with Velcro‐receptive fabric. Posters will be displayed all week and should be removed at the end of the poster session on Wednesday, July 16th. Posters will be presented on Monday, Tuesday, and Wednesday evenings between 7:30 and 10:00 pm. On Monday and Wednesday evenings, presenting authors of an ODD numbered poster should be available in front of the poster between 7:30 and 8:45 pm. Authors of an EVEN numbered poster should be at their poster between 8:45 and 10:00 pm. On Tuesday evening, everyone is free to roam all posters. Presenting authors are underlined; Travel Awardees are shown in bold Therapeutic Approaches Stem Cells and Cell‐based Therapies 3.
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Stem cell‐derived microvesicles: involvement in retinal regeneration? Debora B. Farber A stem cell‐derived model of retinal degeneration associated with Spinocerebellar ataxia type 7 Danielle Claire Smith, Lauren Mary Watson, Robea Ballo, Janine Scholefield, Sally Cowley, Matthew J.A. Wood, Susan H. Kidson, Jacquie Greenberg Mesenchymal stem cell based ex vivo gene therapy approach for X‐linked retinoschisis Emran Bashar, Andrew Metcalfe, Kevin Gregory‐Evans Induced pluripotent stem (iPS) cell‐derived RPE transplants induce immune response in pigs Elliott H. Sohn, Chunhua Jiao, Robert F. Mullins, Edwin M. Stone, Budd A. Tucker 16
Posters
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Cone photoreceptor transplantation as a therapy for retinal degenerative diseases Sheila Smiley*, Stuart Matan‐Lithwick*, Sherry Thurig, Adam Baker, Alan Mears, Catherine Tsilfidis, Valerie Wallace (*co‐first author) Retinal sheet transplantation to restore vision Magdalene J. Seiler, Robert B. Aramant, Biju B. Thomas, Pamela B. Yang, Norman D. Radtke, Hans S. Keirstead Potential mechanisms underlying human retinal pigment epithelial cell osseous metaplasia Janmeet S. Saini, Timothy A. Blenkinsop, Jeffrey H. Stern, Sally Temple Modulation of gliosis using shGFAP and shVimentin to determine its role in photoreceptor transplantation efficiency Claire Hippert, Amanda C. Barber, Anastasios Georgiadis, Anna Graca, James W. Bainbridge, Alexander J. Smith, Jane C. Sowden, Robin R. Ali, Rachael A. Pearson 9. Antisense oligonucleotide‐based therapy for CEP290‐associated LCA Alex Garanto, Lonneke E.M. Duijkers, Ru Xiao, Luk H. Vandenberghe, Rob W.J. Collin 10. Evaluation of ocular gene therapy in an Italian patient affected by Congenital Leber Amaurosis type 2 treated in both eyes Francesco Testa, Albert Maguire, Settimio Rossi, Eric Pierce, Junwei Sun, Alberto Auricchio, Paolo Melillo, Jean Bennett, Francesca Simonelli 11. Reprogramming the human retinal pigment epithelial stem cells (RPESCs) into retinal progenitor cells Qingjie Wang, Jeffrey H. Stern, Sally Temple 12. Functional rescue of retinal degeneration‐associated mutant RPE65s with a L22P, T101I, or L408P substitution in non‐active sites Minghao Jin, Songhua Li, Jane Hu, Heather H. Jin, Tadahide,Izumi, Samuel G. Jacobson, Dean Bok 13. Combinatorial and generic gene therapies for retinal degeneration diseases Wenjun Xiong, Alexandra Garfinkel, Michael Brown, Michael Do, Constance Cepko 14. Prevention of photoreceptor cell degeneration in P23H rats after allele‐specific knockdown of mutant Rhodopsin RNA expression using antisense oligonucleotide (ASO) treatment Susan Murray, Ali Jazayeri, Matthew LaVail, Michael Matthes, Douglas Yasumura, Haidong Yang, Michael McCaleb, Raechel Peralta, Andy Watt, Sue Freier, Brett Monia 17
Posters
Gene Therapy and Antisense 15. Expressing TNFa and repressing Notch signaling are necessary and sufficient to induce Müller glia dedifferentiation and proliferation in the zebrafish retina Clay Conner, Kristin M. Ackerman, Manuela Lahne, Joshua S. Hobgood, David R. Hyde 16. Cre recombinase: you can't live with it, and you can't live without it Yun‐Zheng Le, Meili Zhu, Robert E. Anderson 17. Pharmacological restoration of visual function in zebrafish mutants following HDAC inhibitor treatment. Conor Daly, Eugene Dillon, Lisa Shine, Theresa Heffernan, Gerard Cagney, Breandan N. Kennedy 18. Enhanced systemic administration of the hsp90 inhibitor, 17‐DMAG, retards retinal degeneration in the P23H‐3 rat model Anna‐Sophia Kiang, Anh Nguyen, Kenna Paul, Marian Humphries, G. Jane Farrar, Matthew Campbell, Peter Humphries 19. Different photobiomodulation treatment protocols are retinoprotective in the P23H rat Janis T. Eells, Sandeep Gopalakrishnan, Betsy Abroe, Heather Schmitt, Phyllis Summerfelt, Adam Dubis, Joseph Carroll 20. Opposing effects of valproic acid treatment in four animal models of retinitis pigmentosa Ruanne Y.J. Lai, Zusheng Zong, Beatrice M. Tam, Christopher G. May, Orson L. Moritz 21. Hsp90 inhibition protects against inherited retinal degeneration Mònica Aguilà, Dalila Bevilacqua, Caroline McCulley, Nele Schwarz, Dimitra Athanasiou, Naheed Kanuga, Sergey S. Novoselov, Clemens A.K. Lange, Robin R. Ali, James W. Bainbridge, Carlos Gias, Peter J. Coffey 22. Cone photoreceptor structure in patients with inherited retinal degeneration at 12 months in a randomized trial of sustained‐release ciliary neurotrophic factor Stephanie K. Lynch, Shiri Zayit‐Soudry, Travis C. Porco, Nicolas Sippl‐Swezey, Jennifer Holland, Jaskiran Mann, Jacque L. Duncan 23. Intravitreal CNTF slightly improves residual cone function in CNGB3‐/‐ mouse Dario Marangoni, Vijay Camasamudram, Ronald A. Bush, Lisa L. Wei, Rong Wen, Paul A. Sieving 24. A potential therapeutic strategy for the treatment of autosomal dominant retinitis pigmentosa Matthew Adamowicz, Tony Song, Mike Lukason, Elizabeth DuFresne, Samuel Wadsworth, Seng Cheng, Abraham Scaria, Catherine O’Riordan 18
Posters
Neuroprotection, Small Molecules and Other Approaches 25. Transscleral controlled delivery of geranylgeranylaceton using a polymeric device protects rat retina against light injury Nobuhiro Nagai, Hirokazu Kaji, Toru Nakazawa, Matsuhiko Nishizawa, Toshiaki Abe 26. Exercise and cyclic light preconditioning protect against light‐induced retinal degeneration and evoke similar gene expression patterns. Jeffrey H. Boatright, Micah A. Chrenek, Jana T. Sellers, Eric C. Lawson, Priscila A. Cunha, Cristina Kendall, Moon K. Han, Adam Hanif, Vincent T. Ciavatta, Marissa A. Gogniat, John M. Nickerson, Machelle T. Pardue 27. Small molecule therapy for the treatment of BBS1 associated RP Arlene V. Drack, Robert F. Mullins, Edwin M. Stone, Budd A. Tucker 28. The neuroprotective effects of Bex1 over‐expression in photoreceptor cells Sarah J. Wassmer, Alan J. Mears, Wai Gin Fong, Tristan Brownrigg, Catherine Tsilfidis 29. JNK inhibition reduced retinal cell death after ischemia/reperfusion in vivo and after hypoxia in vitro. Nathalie Produit‐Zengaffinen, Tatiana Favez, Constantin J. Pournaras, Daniel F. Schorderet 30. Heat shock protein 70 induction delays photoreceptor cell death by N‐methyl‐N‐
nitrosourea in mice Yoshiki Koriyama, Kazuhiro Ogai, Kayo Sugitani, Suguru Hisano, Satoru Kato 31. Restoration of sight with photovoltaic subretinal prosthesis Daniel Palanker, Henri Lorach, Georges Goetz, Richard Smith, Xin Lei, Theodore Kamins, Keith Mathieson, James Harris, Alexander Sher 32. Therapeutic targeting of LRG1 for the treatment of pathological angiogenesis in the retina Stephen Moss, Xiaomeng Wang, Vineeta Tripathi, Sterenn Davis, Sabu Abraham, John Greenwood AMD AMD Models, Mechanisms and Therapy Posters
33. Autophagy‐based secretion of ARMS2 Elod Kortvely, Stefanie M. Hauck, Karsten Boldt, Marius Ueffing 34. High levels of SQSTM1/p62 in the macula are associated with age‐related macular degeneration (AMD) Lei Wang, Katayoon Ebrahimi, James T. Handa 19
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Posters
35. Overexpression of HtrA1 and exposure to cigarette smoke evoke choroidal neovascularization and retinal deposits in aged mice Mao Nakayama, Daisuke Iejima, Masakazu Akahori, Junzo Kamei, Asako Goto, Takeshi Iwata 36. Comparative assessment of gliosis and associated changes in the extracellular matrix in murine models of retinal degeneration Anna Graca, Claire Hippert, Robin Ali, Rachael Pearson 37. The effect of 810nm NIL on CSC with lower power irradiated at macula Chao Qu, Fangyu Lin, Wei Lin, Yingchuan Fan, Wei Cao, Chuntao Lei 38. Cigarette smoke treatment induces alterations in protein networks of AMD risk genes Juliane Merl, Fabian Gruhn, Gerrit John‐Schuster, Marius Ueffing, Ali Ö. Yildirim, Stefanie M. Hauck 39. A2E induce a decrease of ERK1/2 phosphorylation possibly via bFGF autocrine effect Delphine Balmer, Linda Wicht, Martine Emery, Daniel Francis Schorderet, Raphaël Roduit 40. Molecular targeting of the TGF‐b type II receptor in the mouse retina causes retinal neovascularization Barbara Maria Braunger, Sarah Verena Leimbeck, Anja Schlecht, Cornelia Volz, Herbert Jägle, Ernst R. Tamm 41. Drusen progression, influence of diet and correlation with cone density in a Japanese macaque model of maculopathy Trevor J. McGill, Laurie M. Renner, Anda Cornea, Mark E. Pennesi, Travis B. Smith, Kay Rittenhouse, Joachim Fruebis, Martha Neuringer 42. Gene‐diet interactions of dietary glycemic index with mouse models of AMD Sheldon Rowan, Min‐Lee Chang, Karen A. Weikel, Barbara A. Nagel, Amanda Carey, Christa Cassalman, Jeffrey S. Thinschmidt, Maria B. Grant, Steven J. Fliesler, Donald Smith, Allen Taylor 43. Reversal of oxidative stress in a mouse model of dry AMD Manas R. Biswal, Zhaoyang Wang, Haoyu Mao, Hong Li, Alfred S. Lewin 44. Therapeutic approaches to histone reprogramming in age‐related macular degeneration Kabhilan Mohan, Andre Berner, Dingyuan Luo, Justin West, Rei Kono, Ilene Sugino, Marco Zarbin, Jayakrishna Ambati, Mark E. Kleinman 45. IL‐18 and its dichotomous role in age‐related macular degeneration Sarah Doyle, Ema Ozaki, Kiva Brennan, Marian Humphries, Kelly Mulfaul, James Keaney, Paul Kenna, Arvydas Maminishkis, Anna‐Sophia Kiang, Ed Lavelle, Clair Gardiner, Padraic Fallon, Pete Adamson, Peter Humphries, Matthew Campbell 46. Characterization of a fovea‐like region of cone photoreceptor packing in the canine retina and its susceptibility to inherited retinal degenerations. William A. Beltran, Artur V. Cideciyan, Karina E. Guziewicz, Simone Iwabe, Malgorzata Swider, Alexander Sumaroka, Samuel G. Jacobson, Gustavo D. Aguirre 47. Retina analysis of mice lacking aryl hydrocarbon receptor (AHR) Soo‐Young Kim, Hyun‐Jin Yang, Yi‐Sheng Cheng, Jung‐Woong Kim, Matthew Brooks, Emily Chew, Robert N. Fariss, Wai T. Wong, Rivka A. Rachel, Haohua Qian, Anand Swaroop. 48. Aging of the retina involves elevated IRE1 signaling and ER stress levels Marcel V. Alavi, Wei‐Chieh Chiang, Heike Kroeger, Douglas Yasumura, Michael T. Matthes, Matthew M. LaVail, Douglas Gould, Jonathan H. Lin 49. Senile local eye amyloidosis ‐ Associated degeneration in the retina in AMD Victor Vladimirovich Ermilov, Nikita Pavlovich Volkov, Alla Anatolyevna Nesterova Complement 50. A potential therapy for bisretinoid‐mediated retinal degeneration by modulating complement regulatory protein expression in the retinal pigment epithelium Roxana A. Radu, Zhichun Jiang, Marcia Lloyd, Dean Bok, and Shanta Sarfare 51. Injury of choriocapillaris endothelial cells by membrane attack complex of complement in AMD: Histological, biochemical and in vitro studies Robert F. Mullins, Budd A. Tucker, Edwin M. Stone 52. Reduced metabolic capacity in aged primary retinal pigment epithelium (RPE) is correlated with increased susceptibility to oxidative and complement‐mediated stress Baerbel Rohrer, Mausumi Bandyopadhyay, Anthony Leonard, Craig C Beeson 53. A novel antibody inhibits the alternative complement system and specifically detects properdin from blood samples Diana Pauly, Benedikt M. Nagel, Jörg Reinders, Tobias Killian, Matthias Wulf, Susanne Ackermann, Boris Ehrenstein, Peter F. Zipfel, Christine Skerka, Bernhard H.F. Weber 54. Polysialic acid controls microglial reactivity and reduces vascular leakage after retinal laser‐damage Marcus Karlstetter, Janine Claude, Albert Caramoy, Bettina Linnartz‐Gerlach, Jens Kopatz, Alexander Aslanidis, Yiner Wang, Johannes Ackermann, Volkmar Gieselmann, Harald Neumann, Thomas Langmann 21
Posters
Microglia, Monocytes and Retinal Macrophages 55. Rapid light‐dependent induction of microglial activation in rods with prolonged phototransduction signaling Emily S. Levine, Helen Wang, Azhar Zam, Pengfei Zhang, Robert J. Zawadzki, Edward N. Pugh, Jr., Marie E. Burns 56. Aging‐related alterations in microglia in the retina and their relevance to age‐related retinal disorders Wenxin Ma, Wai T. Wong 57. Activated microglia whey acidic protein (AMWAP) inhibits microglial NFĸB signaling and reduces laser‐induced choroidal neovascularization Alexander Aslanidis, Marcus Karlstetter, Nikita Ved, Scott Robbie, James W.B. Bainbridge, Robin R. Ali, Ulrich F. Luhmann, Thomas Langmann 58. Translocator protein (18 kDa) (TSPO) is expressed on reactive retinal microglia and modulates microglial inflammation and phagocytosis Rebecca Scholz, Marcus Karlstetter, Caroline Nothdurfter, Alexander Aslanidis, Katharina Moeller, Felicitas Horn, Harald Neumann, Bernhard H.F. Weber, Rainer Rupprecht, Thomas Langmann 59. Characterization of retinal macrophages in stages of age‐related macular degeneration Eleonora M. Lad, Sina Farsiu, Scott W. Cousins, Alan D. Proia 60. Apolipoprotein E inhibits immunosuppression and promotes mononuclear phagocyte survival in the subretinal space Olivier Levy, Bertrand Calippe, Sophie Lavalette, Shulong Hu, José‐Alain Sahel, Xavier Guillonneau, Florian Sennlaub 61. CX3CR1 deficiency exacerbates photoreceptor toxicity of mononuclear phagocyte in a model of subretinal inflammation Shulong Hu, Bertrand Calippe, Sophie Lavalette, Xavier Guillonneau, Florian Sennlaub 62. Early pathogenesis in cone‐only Rpe65‐/‐ / Nrl‐/‐ mice is characterized by inflammatory response and caspase‐independent cell death Sylviane Métrailler, Daniel F. Schorderet, Sandra Cottet 63. MicroRNAS associated with the inflammatory response in a model of retinal degeneration Kartik Saxena, Riccardo Natoli, Matt Rutar, Jan Provis 64. Proinflammatory cytokines increase the expression of Dickkopf‐1 in human retinal pigment epithelial cells in culture R.K. Kutty, W. Samuel, C.N. Nagineni, C. Vijayasarathy, C. Jaworski, T. Duncan, T.M. Redmond 22
Posters
Inflammation 65. Anti‐inflammatory effect of interferon ß signaling in a murine model for AMD‐like retinal degeneration Anika Lueckoff, Albert Caramoy, Marcus Karlstetter, Thomas Langmann 66. Testing of AAV vectors delivering anti‐inflammatory genes to the retina in the endotoxin‐induced uveitis mouse model Cristhian J. Ildefonso, Henrique Jaime, Masmudur M. Rahman, Qiuhong Li, Grant McFadden, Alfred S. Lewin Macular Dystrophies/Inherited Macular Degeneration 67. Retinal Elovl4, VLC‐PUFA biosynthesis and photoreceptor light responses Peter Barabas, Aruna Gorusupudi, Trevor Gulbrandsen, Paul S. Bernstein, David Krizaj 68. Expression of mutant ELOVL4 in the absence of very long chain polyunsaturated fatty acids causes age‐related functional and structural decline in rod but not cone photoreceptors Martin‐Paul Agbaga, Blake Hopiavuori, Feng Li, Nawajes Mandal, Richard S. Brush, Michael H. Elliott, Radha Ayyagari, Robert E. Anderson 69. Synaptic defects in VLC‐PUFA‐deficient mice Lea D. Bennett, Blake R. Hopiavuori, Richard S. Brush, Michael Chen, Matt J. VanHook, Wallace B. Thoreson, Robert E. Anderson 70. Quantifying fundus autofluorescence in recessive Stargardt Disease (STGD1) and Best Vitelliform Macular Dystrophy (BVMD) Janet R. Sparrow, Tobias Duncker, Rando Allikmets, Stephen Tsang, Francois Delori 71. Histopathology of the retina in eyes from a patient with Stargardt disease caused by compound heterozygous ABCA4 mutations Vera L. Bonilha, Mary E. Rayborn, Xiaoping Yang, Brent A. Bell, Meghan J. Marino, Gerald A. Fishman, Joe G. Hollyfield 72. Probing the role of N‐linked glycosylation of fibulin‐3: implications for disease‐
associated R345W fibulin‐3 stability and folding John D. Hulleman, Jeffery W. Kelly 73. Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations Stephanie A. Hagstrom, Vera L. Bonilha, Mary E. Rayborn, Xiaoping Yang, Brent A. Bell, Meghan J. Marino, Gayle J. Pauer, Craig D. Beight, John Chiang, Elias I. Traboulsi, Joe G. Hollyfield 74. Role of activating transcriptional factor 4 in retinal degeneration of ADRP mice Marina Gorbatyuk, Yogesh Bhootada, Sergei Zolotukhin, Oleg Gorbatyuk 23
Posters
Inherited Retinal Degenerations and Photoreceptors 24
Posters
75. Aberrant dolichol chain length distribution in plasma and urine is a biomarker for retinitis pigmentosa associated with dehydrodolichol diphosphate synthase (DHDDS) Genotypes Byron L. Lam, Ziqiang Guan, Potyra R. Rosa, Yiwen Li, Rong Wen 76. A novel approach to identify photoreceptor compartment‐specific tulp1 binding partners Lindsey A Ebke, Gayle J.T. Pauer, Belinda Willard, Stephanie A. Hagstrom 77. Functional evaluation of TULP1 mutations in retinal degeneration for development of novel pharmacoperones Glenn Prazere Lobo, Lindsey Ann Ebke, Stephanie Ann Hagstrom 78. CNTF‐triggered cell‐to‐cell signaling events in a retinitis pigmentosa model Xian‐Jie Yang, Kun‐Do‐Rhee, Kevin Chao, Steve Nusinowitz, Dean Bok 79. Glycosylation of rhodopsin: Keeper of the gate to the outer segments Muayyad Al‐Ubaidi 80. Photoreceptor structure, function and retinal gene expression in the canine NPHP5 LCA ciliopathy model Gustavo D. Aguirre, Sem Genini, Louise M. Downs, Erin M. Scott, Simone Iwabe, William A. Beltran 81. An expression quantitative trait locus modifies Mertk‐associated retinal degeneration Douglas Vollrath, Douglas Yasumura, Wei Feng, Michael Matthes, Gillie Ben‐Chorin, Natalie Nguyen, Cecilia Sedano, Melissa A. Calton, Matthew M. LaVail 82. Increased function of protein kinase G contributes to cone death in cyclic nucleotide‐
gated channel deficiency Xi‐Qin Ding, Hongwei Ma, Arjun Thapa, Lynsie Morris, Mirja Koch, Martin Biel, Stylianos Michalakis 83. KAT3 acetyltransferases, CRX and photoreceptor gene expression Anne K. Hennig, Shiming Chen 84. Genetic ablation of DHDDS induces photoreceptor degeneration Yiwen Li, Byron L. Lam, Ying Li, Zhengying Wang, Yun Le, Rong Wen 85. Retinal degeneration and abnormal ERG in transgenic mice carrying the DHDDS K42E mutation Rong Wen, Byron L. Lam, Ziqiang Guan, Ning Wang, Yihui Chen, Zhengying Wang, Yiwen Li 86. A tool for predicting disease genes associated with dominant retinal degenerations Beryl Royer‐Bertrand, Silvio Alessandro Di Gioia, Carlo Rivolta 25
Posters
87. Allele‐specific overexpression of mutant CRX is caused by altered mRNA stability in a mouse model for CRX‐linked dominant retinopathy Shiming Chen, Nicholas M.A. Tran 88. The Japanese whole exome analysis project for hereditary retinal diseases Takeshi Iwata 89. The complex of proteins associated with BBS5 in photoreceptor outer segments W. Clay Smith, Susan N. Bolch, Donald R. Dugger, Reshmi Mathew, Gina D'Ambrosio, Alyssa Berger, J. Hugh McDowell, Uwe Wolfrum 90. Non‐genetic models of retinal degeneration Henri Lorach, Yossi Mandel, Jennifer Kung, Roopa Dalal, Philip Huie, Daniel Palanker 91. Endoplasmic reticulum‐associated degradation of mutant rod opsin disrupts the protein homeostasis of photoreceptor cells during retinal degeneration Wei‐Chieh Chiang, Heike Kroeger, Carissa Messah, Douglas Yasumura, Michael T. Matthes, Sanae Sakami, Krzysztof Palczewski, Matthew M. LaVail, Jonathan H. Lin 92. Isolation and characterization of autophagosomes in retina, the possible role of autophagy in cone degeneration Seifollah Azadi, Robert E. Anderson, Raju V.S. Rajala 93. Arl3 rod‐specific knockout displays RP‐like photoreceptor degeneration Christin Hanke, Houbin Zhang, Jeanne M. Frederick, Wolfgang Baehr 94. Histopathology of the retina in eyes from patients with digenic usher syndrome caused by USH2A and GPR98 mutations Joe G. Hollyfield, Vera L. Bonilha, Mary E. Rayborn, Mary E. Rayborn, Brent A. Bell, Xiaoping Yang, Meghan J. Marino, William J. Kimberling, Elias I. Traboulsi, Stephanie A. Hagstrom 95. A mouse model of NMNAT1 Leber congenital amaurosis Scott H. Greenwald, Mike Bowl, Magdalena Staniszewska, Eric A. Pierce 96. Age‐related cone degeneration involves cone arrestin (Arr4) expression Cheryl Mae Craft, Joseph S. Pak, Janise D. Deming, Eun‐Jin Lee, Bruce M. Brown 97. Identification of a novel gene on 10q22 causing autosomal dominant retinitis pigmentosa Stephen P. Daiger, Lori S. Sullivan, Sara J. Bowne, Daniel C. Koboldt, Susan H. Blanton, Rui Chen, Richard A. Lewis, David G. Birch 98. X‐chromosome inactivation in X‐linked retinitis pigmentosa Abigail T. Fahim, Dianna H. Wheaton, Kaylie D. Webb, Mohammad Othman, Sara J. Bowne, Lori S. Sullivan, Kerby A. Shedden, Athanasios J. Karoukis, John R. Heckenlively, David G. Birch, Stephen P. Daiger 26
Posters
99. Blue light‐induced cone cell death and edema formation in the retina of the R91W;Nrl‐/‐ mouse Marijana Samardzija, Philipp Geiger, Maya Barben, Christian Grimm 100. Mechanistic studies of retinitis pigmentosa in genetic models Chun‐hong Xia, Haiquan Liu, Mei Li and Xiaohua Gong 101. Loss of cones and cone function is a sustained low‐level light damage model of retina degeneration Molly E. Clark, Glen S. Rubin, Timothy W. Kraft 102. Classification of Rhodopsin mutations by integrated in silico and in vitro characterization and screening of chaperone molecules to rescue Rhodopsin misfolding Valeria Marigo, Petra Behnen, Angelo Felline, Francesca Fanelli 103. In Vivo functionality of the RDS C‐terminal Shannon M. Conley, Justin L. Burnett, Dibyendu Chakraborty, Muna I. Naash 104. In‐depth functional diagnostics of mouse models by the conventional single‐flash and a novel mesopic flicker ERG paradigm Naoyuki Tanimoto, Stylianos Michalakis, Bernhard H.F. Weber, Christian A. Wahl‐
Schott, Hans‐Peter Hammes, Mathias W. Seeliger 105. Phenotypic variability of SLC24A1‐related retinopathy Ajoy Vincent, Elise Heon 106. Cell cycle proteins and epigenetic modifications during photoreceptor degeneration Yvan Arsenijevic, Karine Schouwey, Sarah Decembrini 107. Leber congenital amaurosis with NMNAT1 mutations Akira Murakami, Shuri Kawamorita, Takuro Fujimaki, Mineo Kondo, Sumiko Watanabe 108. Phenotypes and genotypes of x‐linked congenital retinoschisis in children born during 1993‐2009 in Finland Sirkka‐Liisa Rudanko, Arja Laitinen, Kristiina Avela, Riitta Salonen‐Kajander 109. Retinal dopamine receptor D4 (Drd4) regulation requires two arrestins Janise D. Deming, Kayleen Lim, Bruce M. Brown, Cheryl M. Craft 110. An Intronic SINE insertion in FAM161A that causes exon‐skipping is associated with progressive retinal atrophy in Tibetan spaniels and Tibetan terriers Louise M. Downs, Cathryn S. Mellersh 111. Intra‐familial similarity of wide‐field autofluorescence in retinitis pigmentosa and cone‐rod dystrophy Ken Ogino, Yuka Furutani, Akio Oishi, Nagahisa Yoshimura 27
Posters
112. The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: A totally different mutation profile with the lack of frequent mutations found in caucasian patients Katsuhiro Hosono, Yang Zhao, Kimiko Suto, Chie Ishigami, Yuuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima, Yoshihiro Hotta 113. Retbindin is a novel photoreceptor‐specific protein and a member of the inter‐
photoreceptor matrix Ryan A. Kelley, Muayyad R. Al‐Ubaidi, Muna I. Naash 114. Non‐redundant roles of PGC‐1a and PGC‐1b in retinal sensitivity to light damage Carolina E. Abrahan, John D. Ash 115. nNOS/NO as a trigger of the MNU‐induced photoreceptor cell death Suguru Hisano, Yoshiki Koriyama, Kazuhiro Ogai, Kayo Sugitani, Satoru Kato 116. RetinoGenetics: A comprehensive mutation database for genes related to inherited retinal degeneration Xiu‐Feng Huang, Zi‐Bing Jin 117. Comprehensive molecular diagnosis of patients with inherited retinal degeneration by targeted resequencing Akio Oishi, Maho Oishi, Norimoto Gotoh, Ken Ogino, Yukiko Makiyama, Nagahisa Yoshimura 118. Prospective cohort study in achromatopsia Frederick T. Collison, Gerald A. Fishman, Richard G. Weleber, Joseph Carroll, Christopher S. Langlo, Jeffrey D. Chulay 119. Identification of a novel gene linked to autosomal recessive retinitis pigmentosa Zi‐Bing Jin, Xiu‐Feng Huang, Jia Qu 120. Retinal mutants from the Translational Vision Research Models (TVRM) chemical mutagenesis program at The Jackson Laboratory Patsy M. Nishina, Wanda Hicks, Jeremy R. Charette, Mark P. Krebs, Lisa Stone, Jieping Wang, Bo Chang, Juergen K. Naggert 121. Molecular characterization of novel compound heterozygous mutants associated with Leber congenital amaurosis in Chinese family Yuriko Minegishi, Hunlun Sheng, Kazutoshi Yoshitake, Yuri Sergeev, Masaaki Furuno, Wenjun Zhuang, Yani Liu, Weining Rong, Kazuho Ikeo, Takeshi Iwata 122. Y141C in RDS leads to the formation of unique high molecular weight complexes: a clue to the associated pattern dystrophy Michael W. Stuck, Shannon M. Conley, Muna I. Naash RPE 131. Opposite roles of MerTK ligands Gas6 and Protein S for RPE phagocytosis regulation Celia Parinot, Jonathan Chatagnon, Emeline F. Nandrot 132. ApoE in the RPE: can isoform‐specific actions contribute to cellular pathology Kimberly A. Toops, Li Xuan Tan, Aparna Lakkaraju 28
Posters
123. Genetic diagnostic testing: selective exon capture or whole exome sequencing? Kinga M. Bujakowska, Mark B. Consugar, Daniel Navarro‐Gomez, Emily M. Place, Maria E. Sousa, Zoe D. Fonseca‐Kelly, Maria Janessian, Dan Yi Wang, Elizabeth D. Au, Anne B. Fulton, Janey L. Wiggs, Xiaowu Gai, Eric A. Pierce 124. Tetratricopeptide repeat domain 21B (TTC21B) is required for the organization and maintenance of outer segment structure Qin Liu, Magdalena Staniszewska, Daniel Taub, Eric Pierce 125. Rapid photoreceptor degeneration occurs in zebrafish arl13b mutants following suppression of PCP signaling Brian D. Perkins, Ping Song, Lynn Dudinsky 126. The LKB1‐AMPK pathway regulates photoreceptor synaptic organization in old age Melanie A. Samuel, P. Emanuela Voinescu, Brendan N. Lilley, Rafa de Cabo, Marc Foretz, Benoit Viollet, Basil Pawlyk, Michael Sandberg, Demetrios G. Vavvas, Joshua R. Sanes 127. Thyroid hormone signaling regulates cone viability in mouse models of retinal degeneration Hongwei Ma, Arjun Thapa, Lynsie Morris, T. Michael Redmond, Wolfgang Baehr, Xi‐Qin Ding 128. Retbindin is a novel photoreceptor‐specific protein and a member of the inter‐
photoreceptor matrix Ryan A. Kelley, Muayyad R. Al‐Ubaidi, Muna I Naash 129. Receptor expression enhancing protein (REEP) 6 is required for rod photoreceptor homeostasis Bibhudatta Mishra, Shobi Veleri, Souparnika H. Manjunath, Jacob Nellissery, Lijin Dong, Tiansen Li, Anand Swaroop 130. Dynamics of rod photoreceptor transcriptome during retinal development and disease pathogenesis Jung‐Woong Kim, Hyun‐Jin Yang, Matthew Brooks, Alexis Boleda, Linn Gieser, Norimoto Gotoh, Raphael Villasmil, Bibhudatta Mishra, Koray Kaya, Jennifer Barb, Vijender Chaitanker, Peter Munson, Tiziana Cogliati, and Anand Swaroop 133. Stargardt‐3 macular degeneration: Defective processing of photoreceptor outer segments by RPE cells Roni Hazim, Julian Esteve‐Rudd, Tanja Diemer, Kang Zhang, David Williams 134. Dysfunction of NHE8 leads to defective RPE cells and retinal degeneration Xiaohua Gong, Chun‐hong Xia, Haiquan Liu, Debra Cheung 135. P38 mediates anti‐apoptotic effect of valproic acid following oxidative damage in human retinal pigment epithelial cells Piyush C. Kothary, Benjamin Rossi, Monte A. Del Monte 136. A primary RPE cell culture model to study early mechanisms of macular degeneration Rosario F. Godino, Eric A. Pierce, Donita L. Garland 137. Pigment epithelium‐derived factor receptor (PEDF‐R): novel inhibitor of 5‐
lipoxygenase (5‐LOX) Preeti Subramanian, Emily Mendez, S. Pat Becerra 138. Changes of EGF and HB‐EGF during photoreceptor regeneration in MNU‐induced retinal degeneration model using zebrafish Kazuhiro Ogai, Suguru Hisano, Kayo Sugitani, Yoshiki Koriyama, Satoru Kato 139. Cell cycle proteins and epigenetic modifications during photoreceptor degeneration Yvan Arsenijevic, Karine Schouwey, Sarah Decembrini 140. Impact of Lyst and Dock7 mutations on retinal pigment epithelial cells Xiaojie Ji, Bo Chang, Mark P. Krebs, Jürgen K. Naggert, Patsy M. Nishina 141. F‐actin regulation during phagocytosis of photoreceptor outer segment fragments by retinal pigment epithelial cells Yingyu Mao, Silvia C. Finnemann
142. Role of Wnt/β‐catenin signal transduction pathway in the differentiation of human retinal pigment epithelial cells W. Samuel, R.K. Kutty, T. Duncan, E. Poliakov, C. Jaworski, T.M. Redmond 143. RPE cell and sheet properties in normal and diseased eyes John M. Nickerson, Karen I. Mazitello, Alia Rashid, Shagun K. Arora, Micah A. Chrenek, Qing Zhang, Jeffrey H. Boatright, Hans E. Grossniklaus, Yi Jiang Posters
144. Protection of the health and structural integrity of RPE in the vldlr null mouse Xue Cai, Steven A. Sezate, Jiali Dong, Lijuan Chen, Quentin N. Pye, Sudipta Seal, James F. McGinnis 29
Inner Retina 145. Retinal regeneration by Lgr5+ amacrine cells in adult mammals: Implications for age‐
related retinal degenerative diseases Mengfei Chen, Shenghe Tian, Nathan G. Glasgow, Gregory Gibson, Xiaoling Yang, Christen E. Shiber, Igor Nasokin, James Funderburgh, Simon Watkins, Jon W. Johnson, Joel S. Schuman, Hongjun Liu 146. Calcium signaling integrates mechanical and chemical signals in mouse RGCs in a model for sensory transduction in glaucoma Peter Barabas, Daniel Ryskamp, Erik Soderborg, Andrew Oh Jo, David Krizaj 147. A comparative study of Neuroglobin expression in mouse and zebrafish retina after optic nerve injury Kayo Sugitani, Yoshiki Koriyama, Kazuhiro Ogai, Keisuke Wakasugi, Satoru Kato 148. Investigation and comparison of retinal nerve fiber swelling in retinal dystrophies and occult optic neuropathy John R. Heckenlively, Thiran Jayasundera, Naheed Khan, Cameron Strong, Kari E. Branham, Timothy Steffens 149. Timed demethylation of Bhlhb4 locus H3K27me3 modification by Jmjd3 in specific subsets of retinal cells allows maturation of rod ON‐bipolar cells Sumiko Watanabe, Toshiro Iwagawa, Yukihiro Baba, Akira Murakami 150. Characterization and reversal of synaptic defects in a mouse model of XLRS Vijay Camasamudram, Jingxing Ou, Shan Chen, Yong Zeng, Dario Marangoni, Ronald A. Bush, Lisa L. Wei, Wei Li, Paul A. Sieving 151. Early Müller cell and vascular defects in a mouse model of X‐linked juvenile retinoschisis John D. Ash, Huiming Xia, YingXiang Huang 152. Flood‐illuminated adaptive optics camera performance in subjects with retinitis pigmentosa Michael J. Gale, Shu Feng, Hope E. Titus, Travis B. Smith, Mark E. Pennesi 153. Repeatability of cone spacing measures in eyes with inherited retinal degenerations Shiri Zayit‐Soudry, Nicolas Sippl‐Swezey, Travis Porco, Stephanie Lynch, Reema Syed, Kavitha Ratnam, Moreno Menghini, Austin J. Roorda, Jacque L. Duncan 154. High‐resolution assessment of cone photoreceptor structure and function in macular telangiectasia (MacTel) type 2 Qinyun Wang, William S. Tuten, Brandon J. Lujan, Jennifer Holland, Paul S. Bernstein, Steven D. Schwartz, Jacque L. Duncan, Austin J. Roorda 30
Posters
In vivo Imaging Posters
155. Photoreceptor mosaic variability in RPGR‐associated retinal dystrophy Adam M. Dubis, Jonathan Aboshiha, Rola BaAbbad, Adam Pack, Ranjit S. Samra, Ganeshan Ramsamy, Yusufu Sulai, Alfredo Dubra, Andrew Webster, Joseph Carroll, Michel Michaelides 156. In vivo imaging of retinal pigment epithelium cell death using a novel fluorescent probe targeting caspases Kabhilan Mohan, Yoshio Hirano, Andre Berner, Dingyuan Lou, Chad Jackson, Jennifer Brown, Gary Johnson, Jayakrishna Ambati, Mark Kleinman 157. Changes in SD‐OCT cyst volume measurements in a prospective cohort study in X‐
linked retinoschisis Mark E. Pennesi, David G. Birch, John R. Heckenlively, Ou Tan, Joycelin Niimi, Kirsten G. Locke, Lea D. Bennett, Naheed W. Khan, Paul Yang, Thiran Jayasundera, Richard G. Weleber, Jeffrey D. Chulay 158. Correlation of photoreceptor structure with autofluorescence in retinal degeneration associated with ABCA4 mutations Kimberly E. Stepien, Fouad R. Zakka, Drew H. Scoles, Benjamin S. Liu, Robert F. Cooper, Christopher S. Langlo, Thomas B. Connor, Alfredo Dubra, Joseph Carroll 159. Imaging cone inner segment structure in Achromatopsia using split detector AOSLO Christopher S. Langlo, Drew H. Scoles, Gerald A. Fishman, David M. Gamm, Michael Struck, John Chiang, Alfredo Dubra, Joseph Carroll 31
RD2014 Sponsors We are grateful to the following organizations for their generous support of this meeting. National Eye Institute Foundation Fighting Blindness Pro Retina Germany Fritz Tobler Foundation Switzerland
Sponsors
BrightFocus Foundation
We also thank Ed and Sandy Gollob for their generous support. 32