Retinal Degenerative Diseases: Laboratory and Therapeutic Investigations

ISBN-13: 9781441913982 / Angielski / Twarda / 2010 / 714 str.

Robert E. Anderson; Joe G. Hollyfield; Matthew M. Lavail

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TheInternationalSymposiumonRetinalDegenerationhasbeenheldinconjunction withthebiennialInternationalCongressofEyeResearch(ICER)since1984. These RDSymposiahaveallowedbasicandclinicianscientistsfromaroundtheworldto conveneandpresenttheirnewresearch?ndings. Theyhavebeenorganizedtoallow suf?cienttimefordiscussionsandone-on-oneinteractionsinarelaxedatmosphere, whereinternationalfriendshipsandcollaborationscanbefostered. The XIII International Symposium on Retinal Degeneration (also known as RD2008) was held from September 18-23, 2008 at the Hong Zhu Shan Hotel at thefootofEmeiMountainintheSichuanProvinceofChina, nearChengdu. The meeting brought together 152 basic and clinician scientists, retinal specialists in ophthalmology, andtraineesinthe?eldfromallpartsoftheworld. Inthecourse ofthemeeting,42platformand88posterpresentationsweregiven, andamajority ofthesearepresentedinthisproceedingsvolume. Newdiscoveriesandstateofthe art?ndingsfrommostresearchareasinthe?eldofretinaldegenerationswerep- sented. TheRD2008meetingwashighlightedbythreespeciallectures. The?rstwas givenby Glen Prusky, PhD, WeillCornellMedicalCollegeofCornellUniversity, New York City, NY. Dr. Prusky discussed the measures of vision in rodents as a tool for evaluating the treatment of retinal degenerative diseases. The second was given by Kang Zhang, MD, PhD, on the molecular genetics of Stargardt's Disease. Dr. Zhang's undergraduate degree in biochemistry is from West China University in Chengdu, and he currently is at the Shiley Eye Center, University ofCaliforniaatSanDiego, SanDiego, CA. Thethirdplenarylecturewasgivenby Peter Campochiaro, MD, oftheWilmerEyeInstitute, JohnsHopkinsUniversity, Baltimore, MD. Dr. Campochiaro discussed the role of oxidant stress in macular degeneration. This Symposium would not have been possible without the support of our colleagues at the Sichuan People's Provincial Hospital and the Department of Ophthalmology of West China Hospital, Sichuan University. Fan Ying Chuan, MD, ViceChairman, SichuanOphthalmologySociety, DirectorofOphthalmology Department, SichuanAcademyofMedicalScience&SichuanProvincialPeople's Hospitaland Chen Xiao Ming, MD, Chairman, SichuanOphthalmologySociety, Director of West China Eye Center, West China Hospital, Sichuan University, gave tirelessly to our effort from the beginning. We are especially grateful to the ix x Preface administration of the Sichuan People's Provincial Hospital, which provided the ?nancialguaranteesnecessarytosecurethemeetingvenue. Theassistanceof Chen Hui (Robert), MD, of the SPPH throughout the planning and the meeting itself were of enormous help to us.

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Basic Science Underlying Retinal Degeneration.- Analysis of Genes Differentially Expressed During Retinal Degeneration in Three Mouse Models.- Regulation of Angiogenesis by Macrophages.- Protein Kinase C Regulates Rod Photoreceptor Differentiation Through Modulation of STAT3 Signaling.- Pigment Epithelium-derived Factor Receptor (PEDF-R): A Plasma Membrane-linked Phospholipase with PEDF Binding Affinity.- The Function of Oligomerization-Incompetent RDS in Rods.- The Association Between Telomere Length and Sensitivity to Apoptosis of HUVEC.- Photoreceptor Guanylate Cyclases and cGMP Phosphodiesterases in Zebrafish.- RDS in Cones Does Not Interact with the Beta Subunit of the Cyclic Nucleotide Gated Channel.- Increased Expression of TGF-?1 and Smad 4 on Oxygen-Induced Retinopathy in Neonatal Mice.- ZBED4, A Novel Retinal Protein Expressed in Cones and Müller Cells.- Tubby-Like Protein 1 (Tulp1) Is Required for Normal Photoreceptor Synaptic Development.- Growth-Associated Protein43 (GAP43) Is a Biochemical Marker for the Whole Period of Fish Optic Nerve Regeneration.- Multiprotein Complexes of Retinitis Pigmentosa GTPase Regulator (RPGR), a Ciliary Protein Mutated in X-Linked Retinitis Pigmentosa (XLRP).- Misfolded Proteins and Retinal Dystrophies.- Neural Retina and MerTK-Independent Apical Polarity of ?v?5 Integrin Receptors in the Retinal Pigment Epithelium.- Mertk in Daily Retinal Phagocytosis: A History in the Making.- The Interphotoreceptor Retinoid Binding (IRBP) Is Essential for Normal Retinoid Processing in Cone Photoreceptors.- Aseptic Injury to Epithelial Cells Alters Cell Surface Complement Regulation in a Tissue Specific Fashion.- Role of Metalloproteases in Retinal Degeneration Induced by Violet and Blue Light.- Mitochondrial Decay and Impairment of Antioxidant Defenses in Aging RPE Cells.- Ciliary Transport of Opsin.- Effect of Hesperidin on Expression of Inducible Nitric Oxide Synthase in Cultured Rabbit Retinal Pigment Epithelial Cells.- Profiling MicroRNAs Differentially Expressed in Rabbit Retina.- Unexpected Transcriptional Activity of the Human VMD2 Promoter in Retinal Development.- Microarray Analysis of Hyperoxia Stressed Mouse Retina: Differential Gene Expression in the Inferior and Superior Region.- Photoreceptor Sensory Cilia and Inherited Retinal Degeneration.- Role of Elovl4 Protein in the Biosynthesis of Docosahexaenoic Acid.- Molecular Genetics and Candidate Genes.- Molecular Pathogenesis of Achromatopsia Associated with Mutations in the Cone Cyclic Nucleotide-Gated Channel CNGA3 Subunit.- Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden.- 1 Rhodopsin Mutations in Congenital Night Blindness.- GCAP1 Mutations Associated with Autosomal Dominant Cone Dystrophy.- Genotypic Analysis of X-linked Retinoschisis in Western Australia.- Mutation Frequency of IMPDH1 Gene of Han Population in Ganzhou City.- Diagnostic, Clinical, Cytopathological and Physiologic Aspects of Retinal Degeneration.- Reversible and Size-Selective Opening of the Inner Blood-Retina Barrier: A Novel Therapeutic Strategy.- Spectral Domain Optical Coherence Tomography and Adaptive Optics: Imaging Photoreceptor Layer Morphology to Interpret Preclinical Phenotypes.- Pharmacological Manipulation of Rhodopsin Retinitis Pigmentosa.- Targeted High-Throughput DNA Sequencing for Gene Discovery in Retinitis Pigmentosa.- Advances in Imaging of Stargardt Disease.- Protamine Sulfate Downregulates Vascular Endothelial Growth Factor (VEGF) Expression and Inhibits VEGF and Its Receptor Binding in Vitro.- Computer-Assisted Semi-Quantitative Analysis of Mouse Choroidal Density.- Thioredoxins 1 and 2 Protect Retinal Ganglion Cells from Pharmacologically Induced Oxidative Stress, Optic Nerve Transection and Ocular Hypertension.- Near-Infrared Light Protect the Photoreceptor from Light-Induced Damage in Rats.- BDNF Improves the Efficacy ERG Amplitude Maintenance by Transplantation of Retinal Stem Cells in RCS Rats.- The Role of Purinergic Receptors in Retinal Function and Disease.- Macular Degeneration.- Fundus Autofluorescence Imaging in Age-Related Macular Degeneration and Geographic Atrophy.- Endoplasmic Reticulum Stress as a Primary Pathogenic Mechanism Leading to Age-Related Macular Degeneration.- Proteomic and Genomic Biomarkers for Age-Related Macular Degeneration.- Impaired Intracellular Signaling May Allow Up-Regulation of CTGF-Synthesis and Secondary Peri-Retinal Fibrosis in Human Retinal Pigment Epithelial Cells from Patients with Age-Related Macular Degeneration.- PPAR Nuclear Receptors and Altered RPE Lipid Metabolism in Age-Related Macular Degeneration.- The Pathophysiology of Cigarette Smoking and Age-Related Macular Degeneration.- Oxidative Stress and the Ubiquitin Proteolytic System in Age-Related Macular Degeneration.- Slit-Robo Signaling in Ocular Angiogenesis.- Animal Models of Retinal Degeneration.- Evaluation of Retinal Degeneration in P27KIP1 Null Mouse.- Differences in Photoreceptor Sensitivity to Oxygen Stress Between Long Evans and Sprague-Dawley Rats.- Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Thinking Beyond Cholesterol Deficiency.- Do Calcium Channel Blockers Rescue Dying Photoreceptors in the Pde6b rd1 Mouse?.- Effect of PBNA on the NO Content and NOS Activity in Ischemia/Reperfusion Injury in the Rat Retina.- Recent Insights into the Mechanisms Underlying Light-Dependent Retinal Degeneration from X. Laevis Models of Retinitis Pigmentosa.- A Hypoplastic Retinal Lamination in the Purpurin Knock Down Embryo in Zebrafish.- Functional Changes in Inner Retinal Neurons in Animal Models of Photoreceptor Degeneration.- Photoreceptor Cell Degeneration in Abcr –/– Mice.- Investigating the Mechanism of Disease in the RP10 Form of Retinitis Pigmentosa.- Congenital Stationary Night Blindness in Mice – A Tale of Two Cacna1f Mutants.- Protection of Photoreceptors in a Mouse Model of RP10.- Correlation Between Tissue Docosahexaenoic Acid Levels and Susceptibility to Light-Induced Retinal Degeneration.- Activation of Müller Cells Occurs During Retinal Degeneration in RCS Rats.- Effect of 3?-Daidzein Sulfonic Sodium on the Anti-oxidation of Retinal Ischemia/Reperfusion Injury in Rats.- Structural and Functional Phenotyping in the Cone-Specific Photoreceptor Function Loss 1 (cpfl1) Mouse Mutant – A Model of Cone Dystrophies.- The Differential Role of Jak/Stat Signaling in Retinal Degeneration.- Neuroprotection and Gene Therapy.- Gene Therapy in the Retinal Degeneration Slow Model of Retinitis Pigmentosa.- PEDF Promotes Retinal Neurosphere Formation and Expansion In Vitro.- A Multi-Stage Color Model Revisited: Implications for a Gene Therapy Cure for Red-Green Colorblindness.- Achromatopsia as a Potential Candidate for Gene Therapy.- Function and Mechanism of CNTF/LIF Signaling in Retinogenesis.- gp130 Activation in Müller Cells is Not Essential for Photoreceptor Protection from Light Damage.- Neuroprotectin D1 Modulates the Induction of Pro-Inflammatory Signaling and Promotes Retinal Pigment Epithelial Cell Survival DuringOxidative Stress.- Adeno-Associated Virus Serotype-9 Mediated Retinal Outer Plexiform Layer Transduction is Mainly Through the Photoreceptors.

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Robert E. Anderson, MD, PhD, is George Lynn Cross Research Professor, Dean A. McGee Professor of Ophthalmology, and Adjunct Professor of Biochemistry & Molecular Biology and Geriatric Medicine at The University of Oklahoma Health Sciences Center in Oklahoma City, Oklahoma. He is also Director of Research at the Dean A. McGee Eye Institute. He received his Ph.D. in Biochemistry (1968) from Texas A&M University and his M.D. from Baylor College of Medicine in 1975. In 1968, he was a postdoctoral fellow at Oak Ridge Associated Universities. At Baylor, he was appointed Assistant Professor in 1969, Associate Professor in 1976, and Professor in 1981. He joined the faculty of the University of Oklahoma Health Sciences Center in January of 1995. He has received several honorary appointments including Visiting Professor, West China School of Medicine, Sichuan University, Chengdu, China; Honorary Professorship, Xi’an Jiaotong University, Xi’an, China; and Honorary Professor of Sichuan Medical Science Academy, Sichuan Provincial People’s Hospital, Sichuan, China. Dr. Anderson has received the Sam and Bertha Brochstein Award for Outstanding Achievement in Retina Research from the Retina Research Foundation (1980), and the Dolly Green Award (1982) and two Senior Scientific Investigator Awards (1990 and 1997) from Research to Prevent Blindness, Inc. He received an Award for Outstanding Contributions to Vision Research from the Alcon Research Institute (1985), and the Marjorie Margolin Prize (1994). He has served on the editorial boards of Investigative Ophthalmology and Visual Science, Journal of Neuroscience Research, Neurochemistry International, Current Eye Research, and Experimental Eye Research. Dr. Anderson has published extensively in the areas of lipid metabolism in the retina and biochemistry of retinal degenerations. He has edited 14 books, 13 on retinal degenerations and one on the biochemistry of the eye. Dr. Anderson has received grants from the National Institutes of Health, The Retina Research Foundation, the Foundation Fighting Blindness, and Research to Prevent Blindness, Inc. He has been an active participant in the program committees of the Association for Research in Vision and Ophthalmology (ARVO) and was a trustee representing the Biochemistry and Molecular Biology section. He was named a Gold Fellow by ARVO in 2009. He has served on the Vision Research Program Committee and Board of Scientific Counselors of the National Eye Institute and the Board of the Basic and Clinical Science Series of The American Academy of Ophthalmology. Dr. Anderson is a past Councilor, Treasurer, and President of the International Society for Eye Research.

Matthew M. LaVail, PhD, is Professor of Anatomy and Ophthalmology at the University of California, San Francisco School of Medicine. He received his Ph.D. degree in Anatomy (1969) from the University of Texas Medical Branch in Galveston and was subsequently a postdoctoral fellow at Harvard Medical School. Dr. LaVail was appointed Assistant Professor of Neurology-Neuropathology at Harvard Medical School in 1973. In 1976, he moved to UCSF, where he was appointed Associate Professor of Anatomy. He was appointed to his current position in 1982, and in 1988, he also became director of the Retinitis Pigmentosa Research Center at UCSF, later named the Kearn Family Center for the Study of Retinal Degeneration. Dr. LaVail has published extensively in the research areas of photoreceptor-retinal pigment epithelial cell interactions, retinal development, circadian events in the retina, genetics of pigmentation and ocular abnormalities, inherited retinal degenerations, light-induced retinal degeneration, and pharmaceutical and gene therapy for retinal degenerative diseases. He has identified several naturally occurring murine models of human retinal degenerations and has developed transgenic mouse and rat models of others. He is the author of more than 150 research publications and has edited 13 books on inherited and environmentally induced retinal degenerations. Dr. LaVail has received the Fight for Sight Citation (1976); the Sundial Award from the Retina Foundation (1976); the Friedenwald Award from the Association for Research in Vision and Ophthalmology (ARVO, 1981); two Senior Scientific Investigators Awards from Research to Prevent Blindness (1988 and 1998); a MERIT Award from the National Eye Institute (1989); an Award for Outstanding Contributions to Vision Research from the Alcon Research Institute (1990); the Award of Merit from the Retina Research Foundation (1990); the first John A. Moran Prize for Vision Research from the University of Utah (1997); the first Trustee Award from The Foundation Fighting Blindness (1998); and the Llura Liggett Gund Award from the Foundation Fighting Blindness (2007). He has served on the editorial board of Investigative Ophthalmology and Visual Science and as an Executive Editor of Experimental Eye Research. Dr. LaVail has been an active participant in the program committee of ARVO and has served as a Trustee (Retinal Cell Biology Section) of ARVO. He was named a Gold Fellow of ARVO in 2009. He has been a member of the program committee and a Vice President of the International Society for Eye research. He has also served on the Scientific Advisory Board of the Foundation Fighting Blindness since 1973.

Joe G. Hollyfield, PhD, is the Llura and Gordon Gund Professor of Ophthalmology Research in the Cole Eye Institute at The Cleveland Clinic Foundation, Cleveland, Ohio. He received a Ph.D. from the University of Texas at Austin and did postdoctoral work at the Hubrecht Laboratory in Utrecht, The Netherlands. He has held faculty positions at Columbia University College of Physicians and Surgeons in New York City and at Baylor College of Medicine in Houston, Texas. He was Director of the Retinitis Pigmentosa Research Center in The Cullen Eye Institute at Baylor from 1978 until his move to The Cleveland Clinic Foundation in 1995. He is currently Director of the Foundation Fighting Blindness Research Center at The Cleveland Clinic Foundation. Dr. Hollyfield has published over 200 papers in the area of cell and developmental biology of the retina and retinal pigment epithelium in both normal and retinal degenerative tissue. He has edited 14 books, 13 on retinal degenerations and one on the structure of the eye. Dr. Hollyfield received the Marjorie W. Margolin Prize (1981, 1994), the Sam and Bertha Brochstein Award (1985) and the Award of Merit in Retina Research (1998) from the Retina Research Foundation; the Olga Keith Weiss Distinguished Scholars' Award (1981) and two Senior Scientific Investigator Awards (1988, 1994) from Research to Prevent Blindness, Inc.; an award for Outstanding Contributions to Vision Research from the Alcon Research Institute (1987); the Distinguished Alumnus Award (1991) from Hendrix College, Conway, Arkansas; the Endre A. Balazs Prize (1994) from the International Society for Eye Research (ISER); and the Proctor Medal (2009) from the Association for Research in Vision and Ophthalmology (ARVO). He was named a Gold Fellow by ARVO in 2009. He is currently Editor-in-Chief of the journal, Experimental Eye Research published by Elsevier. Dr. Hollyfield has been active in the Association for Research in Vision and Ophthalmology (ARVO) serving on the Program Committee (1976), as Trustee (Retinal Cell Biology, 1989-94), as President (1993-94) and as Immediate Past President (1994-95). He was also President (1988-91) and Secretary (1984-87) of the International Society of Eye Research. He is Chairman of the scientific review panel for the Macular Degeneration program of the American Health Assistance Foundation (Clarksburg, MD), serves on the scientific advisory boards of the Foundation Fighting Blindness (Owings Mills, MD), the Knights Templar Eye Research Foundation (Chicago, IL), the Helen Keller Eye Research Foundation (Birmingham, AL), the South Africa Retinitis Pigmentosa Foundation (Johannesburg, South Africa), and is Co-Chairman of the Medical and Scientific Advisory Board of Retina International (Zurich, Switzerland).