Retinal Degenerative Diseases and Experimental Therapy PDF
Preview Retinal Degenerative Diseases and Experimental Therapy
Retinal Degenerative Diseases and Experimental Therapy Retinal Degenerative Diseases and Experimental Therapy Edited by Joe G. Hollyfield Cak Eye Institute The Cleveland Clinic Foundation Cleveland, Ohio Robert E. Anderson Dean A. McGce Eye Institute University of Oklahoma Health Sciences Center Oklahoma City, Qktahoma and Matthew M. LaVail Beckmon Vision Center University of California, Su~zF rancisco San Francisco, California Kluwer Academic / Plenum Publishers New York, Boston, Dordrecht, London, Moscow Library of Congress Cataloping-in-PublicationD ata Retinal degenerative diseases and experimental therapy / edited by Joe G. Hollyfield, Robert E. Anderson, and Matthew M. LaVail. p. cm. Includes bibliographic references and index. ISBN 0-306-46193-5 1. Retina-Degeneration-Congresses. 2. Photereceptors-Congresses. 3. Retina-Degeneration-Treatment-Congresses. I. Hollyfield, Joe G. 11. Anderson, Robert E. (Robert Eugene) In. LaVail, Matthew, M. [DNLM]: 1. Retinal Degeneration-genetics-Congresses. 2. Photoreceptors-Congresses. 3. Retinal Degeneration-physiopathology-Congresses 4. Retinal Degeneration-therapy-Congresses. WW 270 R438282 19991 RE661.D3 R482 1999 617.7'35 21-dc21 99-040819 Proceedings of the Eighth International Symposium on Retinal Degeneration, held July 20-25, 1998 in Schluchsee, Germany ISBN: 0-306-46193-5 0 1999 Kluwer Academic 1P lenum Publishers, New York 233 Spring Street, New York, N.Y. 10013 A C.I.P. record for this book is available from the Library of Congress All rights reserved NO part of this book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording, or otherwise, without written permission from the Publisher Printed in the United States of America Edward H. Gollob This book is dedicated to Edward H. Gollob, President of the Foundation Fighting Blindness, Hunt Valley, Maryland, USA, for his devotion, commitment, and untiring efforts to bring us closer to the day when there will be no blindness from inherited retinal disorders. PREFACE To create a forum for scientists and clinicians interested in degenerative retinal diseases, we began in 1984 to organize a biennial symposium on Retinal Degeneration as a satellite meeting of the International Congress of Eye Research. The timing and varying location of these meetings provides an important assembly for investigators from throughout the world to convene for presentation of their new findings on the causes and potential therapies for degenerative retinal disorders. The VIII International Symposium on Retinal Degeneration was held from July 28-25, 1998, at the Hotel Vier Jahreszeiten in Schluchsee, a small town in the Black Forest of southwestern Germany. Most of the participants in this meeting contributed to this volume, and we are appreciative of the efforts of each author in making this publication possible. The research presented at the meeting, and described in this proceedings volume, reflects a strong emphasis on the molecular genetic approach to understand- ing these disorders. Several of the papers provide important new insights into the mechanism of photoreceptor degeneration and cell death. A number of the studies are targeted at retarding or reversing the degeneration process. Included for the first time are presentations from all the principal laboratories involved in the field of visual prostheses-implant (chip) technology-in which investigations are targeted at restoring vision in eyes that have lost photoreceptor cells. A variety of diagnostic, clinical, histopathological, and physiological assessments of retinal degeneration in patients are also included. The scope, depth, and variety of approaches toward investigating these disorders, their prevention, and progress toward sight restoration, makes this volume the most up-to-date compendium covering this rapidly progressing field. The symposium received financial support from several agencies. We are very appreciative of the funds provided by the Foundation Fighting Blindness, Hunt Valley, Maryland, for this and all previous symposia, without which we could not have con- vened these important meetings. We also thank the Retinal Preservation Foundation, South Africa; Deutsche Forschungsgemeinschaft, Germany; Pro Retina, Germany; and CIBA Vision, Switzerland, for their important financial help. To Professor Eberhart and Mrs. Claudia Zrenner, our very generous local host and hostess, we extend our heartfelt thanks for a job well done. All the local arrange- ments in Germany were made under their very capable guidance. The Zrenners were assisted by a number of their colleagues in Tiibingen, including: Christine Augustin, Eckart Apfelstedt-Sylla, Dorothea Besch, Klaus-Dieter Miliczek, Marcus Reichl, Stephanie Schaerer, Matthias Seeliger, Elke Guenther, Jens Hartmann, Konrad Kohler, Moritz Meins, Janina Kramer, Ian Giddings, Thomas Wheeler-Schilling, and Bernd viii Preface Wissinger. We thank all of these members of the Local Organizing Committee for their efforts in making this an outstanding symposium. We thank Ms. Roni Isom for her assistance with all the correspondence gener- ated during the two years that the symposium was being organized, and for her help in collating the manuscripts included in this publication. Thanks also go to Kluwer Academic1 Plenum Publishers for publishing this volume. Joe G. Hollyfield Robert E. Anderson Matthew M. LaVail CONTENTS I Specific Gene Defects Cause Photoreceptor Degeneration 1. Evidence for Myosin VIIa-Driven Transport of Rhodopsin in the Plasma Membrane of the Photoreceptor-Connecting Cilium .............. 3 Uwe Wolfrum and ~n~eiiSkcah mitt 2. Blindness in Usher Syndrome 1B: Myosin VIIa in the Retina ........... 15 David S. Williams, Xinran Liu, Gordon Vansant, and Brian Ondek 3. Different Mutations in RPE6.5 Are Associated with Variability in the Severity of Retinal Dystrophy .............................. 27 Christian l? Hamel, Franqoise Marlhens, Jean-Michel Griffoin, Corinne Bareil, Mireille Claustres, and Bernard Arnaud 4. 'IheRPE65Deficient Mouse as a Model for RPE65-Associated Leber's Congenital Amaurosis and Related Disorders .................... 35 T. Michael Redmond 5. CRALBP and Inherited Retinal Degeneration ........................ 43 Breandiin N. Kennedy, John C. Saari, and John W. Crabb 6. Guanylyl Cyclase Genes and Their Role in Retinal Degeneration ........ 55 Hans-Jurgen Fiille and Rima Khankan 7. Loss of Cone and Reduction in Rod ERG Responses in the Guanylyl Cyclase-E (GC-E) Deficient Mouse .................... 67 David G. Birch, Ruey-Bing Yang, Susan W. Robinson, and David L. Garbers 8. Guanylyl Cyclase Gene Is the Disease Locus in the rd Chicken: A Model for Leber Congenital Amaurosis, Type 1 ................ 81 Susan L. Semple-Rowland 9. Leber's Congenital Amaurosis: Clinical Heterogeneity and Electroretinography in 27 Patients ............................ 95 Matthias C. Grieshaber, Eugen Boltshauser, and Giinter Niemeyer Contents 10. Retinal Degeneration Is Accelerated When a Mutant Rhodopsin Transgene Is Expressed on a Haploid or Null Rhodopsin Background ................................................ 105 Jeanne Frederick, Nataliia Krasnoperova, Kirstin Hoffmann, Wolfgang Baehr, Janis Lem, and Klaus Riither 11. Rhodopsin C-Terminal Sequence QVS(A)PA Directs Its Sorting to the ROS in Retinal Photoreceptors ............................. 117 Dusanka Deretic, Sonia Schmerl, Paul A. Hargrave, Anatol Arendt, and J. Hugh McDowell 12. The Cytoplasmic Tail of Rhodopsin Acts as a Sorting Signal in Polarized ............................... Photoreceptors and MDCK Cells 129 Ching-Hwa Sung and Jen-Zen Chuang 13. A Homozygous 1-Base Pair Deletion (1147delA) in the Arrestin Gene in Autosomal Recessive Retinitis Pigmentosa ...................... 145 Mitsuru Nakazawa, Yuko Wada, and Makoto Tamai 14. mRNA Analysis of Oguchi Patients with the Frequent 1147delA Mutation in the Arrestin Gene ................................. 151 Yuko Wada, Mitsuru Nakazawa, Toshiaki Abe, and Makoto Tamai 15. Mutation Spectrum in the REP-1 Gene of Japanese Choroideremia Patients ..................................................... 157 Yoshihiro Hotta, Keiko Fujiki, Mutsuko Hayakawa, Misako Takeda, Nao Kohno, Atsushi Kanai, Yukihiko Mashima, Mikirou Mori, Osamu Okajima, Akira Murakami, Masaru Yoshii, Masayuki Matsumoto, Seiji Hayasaka, Nobuko Tagami, Yasushi Isashiki, and Norio Ohba 16. Phenotype-Genotype Correlations in Retinal Degenerations Caused byABCRGeneMutations .................................... 165 Jean-Michel Rozet, Sylvie Gerber, Imad Ghazi, Isabelle Perrault, Eric Souied, Dominique Ducroq, Annick Cabot, Jean-Louis Dufier, Gabriel Coscas, Gidle Soubrane, Arnold Munnich, and Josseline Kaplan 17. Autosomal Dominant Macular Degeneration Localized to Chromosomes 6q by Linkage Analysis ....................................... 175 1. B. Griesinger, I! A. Sieving, and R. Ayyagari 18. The Gene Product of IMPGl Is the Glycoprotein SPACR, Not an IPM Proteoglycan ...................................... 183 Shreeta Acharya, Ignacio R. Rodriguez, and Joe G. Hollyfield 19. Bardet-Biedl Syndrome: Phenotypic Characteristics Associated with the BBS4 Locus ................................................. 189 Alessandro Iannaccone, Benedetto Falsini, Neena Haider, Giuseppe Del Porto, Edwin M. Stone, and Val C. Sheffield Contents xi 20. Genetic Mapping and Evaluation of PDE6A in 49 Spanish Families with Autosomal Recessive Retinitis Pigmentosa ...................... 201 A. Martinez-Mir, E. Paloma, S. Balcells, L1. Vilageliu, S. J. Pittler, and R. Gonzhlez-Duarte 21. Grading Device for Light Perception with Retinitis Pigmentosa ......... 215 Makoto Tamai, Hiroshi Kunikata, and Masahiro Tsunoda 22. Blue Cone Monochromacy: Macular Degeneration in Individuals with Cone Specific Gene Loss ...................................... 223 Radha Ayyagari, Laura E. Kakuk, Yumiko Toda, Caraline L. Coats, Eve L. Bingham, Janet J. Szczesny, Joost Felius, and Paul A. Sieving 23. The Peripherinlrds Gene: Structural and Functional Analyses .......... 235 Tong Cheng and Muna I. Naash 24. Autosomal Dominant Retinitis Pigmentosa and Hyperopia ............. 251 E. M. Vingolo, R. Allingham, C. Palitto, L. Scipioni, and L. Iacobelli 25. Intraocular Pressure in Tapetoretinal Degenerations ................... 259 E. M. Vingolo, C. Palitto, L. Scipioni, and L. Iacobelli I1 Gene Therapy for Photoreceptor Rescue 26. Ribozymes Directed against Messenger RNAs Associated with Autosomal Dominant Retinitis Pigmentosa ...................... 267 Lynn C. Shaw, Patrick 0.W halen, Kimberly A. Drenser, Wei-Ming Yan, William W. Hauswirth, and Alfred S. Lewin 27. Ribozyme-Mediated Gene Therapy for Autosomal Dominant Retinal Degeneration ................................................ 277 John G. Flannery, Alfred S. Lewin, Kimberly A. Drenser, Shimpei Nishikawa, Douglas Yasumura, Matthew M. LaVail, and William W. Hauswirth 28. Targeting Miiller Cells for Gene Therapy: Gene Regulation Studies ...... 293 Vijay Sarthy I11 The Involvement of Light in Retinal Degeneration 29. Dark Adaptation Is Impaired in Diabetics before Photopic Visual Losses Can Be Seen: Can Hypoxia of Rods Contribute to Diabetic Retinopathy? ................................................ 305 G. B. Arden, J. E. Wolf, J. Collier, C. Wolff, and M. Rosenberg 30. Age and Monocular Enucleation as Potential Determinants of Light Damage in the Mouse Retina .................................. 317 Matthew M. LaVail, Naveen N. Kumar, Gregg M. Gorrin, Douglas Yasumura, and Michael T. Matthes xii Contents 31. Ultraviolet Light Damage and Reversal by Retinoic Acid in Juvenile GoldfishRetina .............................................. De-Mao Chen, Guangjun Dong, and William S. Stark 32. A Comparison of Light-Induced Rod Degeneration in Two Teleost Models ............................................... Donald M. Allen, Chris Pipes, Kristi Deramus, and Ted E. Hallows 33. Regulation of Light Absorption in the Pigmented Rat Retina ........... Theodore P. Williams, Barbara N. Baker, and Janice Dodge 34. An Uncoupling Effect of Reactive Oxygen Species on the Retinal Horizontal Cells ............................................. T. Matsukawa, Z.-Y. Zhou, K. Sugawara, M. Devadas, K. Sugitani, and S. Kato IV Animal Models with Photoreceptor Degeneration 35. Animal Model for Retinitis Pigmentosa: Retinal Degeneration Induced by N-Methyl-N-Nitrosourea in Rodents and Spontaneous Occurrence in rd Gene Carrying Mice ........................... Hiroyuki Nambu, Kenshi Yuge, Motomaro Nakajima, Kanji Takahashi, Hirohiko Miki, Masanobu Uyama, Katsuhiko Yoshizawa, Yoshiko Uemura, and Airo Tsubura 36. Development of Rat Models for Choroidal Neovascularisation (CNV): A Comparison between Laser and Recombinant Adenovirus Induced CNV ............................................... P. E. Rakoczy, W. Y. Shen, K. Spilsbury, M. Yu, M. Lai, C. J. Barry, and I. J. Constable 37. Identification of Degeneration-Specific Genes in the RCS Rat Retina by Subtractive Hybridization Techniques ........................... Arman Tehrani, Thomas H. Wheeler-Schilling, EbePhart Zrenner, and Elke Guenther 38. Analysis of Field Potentials and Spike Patterns Evoked by Local Electrical Stimulation of the Chicken Retina ..................... S. Weiss, T. Herrmann, A. Stett, E. Zrenner, and H. Haemmerle V Molecular and Cell Biological Studies 39. Antisense Inactivation of rdslperipherin in Xenopus laevis Embryonic Retinal Cultures ............................................. 419 Vikas Kancherla, Wojciech Kedzierski, Gabriel H. Travis, and Monica M. Jablonski
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