Retinal Degenerative Diseases

by Hollyfield, Joe G.; Anderson, Robert E.; Lavail, Matthew M.; International Symposium on Retinal Degen

• ISBN13: 9780387284644
• ISBN10: 0387284648
• Format: Hardcover
• Copyright: 2006-01-01
• Publisher: Springer Verlag

Summary

Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration.

Table of Contents

PREFACE	vii
ABOUT THE EDITORS	ix
PART I MOLECULAR GENETICS AND CANDIDATE GENES
1. GENETIC FACTORS MODIFYING CLINICAL EXPRESSION OF AUTOSOMAL DOMINANT RP	3	(6)
Stephen P. Daiger, Suma P. Shankar, Alice B. Schindler, Lori S. Sullivan, Sara J. Bowne, Terri M. King, E. Warick Daw, Edwin M. Stone, and John R. Heckenlively
2. DISEASE-ASSOCIATED VARIANTS OF THE ROD-DERIVED CONE VIABILITY FACTOR (RdCVF) IN LEBER CONGENITAL AMAUROSIS.	9	(6)
Rod-derived cone viability variants in LCA
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Helene Dollfus, Jean-Louis Dufier, Josue Feingold, Arnold Munnich, Shomi Bhattacharya, Josseline Kaplan, Jose-Alain Sahel, Jean-Michel Rozet, and Thierry Leveillard
3. LEBER CONGENITAL AMAUROSIS: SURVEY OF THE GENETIC HETEROGENEITY, REFINEMENT OF THE CLINICAL DEFINITION AND PHENOTYPE-GENOTYPE CORRELATIONS AS A STRATEGY FOR MOLECULAR DIAGNOSIS.	15	(6)
Clinical and molecular survey in LCA
Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaële Tanguy, Jean-Michel Rozet, and Josseline Kaplan
4. A FIRST LOCUS FOR ISOLATED AUTOSOMAL RECESSIVE OPTIC ATROPHY (ROA1) MAPS TO CHROMOSOME 8q21–q22	21	(8)
Fabienne Barbet, Sylvie Gerber, Sélim Hakiki, Isabelle Perrault, Sylvain Hanein, Dominique Ducroq, Gaëllic Tanguy, Jean-Louis Dufier, Arnold Munnich, Josseline Kaplan, and Jean-Michel Rozet
5. RCC1-LIKE DOMAIN AND ORF15: ESSENTIALS IN RPGR GENE	29	(6)
Zi-Bing Jin, Mutsuko Hayakawa, Akira Murakami, and Nobuhisa Nao-i
6. CHOROIDAL NEOVASCULARIZATION IN PATIENTS WITH ADULT-ONSET FOVEOMACULAR DYSTROPHY CAUSED BY MUTATIONS IN THE RDS/PERIPHERIN GENE	35	(6)
Darius M. Moshfeghi, Zhenglin Yang, Nathan D. Faulkner, Goutam Karan, Sukanya Thirumalaichary, Erik Pearson, Yu Zhao, Thomas Tsai, and Kang Zhang
7. BIOCHEMICAL CHARACTERISATION OF THE CIQTNF5 GENE ASSOCIATED WITH LATE-ONSET RETINAL DEGENERATION.	41	(8)
A genetic model of age-related macular degeneration
Xinhua Shu, Brian Tulloch, Alan Lennon, Caroline Hayward, Mary O'Connell, Artur V. Cideciyan, Samuel G. Jacobson, and Alan F. Wright
8. BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ASSOCIATED WITH CYP4V2 GENE MUTATIONS	49	(8)
Makoto Nakamura, Jian Lin, Koji Nishiguchi, Mineo Kondo, Jiro Sugita, and Yozo Miyake
PART II DIAGNOSTIC, CLINICAL, CYTOPATHOLOGICAL AND PHYSIOLOGIC ASPECTS OF RETINAL DEGENERATION
9. FUNDUS APPEARANCE OF CHOROIDEREMIA USING OPTICAL COHERENCE TOMOGRAPY	57	(6)
Bradley J. Katz, Zhenglin Yang, Marielle Payn, Yin Lin, Yu Zhao, Erik Pearson, Shan Duan, Shin Kamaya, Goutam Karan, and Kang Zhang
10. A2E, A FLUOROPHORE OF RPE LIPOFUSCIN, CAN DESTABILIE MEMBRANE	63	(6)
Janet R. Sparrow, Bolin Cai, Young Pyo Jang, Jilin Zhou, and Koji Nakanishi
11. AMINO-RETINOID COMPOUNDS IN THE HUMAN RETINAL PIGMENT EPITHELIUM	69	(6)
Heidi R. Vollmer-Snarr, McKenzie R. Pew, Mary L. Alvarez, D. Joshua Cameron, Zhibing Chen, Glenn L. Walker, Josh L. Price, and Jeffrey L. Swallow
12. ANNEXINS IN BRUCH'S MEMBRANE AND DRUSEN	75	(6)
Mary E. Rayborn, Hiro Sakaguchi, Karen G. Shadrach, John W. Crabb, and Joe G. Hollyfield
PART III ANIMAL MODELS OF RETINAL DEGENERATION
13. MOLECULAR MECHANISMS OF PHOTORECEPTOR DEGENERATION IN RP CAUSED BY IMPDH1 MUTATIONS	81	(8)
Aileen Aherne, Avril Kennan, Paul F. Kenna, Niamh McNally, G. Jane Farrar, and Pete Humphries
14. BIOCHEMICAL FUNCTION OF THE LCA LINKED PROTEIN, ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE-1 (AIPL1).	89	(6)
Role of AIPL1 in retina
Matthew L. Schwartz, James B. Hurley, and Visvanathan Ramamurthy
15. CHARACTERIZATION OF MOUSE MUTANTS WITH ABNORMAL RPE CELLS	95	(11)
Chun-hong Xia, Haiquan Liu, Meng Wang, Debra Cheung, Alex Park, Yang Yang, Xin Du, Bo Chang, Bruce Beutler, and Xiaohua Gong
16. ROD AND CONE PIGMENT REGENERATION IN RPE65 MICE	106	(3)
Baerbel Rohrer and Rosalie Crouch
17. INITIAL OBSERVATIONS OF KEY FEATURES OF AGE-RELATED MACULAR DEGENERATION IN APOE TARGETED REPLACEMENT MICE	109	(10)
Goldis Malek, Brian Mace, Peter Saloupis, Donald Schmechel, Dennis Rickman, Patrick Sullivan, and Catherine Bowes Rickman
18. ALTERED RHYTHM OF PHOTORECEPTOR OUTER SEGMENT PHAGOCYTOSIS IN β5 INTEGRIN KNOCKOUT MICE	119	(6)
Emeline F. Nandrot and Silvia C. Finnemann
19. LIGHT/DARK TRANSLOCATION OF ALPHATRANSDUCIN IN MOUSE PHOTORECEPTOR CELLS EXPRESSING G9OD MUTANT OPSIN	125	(8)
Zack A. Nash and Muna I. Naash
20. SLOWED PHOTORESPONSE RECOVERY AND AGE-RELATED DEGENERATION IN CONES LACKING G PROTEIN-COUPLED RECEPTOR KINASE 1	133	(8)
Xuemei Zhu, Bruce Brown, Lawrence Rife, and Cheryl M. Craft
21. TRANSGENIC ANIMAL STUDIES OF HUMAN RETINAL DISEASE CAUSED BY MUTATIONS IN PERIPHERIN/RDS	141	(6)
Xi-Qin Ding and Muna I. Naash
22. TRANSGENIC EXPRESSION OF LEUKEMIA INHIBITORY FACTOR INHIBITS BOTH ROD AND CONE GENE EXPRESSION.	147	(8)
Gp130 regulates cone gene expression
John D. Ash and Dianca R. Graham
23. A ROLE FOR BHLH TRANSCRIPTION FACTORS IN RETINAL DEGENERATION AND DYSFUNCTION	155	(8)
Mark E. Pennesi, Debra E. Bramblett, Jang-Hyeon Cho, Ming-Jer Tsai, and Samuel M. Wu
24. CHARACTERISATION OF A MODEL FOR RETINAL NEOVASCULARISATION. VEGF MODEL CHARACTERISATION	163	(6)
Pauline E. van Eeden, Lisa Tee, Wei-Yong Shen, Sherralee Lukehurst, Chooi-May Lai, P. Elizabeth Rakoczy, Lyn D. Beazley, and Sarah A. Dunlop
25. A TWO-ALTERNATIVE FORCED CHOICE METHOD FOR ASSESSING MOUSE VISION	169	(4)
Yumiko Umino, Bridget Frio, Maryam Abbasi, and Robert Barlow
26. CONDITIONAL GENE KNOCKOUT SYSTEM IN CONE PHOTORECEPTORS	173	(6)
Yun-Zheng Le, John D. Ash, Muayyad R. Al-Ubaidi, Ying Chen, Jian-Xing Ma, and Robert E. Anderson
27. REGULATION OF TIGHT JUNCTION PROTEINS IN CULTURED RETINAL PIGMENT EPITHELIAL CELLS AND IN VEGF OVEREXPRESSING TRANSGENIC MOUSE RETINAS	179	(8)
Reza Ghassemifar, Chooi-May Lai, and P. Elizabeth. Rakoczy
28. PATHOLOGICAL HETEROGENEITY OF VASOPROLIFERATIVE RETINOPATHY IN TRANSGENIC MICE OVEREXPRESSING VASCULAR ENDOTHELIAL GROWTH FACTOR IN PHOTORECEPTORS	187	(8)
Wei-Yong Shen, Yvonne K.Y. Lai, Chooi-May Lai, Nicolette Binz, Lyn D. Beazley, Sarah A. Dunlop, and P. Elizabeth Rakoczy
29. LASER PHOTOCOAGULATION: OCULAR RESEARCH AND THERAPY IN DIABETIC RETINOPATHY	195	(6)
Caroline E. Graham, Nicolette Binz, Wei-Yong Shen, Ian J. Constable, and Elizabeth P. Rakoczy
30. APPLYING TRANSGENIC ZEBRAFISH TECHNOLOGY TO STUDY THE RETINA	201	(8)
Ross F. Collery, Maria L. Cederlund, Vincent A. Smyth, and Breandán N. Kennedy
31. BMI1 LOSS DELAYS PHOTORECEPTOR DEGENERATION IN RD1 MICE.	209	(8)
Bmi1 loss and neuroprotection in Rdl mice
Dusan Zencak, Sylvain V. Crippa, Meriem Tekaya, Ellen Tanger, Daniel E Schorderet, Francis L. Munier, Maarten van Lohuizen, and Yvan Arsenijevic
32. TRANSCRIPTIONAL AND POST-TRANSCRIPTIONAL REGULATION OF THE ROD cGMP-PHOSPHODIESTERASE β-SUBUNIT GENE.	217	(16)
Recent advances and current concepts
Leonid E. Lerner, Natik Piri, and Debora B. Farber
PART IV GENE THERAPY AND NEUROPROTECTION
33. DOWN-REGULATION OF RHODOPSIN GENE EXPRESSION BY AAV-VECTORED SHORT INTERFERING RNA	233	(6)
Jacqueline T. Teusner, Alfred S. Lewin, and William W. Hauswirth
34. ASSESSING THE EFFICACY OF GENE THERAPY IN Rpe65-1- MICE USING PHOTOENTRAINMENT OF CIRCADIAN RHYTHM	239	(8)
Chris W. Stoddart, Meaghan J.T. Yu, Matthew T. Martin-Iverson, Dru M. Daniels, Chooi-May Lai, Nigel L. Barnett, T. Michael Redmond, Kristina Narfström, and P. Elizabeth Rakoczy
35. LENTIVIRAL VECTORS CONTAINING A RETINAL PIGMENT EPITHELIUM SPECIFIC PROMOTER FOR LEBER CONGENITAL AMAUROSIS GENE THERAPY.	247	(8)
Lentiviral gene therapy for LCA
Alexis-Pierre Bemelmans, Corinne Kostic, Dana Hornfeld, Muriel Jaquet, Sylvain V. Crippa, William W. Hauswirth, Janis Lem, Zhongyan Wang, Daniel F. Schorderet, Francis L. Munier, Andreas Wenzel, and Yvan Arsenijevic
36. GENE DELIVERY TO THE RETINA USING LENTIVIRAL VECTORS	255	(12)
Kenneth P. Greenberg, Edwin S. Lee, David V. Schaffer, and John G. Flannery
37. POTENTIAL USE OF CELLULAR PROMOTER(S) TO TARGET RPE IN AAV-MEDIATED DELIVERY.
Cellular promoters and RPE-targeting	267	(8)
Erika N. Sutanto, Dan Zhang, Yvonne K.Y. Lai, Wei-Yong Shen, and P. Elizabeth Rakoczy
38. CYTOKINE-INDUCE RETINAL DEGENERATION: ROLE OF SUPPRESSORS OF CYTOKINE SIGNALING (SOCS) PROTEINS IN PROTECTION OF THE NEURORETINA	275	(8)
Charles E. Egwuagu, Cheng-Hong Yu, Rashid M. Mandi, Maire Mameza, Chikezie Eseonu, Hiroshi Takase, and Samuel Ebong
39. DISEASE MECHANISMS AND GENE THERAPY IN A MOUSE MODEL FOR X-LINKED RETINOSCHISIS	283	(8)
Laurie L. Molday, Seok-Hong Min, Mathias W. Seeliger, Winco W.H. Wu, Astra Dinculescu, Adrian M. Timmers, Andreas Janssen, Felix Tonagel, Kristiane Hudl, Bernhard H.F. Weber, William W. Hauswirth, and Robert S. Molday
40. MOLECULAR MECHANISMS OF NEUROPROTECTION IN THE EYE	291	(6)
Colin J. Barnstable and Joyce Tombran-Tink
41. RETINAL DAMAGE CAUSED BY PHOTODYNAMIC THERAPY CAN BE REDUCED USING BDNF	297	(6)
Jacque L. Duncan, Daniel M. Paskowitz, George C. Nune, Douglas Yasumura, Haidong Yang, Michael T. Matthes, Marco A. Zarbin, and Matthew M. LaVail
42. CONTROLLING VASCULAR ENDOTHELIAL GROWTH FACTOR: THERAPIES FOR OCULAR DISEASES ASSOCIATED WITH NEOVASCULARIZATION	303	(6)
Robert J. Marano and P. Elizabeth Rakoczy
43. INTRAVITREAL INJECTION OF TRIAMCINOLONE ACETONIDE FOR MACULAR EDEMA DUE TO RETINITIS PIGMENTOSA AND OTHER RETINAL DISEASES	309	(6)
Jianbin Hu, Paul S. Bernstein, Michael P. Teske, Marielle Payne, Zhenglin Yang Chumei Li, David Adams, Jennifer H. Baird, and Kang Zhang
44. CONE SURVIVAL: IDENTIFICATION OF RdCVF	315	(6)
Olivier Lorentz, José Sahel, Saddek Mohand-Said, and Thierry Leveillard
45. NEUROPROTECTION OF PHOTORECEPTORS IN THE RCS RAT AFTER IMPLANTATION OF A SUBRETINAL IMPLANT IN THE SUPERIOR OR INFERIOR RETINA	321	(6)
Machelle T. Pardue, Michael J. Phillips, Brett Hanzlicek, Hang Yin, Alan Y. Chow, and Sherry L. Ball
46. GLUTAMATE TRANSPORT MODULATION: A POSSIBLE ROLE IN RETINAL NEUROPROTECTION	327	(6)
Nigel L. Barnett, Kei Takamoto, and Natalie D. Bull
47. ACTIVATION OF CELL SURVIVAL SIGNALS IN THE GOLDFISH RETINAL GANGLION CELLS AFTER OPTIC NERVE INJURY	333	(8)
Yoshiki Koriyama, Keiko Homma, and Satoru Kato
PART V USHER SYNDROME
48. ROLES AND INTERACTIONS OF USHER 1 PROTEINS IN THE OUTER RETINA	341	(8)
Concepción Lillo, Junko Kitamoto, and David S. Williams
49. MOLECULAR ANALYSIS OF THE SUPRAMOLECULAR USHER PROTEIN COMPLEX IN THE RETINA.	349	(8)
Harmonin as the key protein of the Usher Syndrome
Jane Reiners and Uwe Wolfrum
PART VI STEM CELLS, TRANSPLANTATION AND RETINAL REPAIR
50. LIMITED NEURAL DIFFERENTIATION OF RETINAL PIGMENT EPITHELIUM	357	(6)
Ryosuke Wakusawa, Toshiaki Abe, Yoko Saigo, and Makoto Tamai
51. RETINAL PIGMENT EPITHELIAL CELLS FROM THERMALLY RESPONSIVE POLYMER-GRAFTED SURFACE REDUCE APOPTOSIS	363	(4)
Toshiaki Abe, Masayoshi Hojo, Yoko Saigo, Masahiko Yamato, Teruo Okano, Ryosuke Wakusawa, and Makoto Tamai
52. RETINAL TRANSPLANTATION.	367	(10)
A treatment strategy for retinal degenerative disease
Biju B. Thomas, Robert B. Aramant, SriniVas R. Sadda, and Magdalene J. Seiler
53. MICROARRAY ANALYSIS REVELAS RETINAL STEM CELL CHARACTERISTICS OF THE ADULT HUMAN EYE.	377	(4)
For contribution volumes
B Brigitte Angénieux, Lydia Michaut, Daniel E Schorderet, Francis L. Munier, Walter Gehring, and Yvan Arsenijevic
54. USING STEM CELLS TO REPAIR THE DEGENERATE RETINA.	381	(8)
Stem cells in the context of retinal degenerations
Christine M. Hall, Anthony Kicic, Chooi-May Lai, and P. Elizabeth Rakoczy
55. OPTIC NERVE REGENERATION: MOLECULAR PRE-REQUISITES AND THE ROLE OF TRAINING.	389	(8)
Restoring vision after optic nerve injury
Lyn D. Beazley, Jennifer Rodger, Carolyn E. King, Carole A. Bartlett, Andrew L. Taylor, and Sarah A. Dunlop
56. RETINAL GANGLION CELL REMODELLING IN EXPERIMENTAL GLAUCOMA	397	(8)
James E. Morgan, Amit V. Datta, Jonathan T. Erichsen, Julie Albon, and Michael E. Boulton
PART VII INDUCED RETINAL DEGENERATIONS
57. NEURAL PLASTICITY REVEALED BY LIGHT-INDUCED PHOTORECEPTOR LESIONS	405	(6)
Bryan W. Jones, Robert E. Marc, Carl B. Watt, Dana K. Vaughan, and Daniel T. Organisciak
58. FACTORS UNDERLYING CIRCADIAN DEPENDENT SUSCEPTIBILITY TO LIGHT INDUCED RETINAL DAMAGE	411	(6)
Ruby Grewal, Daniel T. Organisciak, and Paul Wong
59. SPACE FLIGHT ENVIRONMENT INDUCES DEGENERATION IN THE RETINA OF RAT NEONATES	417	(8)
Joyce Tombran-Tink and Colin J. Barnstable
60. TOXICITY OF HYPEROXIA TO THE RETINA: EVIDENCE FROM THE MOUSE	425	(14)
Scott Geller, Renata Krowka, Krisztina Valter, and Jonathan Stone
61. TREATMENT WITH CARBONIC ANHYDRASE INHIBITORS DEPRESSES ELECTRORETINOGRAM RESPONSIVENESS IN MICE	439	(8)
Yves Sauvé, Goutam Karan, Zhenglin Yang, Chunmei Li, Jianbin Hu, and Kang Zhang
62. INJURY-INDUCED RETINAL GANGLION CELL LOSS IN THE NEONATAL RAT RETINA	447	(8)
Kirsty L. Spalding, Qi Cui, Arunasalam M. Dharmarajan, and Alan R. Harvey
PART VIII BASIC SCIENCE UNDERLYING RETINAL DEGENERATION
63. ARRESTIN TRANSLOCATION IN ROD PHOTORECEPTORS	455	(10)
W. Clay Smith, James J. Peterson, Wilda Orisme, and Astra Dinculescu
64. BINDING OF N-RETINYLIDENE-PO TO ABCA4 AND A MODEL FOR ITS TRANSPORT ACROSS MEMBRANES	465	(6)
Robert S. Molday, Seelochan Beharry, Jinhi Ahn, and Ming Zhong
65. THE CHAPERONE FUNCTION OF THE LCA PROTEIN AIPL1.	471	(6)
AIPL1 chaperone function
Jacqueline van der Spuy and Michael E. Cheetham
66. CRALBP LIGAND AND PROTEIN INTERACTIONS	477	(8)
Zhiping Wu, Sanjoy K. Bhattacharya, Zhaoyan Jin, Vera L. Bonilha, Tianyun Liu, Maria Nawrot, David C. Teller, John C. Saari, and John W. Crabb
67. FUNCITONAL STUDY OF PHOTORECEPTOR PDEδ	485	(6)
Houbin Zhang, Jeanne M. Frederick, and Wolfgang Baehr
68. LOCALIZATION OF THE INSULIN RECEPTOR AND PHOSPHOINOSITIDE 3-KINASE IN DETERGENT-RESISTANT MEMBRANE RAFTS OF ROD PHOTORECEPTOR OUTER SEGMENTS	491	(8)
Raju V.S. Rajala, Michael H. Elliott, Mark E. McClellan, and Robert E. Anderson
69. MERTK ACTIVATION DURING RPE PHAGOCYTOSIS IN VIVO REQUIRES ανβ5 INTEGRIN	499	(6)
Silvia C. Finnemann and Emeline F. Nandrot
70. PHOTORECEPTOR RETINOL DEHYDROGENASES.	505	(8)
An attempt to characterize the function of Rdhl 1
Anne Kasus-Jacobi, David G. Birch, and Robert E. Anderson
71. PIGMENT EPITHELIUM-DERIVED GROWTH FACTOR INHIBITS FETAL BOVINE SERUM STIMULATED VASCULAR ENDOTHELIAL GROWTH FACTOR SYNTHESIS IN CULTURED HUMAN RETINAL PIGMENT EPITHELIAL CELLS	513	(6)
Piyush C. Kothary, Rhonda Lahiri, Lynn Kee, Nitin Sharma, Eugene Chun, Angela Kuznia, and Monte A. Del Monte
72. THE RETINAL PIGMENT EPITHELIUM APICAL MICROVILLI AND RETINAL FUNCTION	519	(6)
Vera L. Bonilha, Mary E. Rayborn, Sanjoy K. Bhattacharya, Xiarong Gu, John S. Crabb, John W. Crabb, and Joe G. Hollyfield
73. UPREGULATION OF TRANSGLUTAMINASE IN THE GOLDFISH RETINA DURING OPTIC NERVE REGENERATION	525	(6)
Kayo Sugitani, Toru Matsukawa, Ari Maeda, and Satoru Kato
74. SURVIVAL SIGNALING IN RETINAL PIGMENT EPITHELIAL CELLS IN RESPONSE TO OXIDATIVE STRESS.	531	(10)
Significance in retinal degenerations
Nicolas Bazan
INDEX	541