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Ординатура / Офтальмология / Английские материалы / Retinal Degenerations biology, diagnostics, and therapeutics_Tombran-Tink, Barnstable_2007

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CONTENTS

Preface ............................................................................................................................

 

v

Contributors..................................................................................................................

 

xv

Companion CD............................................................................................................

 

xix

I. LIVING WITH RETINAL DEGENERATION

 

1

Coping With Retinal Degeneration: A Patient's View .....................

3

 

Gordon Cousins and James Cape

 

II. DEGENERATIVE DISEASES OF THE RETINA

 

2

Epidemiology of Age-Related Macular Degeneration

 

 

Early in the 21st Century ............................................................

23

 

Jie Jin Wang, Paul Mitchell, and Ronald Klein

 

3

Leber Congenital Amaurosis: A Hereditary Childhood Form

 

 

of Blindness and a Model to Elucidate Retinal Physiology

 

 

and Development ........................................................................

61

 

Robert K. Koenekoop

 

4

Macular Degeneration: Aging Changes and Novel Therapies ......

91

 

Peter E. Liggett and Alejandro J. Lavaque

 

5

Stargardt Disease: From Gene Discovery to Therapy .................

105

 

Rando Allikmets

 

6

X-Linked Juvenile Retinoschisis ..................................................

119

 

Bernhard H. F. Weber and Ulrich Kellner

 

7

Retinal Degeneration in Usher Syndrome ....................................

137

 

David S. Williams

 

8

Mouse Models of Retinitis Pigmentosa .......................................

149

 

Bo Chang, Norman L. Hawes, Muriel T. Davisson, and

 

J.R. Heckenlively

III.MECHANISMS UNDERLYING RETINAL DEGENERATIONS

9

The Impact of Diabetes on Neuronal, Glial, and Vascular Cells

 

 

of the Retina: Implications for the Pathogenesis

 

 

of Diabetic Retinopathy..............................................................

165

 

Sylvia B. Smith

 

10

Statins and Age-Related Maculopathy .........................................

185

 

Gerald McGwin, Jr. and Cynthia Owsley

 

11

The Role of Drusen in Macular Degeneration

 

 

and New Methods of Quantification ........................................

197

 

R. Theodore Smith and Umer F. Ahmad

 

xi

xii

 

Contents

12

RPE Lipofuscin: Formation, Properites,

 

 

and Relevance to Retinal Degeneration ..................................

213

 

Janet R. Sparrow

 

13

Genetic Modifiers That Affect Phenotypic Expression

 

 

of Retinal Diseases ...................................................................

237

 

Malia M. Edwards, Dennis M. Maddox, Jungyeon Won,

 

 

Jürgen K. Naggert, and Patsy M. Nishina

 

14

X-Linked Retinal Dystrophies and Microtubular Functions

 

 

Within the Retina ......................................................................

257

 

Alan F. Wright and Xinhua Shu

 

15

Synaptic Remodeling in Retinal Degeneration ............................

269

 

You-Wei Peng and Fulton Wong

 

IV. DEVELOPING THERAPUTIC STRATEGIES

 

 

FOR RETINAL DEGENERATIVE DISEASES

 

16

On the Suppression of Phtoreceptor Cell Death

 

 

in Retinitis Pigmentosa .............................................................

293

 

Fiona Kernan, Alex G. McKee, G. Jane Farrar,

 

 

and Peter Humphries

 

17

Cell-Based Therapies to Restrict the Progress

 

 

of Photoreceptor Degeneration ................................................

319

 

Raymond D. Lund and Shaomei Wang

 

18

Current Status of IPE Transplantation

 

 

and its Potential as a Cell-Based Therapy

 

 

for Age-Related Macular Degeneration

 

 

and Retinal Dystrophies ...........................................................

345

 

Makoto Tamai

 

19

Recent Results in Retinal Transplantation Give Hope

 

 

for Restoring Vision .................................................................

365

 

Robert B. Aramant, Norman D. Radtke,

 

 

and Magdalene J. Seiler

 

20

Stem Cells and Retinal Transplantation .......................................

385

 

Joanne Yau, Henry Klassen, Tasneem Zahir,

 

 

and Michael Young

 

21

Application of Encapsulated Cell Technology

 

 

for Retinal Degenerative Diseases ...........................................

401

 

Weng Tao and Rong Wen

 

22

Effective Treatment for the Canine RPE65 Null Mutation,

 

 

a Hereditary Retinal Dystrophy Comparable

 

 

to Human Leber's Congenital Amaurosis ................................

415

 

Kristina Narfström, Gregory E. Tullis, and Mathias Seeliger

Contents

 

xiii

23

The Use of Neuroprotective Factors

 

 

in Retinal Degenerations ..........................................................

433

 

Joyce Tombran-Tink and Colin J. Barnstable

 

24

Carbonic Anhydrase Inhibitors as a Possible Therapy for RP17,

 

 

an Autosomal Dominant Retinitis Pigmentosa Associated

 

 

With the R14W Mutation, Apoptosis,

 

 

and the Unfolded Protein Response .........................................

455

 

George Rebello, Jacuqie Greenberg, and Raj Ramesar

 

25

Macular Degeneration-An Addendum .........................................

459

 

Joyce Tombran-Tink and Colin J. Barnstable

 

Index ...........................................................................................................................

 

463

CONTRIBUTORS

UMER F. AHMAD, MD • Edward S. Harkness Eye Institute, Columbia University, New York, NY

RANDO ALLIKMETS, PhD • Ophthalmology, Columbia University Eye Institute Research, New York, NY

ROBERT B. ARAMANT, PhD • Department of Anatomical Sciences and Neurobiology, University of Louisville, Ocular Transplantation LLC, Louisville, KY

COLIN J. BARNSTABLE, DPhil • Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT

JAMES K. CAPE • Republic of South Africa

BO CHANG, PhD • The Jackson Laboratory, Bar Harbor, ME GORDON F. COUSINS, MD • Republic of South Africa

MURIEL T. DAVISSON, PhD • The Jackson Laboratory, Bar Harbor, ME MALIA M. EDWARDS, PhD • The Jackson Laboratory, Bar Harbor, ME

G. JANE FARRAR, PhD • Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Dublin, Republic of Ireland

JACQUIE GREENBERG, PhD • Division of Human Genetics, University of Cape Town, Cape Town, South Africa

NORMAN L. HAWES • The Jackson Laboratory, Bar Harbor, ME

J. R. HECKENLIVELY, MD • W. K. Kellogg Eye Center, The University of Michigan, Ann Arbor, MI

PETER HUMPHRIES, PhD • Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Dublin, Republic of Ireland

ULRICH KELLNER, MD • Eye Centre Siegburg, Siegburg, Germany

FIONA KERNAN, PhD • Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Dublin, Republic of Ireland

HENRY KLASSEN, MD, PhD • Children’s Hospital of Orange County, University of California, Irvine, Orange, CA

RONALD KLEIN, MD, MPH • Ophthalmology and Visual Science, University of Wisconsin-Madison, Madison, WI

ROBERT K. KOENEKOOP, MD, PhD • McGill Ocular Genetics Laboratory, Montreal Children’s Hospital, Montreal, Quebec, Canada

ALEJANDRO J. LAVAQUE, MD • New England Retina Research and Education, Spring Glen Medical Center, Hamden, CT

PETER E. LIGGETT, MD • New England Retina Research and Education, Spring Glen Medical Center, Hamden, CT

RAYMOND D. LUND, PhD • Casey Eye Institute, Oregon Health Sciences University, Portland, OR

DENNIS M. MADDOX, PhD • The Jackson Laboratory, Bar Harbor, ME

GERALD MCGWIN, JR., MS, PhD • Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL

xv

xvi

Contributors

ALEX G. MCKEE, PhD • Ocular Genetics Unit, Department of Genetics, Trinity College Dublin, Dublin, Republic of Ireland

PAUL MITCHELL, MD, PhD • Centre for Vision Research, Department of Ophthalmology, Westmead Millennium Institute, University of Sydney, Westmead Hospital, Westmead, N.S.W., Australia

JÜRGEN K. NAGGERT, PhD • The Jackson Laboratory, Bar Harbor, ME

KRISTINA NARFSTRÖM, DVM, PhD • University of Missouri-Columbia, Columbia, MO PATSY M. NISHINA, PhD • The Jackson Laboratory, Bar Harbor, ME

CYNTHIA OWSLEY, MSPH, PhD • Department of Ophthalmology, School of Medicine, University of Alabama at Birmingham, Birmingham, AL

YOU-WEI PENG, PhD • Department of Ophthalmology, Duke University Medical Center, Durham, NC

NORMAN D. RADTKE, MD • Retina Vitreous Resource Center, Norton Audubon Hospital, Department of Ophthalmology, University of Louisville, Louisville, KY

RAJKUMAR RAMESAR, PhD • Division of Human Genetics, University of Cape Town, Cape Town, Republic of South Africa

GEORGE REBELLO, PhD • Division of Human Genetics, University of Cape Town, Cape Town, Republic of South Africa

MATHIAS SEELIGER, MD, PhD • Department of Pathophysiology of Vision and Neuroophthalmology, University Eye Hospital, Tubingen, Germany

MAGDALENE J. SEILER, PhD • Ophthalmology, Keck School of Medicine, University of Southern California, Los Angeles, CA

XINHUA SHU, PhD • MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK

R. THEODORE SMITH, MD, PhD • Edward S. Harkness Eye Institute, Columbia University, New York, NY

SYLVIA B. SMITH, PhD • Medical College of Georgia, Department of Cellular Biology and Anatomy, Augusta, GA

JANET R. SPARROW, PhD • Department of Ophthalmology, Columbia University, New York, NY

MAKOTO TAMAI, MD, PhD • Department of Ophthalmology, Tohoku University, School of Medicine, Sendai, Japan

WENG TAO, MD, PhD • Neurotech USA, Lincoln, RI

JOYCE TOMBRAN-TINK, PhD • Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT

GREGORY E. TULLIS, PhD • Molecular Microbiology and Immunology, Life Sciences Center, University of Missouri-Columbia, Columbia, MO

JIE JIN WANG, MMED, PhD • Centre for Vision Research, Department of Ophthalmology, Westmead Millennium Institute, University of Sydney, Westmead Hospital, Westmead, N.S.W., Australia

SHAOMEI WANG, PhD • Casey Eye Institute, Oregon Health Sciences University, Portland, OR

BERNHARD H. F. WEBER, PhD • University of Regensburg, Institute of Human Genetics, Regensburg, Germany

RONG WEN, MD, PhD • Department of Ophthalmology, University of Pennsylvania, School of Medicine, Philadelphia, PA

Contributors

xvii

DAVID S. WILLIAMS, PhD • Departments of Pharmacology and Neurosciences, University of California, San Diego School of Medicine, La Jolla, CA

JUNGYEON WON, PhD • The Jackson Laboratory, Bar Harbor, ME

FULTON WONG, PhD • Department of Ophthalmology, Duke University Medical Center, Durham, NC

ALAN F. WRIGHT, PhD • MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK

JOANNE YAU • The Schepens Eye Research Institute, Department of Ophthalmology, Harvard Medical School, Boston, MA

MICHAEL J. YOUNG, PhD • The Schepens Eye Research Institute, Department of Ophthalmology, Harvard Medical School, Boston, MA

TASNEEM ZAHIR, PhD • The Schepens Eye Research Institute, Department of Ophthalmology, Harvard Medical School, Boston, MA

Companion CD ROM

All illustrations, both black and white and color, are contained on the accomapnying CD ROM.