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Retinal Disorders: Genetic Approaches to Diagnosis and Treatment

Book Series:  A Cold Spring Harbor Perspectives in Medicine Collection
Subject Area(s):  Gene TherapyGeneticsNeurobiology

Edited by Richard Masland, Harvard Medical School, Massachusetts Eye and Ear Infirmary; Joan Miller, Massachusetts Eye and Ear Infirmary; Eric Pierce, Massachusetts Eye and Ear Infirmary

Download Free Excerpts from Retinal Disorders: Genetic Approaches to Diagnosis and Treatment:

Preface and Contents
Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

© 2015 • 446 pages, illustrated (57 color, 11 B&W), index
Hardcover •
ISBN  978-1-621820-17-8

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  •     Description    
  •     Contents    


The retina is a layer of neural tissue that lines the inner eye and captures visual stimuli. Hereditary, physiologic, or environmental factors can lead to various retinal disorders and may cause blindness. The recent application of molecular genetic techniques to retinal disorders has led to remarkable advances in the understanding, diagnosis, and treatment of these conditions.

Written and edited by experts in the field, this collection from Cold Spring Harbor Perspectives in Medicine reviews recent work on retinal diseases, describing their genetic and molecular basis, their clinical characteristics, and strategies to diagnose and treat them. The contributors emphasize how genetic approaches are currently driving progress in the field. They discuss the genetic mutations and modifiers that underlie disease development and progression, the gene expression patterns that characterize them, and how this information is being used for medical applications. In particular, the authors describe impressive advances in gene therapy treatments for retinal diseases, some of which have led to clinical success.

Common retinal diseases such as age-related macular degeneration, glaucoma, and retinitis pigmentosa are covered, as are rare disorders such as Leber congenital amaurosis and Usher syndrome. This volume will be a useful reference for geneticists, neurobiologists, and ophthalmologists who must understand and manage disorders of the retina, as well as anyone working to develop gene therapies for other medical conditions.


Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations
José-Alain Sahel, Katia Marazova, and Isabelle Audo
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
Stephen P. Daiger, Sara J. Bowne, and Lori S. Sullivan
Genomic Approaches for the Discovery of Genes Mutated in Inherited Retinal Degeneration
Anna M. Siemiatkowska, Rob W.J. Collin, Anneke I. den Hollander, and Frans P.M. Cremers
Genetic Modifiers and Oligogenic Inheritance
Maria Kousi and Nicholas Katsanis
RNA-Seq: Improving Our Understanding of Retinal Biology and Disease
Michael H. Farkas, Elizabeth D. Au, Maria E. Sousa, and Eric A. Pierce
Stem Cells as Tools for Studying the Genetics of Inherited Retinal Degenerations
Luke A. Wiley, Erin R. Burnight, Robert F. Mullins, Edwin M. Stone, and Budd A. Tucker
A Review of Secondary Photoreceptor Degenerations in Systemic Disease
Naveen Mysore, Jamie Koenekoop, Shen Li, Huanan Ren, Vafa Keser, Irma Lopez-Solache, and Robert K. Koenekoop
Clinical Characteristics and Current Treatment of Age-Related Macular Degeneration
Yoshihiro Yonekawa and Ivana K. Kim
Genome-Wide Association Studies: Getting to Pathogenesis, the Role of Inflammation/Complement in Age-Related Macular Degeneration
Jessica N. Cooke Bailey, Margaret A. Pericak-Vance, and Jonathan L. Haines
The Proteomics of Drusen
John W. Crabb
Highly Penetrant Alleles in Age-Related Macular Degeneration
Anneke I. den Hollander and Eiko K. de Jong
Differential Gene Expression in Age-Related Macular Degeneration
Denise J. Morgan and Margaret M. DeAngelis
Clinical Applications of Age-Related Macular Degeneration Genetics
John Paul SanGiovanni and Emily Y. Chew
Clinical Characteristics and Current Treatment of Glaucoma
Laura P. Cohen and Louis R. Pasquale
Common and Rare Genetic Risk Factors for Glaucoma
Ryan Wang and Janey L. Wiggs
Differential Gene Expression in Glaucoma
Tatjana C. Jakobs
The Complex Role of Neuroinflammation in Glaucoma
Ileana Soto and Gareth R. Howell
Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications
Keri F. Allen, Eric D. Gaier, and Janey L. Wiggs
Gene Therapy Trials
The Status of RPE65 Gene Therapy Trials: Safety and Efficacy
Eric A. Pierce and Jean Bennett
Gene Therapy for Choroideremia Using an Adeno-Associated Viral (AAV) Vector
Alun R. Barnard, Markus Groppe, and Robert E. MacLaren
Gene Therapy of ABCA4-Associated Diseases
Alberto Auricchio, Ivana Trapani, and Rando Allikmets
Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations
in MY07A
Vanda S. Lopes and David S. Williams
Gene Therapies for Neovascular Age-Related Macular Degeneration
Peter Pechan, Samuel Wadsworth, and Abraham Scaria
Gene Therapies in Preclinical Studies
Leber Congenital Amaurosis Caused by Mutations in GUCY2D
Shannon E. Boye
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis
Ronald A. Bush, Lisa L. Wei, and Paul A. Sieving
Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects
Shannon M. Conley and Muna I. Naash
Leber Congenital Amaurosis Caused by Mutations in RPGRIP1
Tiansen Li
Gene Augmentation for X-Linked Retinitis Pigmentosa Caused by Mutations in RPGR
William A. Beltran, Artur V Cideciyan, Alfred S. Lewin, William W. Hauswirth, Samuel G. Jacobson, and
Gustavo D. Aguirre
Gene Augmentation for adRP Mutations in RHO
Alfred S. Lewin, Brian Rossmiller, and Haoyu Mao
Curing Color Blindness—Mice and Nonhuman Primates
Maureen Neitz and Jay Neitz
Gene Therapy Using Stem Cells
Erin R. Burnight, Luke A. Wiley, Robert F. Mullins, Edwin M. Stone, and Budd A. Tucker
What Is Next For Retinal Gene Therapy?
Luk H. Vandenberghe