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Retinal Disorders: Genetic Approaches to Diagnosis and Treatment, Second Edition

Subject Area(s):  Gene TherapyGeneticsNeurobiology

Edited by Eyan Banin, Hadassah-Hebrew University Medical Center, Jerusalem; Jean Bennett, University of Pennsylvania Perelman School of Medicine; Jacque L. Duncan, University of California, San Francisco; Botond Roska, IOB, Basel, Switzerland; José-Alain Sahel, University of Pittsburgh School of Medicine

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The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments

© 2024 • 566 pages, illustrated (92 color & 14 B&W), index
Hardcover •
ISBN  978-1-621824-62-6

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  •     Description    
  •     Contents    


Retinal disorders affect millions of individuals worldwide and cause deterioration in vision that often results in blindness. Advances in our understanding of inherited retinal disease now offer new hope for those afflicted. The pathogenetic bases of these conditions are increasingly well understood and gene therapy now offers the possibility that they can be cured.

Written and edited by experts in the field, this new collection from Cold Spring Harbor Perspectives in Medicine reviews recent work on retinal disorders, examining their prevalence, underlying molecular mechanisms and clinical characteristics, and strategies for diagnosis and treatment. The contributors look back at the history of gene discovery in retinal disease, calculate worldwide carrier rates, and lessons learned from early work in the field. They then discuss experimental systems such as organoids that allow modeling of the pathophysiology and animal models of the disorders.

The authors comprehensively survey the wide variety of gene therapy approaches being taken, cell-based therapies and retinal prostheses. They also cover clinical trial design and outcome measures. This volume will thus be a useful reference for geneticists and neurobiologists working in the vision field, as well as clinicians working on gene therapy and those who must understand and manage disorders of the retina.


The Extraordinary Phenotypic and Genetic Variability of Retinal and Macular Degenerations: The Relevance to Therapeutic Developments
Isabelle Audo, Marco Nassisi, Christina Zeitz, and José-Alain Sahel
History of Finding Genes and Mutations Causing Inherited Retinal Diseases
Stephen P. Daiger, Lori S. Sullivan, Elizabeth L. Cadena, and Sara J. Bowne
Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations
Mor Hanany, Sapir Shalom, Tamar Ben-Yosef, and Dror Sharon
Rodent Models of Retinal Degeneration: From Purified Cells in Culture to Living Animals
Valérie Fradot, Sébastien Augustin, Valérie Fontaine, Katia Marazova, Xavier Guillonneau, José A. Sahel, and Serge Picaud
Retinal Degeneration Animal Models in Bardet–Biedl Syndrome and Related Ciliopathies
Clarisse Delvallée and Hélène Dollfus
Canine and Feline Models of Inherited Retinal Diseases
Simon M. Petersen-Jones and András M. Komáromy
Pig Models in Retinal Research and Retinal Disease
Maureen A. McCall
Toward Retinal Organoids in High-Throughput
Stefan Erich Spirig and Magdalena Renner
Overview of Retinal Gene Therapy: Current Status and Future Challenges
Jean Bennett
Lessons Learned from the Development of the First FDA-Approved Gene Therapy Drug,
Voretigene Neparvovec-rzyl
Jean Bennett and Albert M. Maguire
Trial by “Firsts”: Clinical Trial Design and Regulatory Considerations in the Development and Approval of the First AAV Gene Therapy Product in the United States
Kathleen Z. Reape and Katherine A. High
Developing New Vectors for Retinal Gene Therapy
Emilia A. Zin, Bilge E. Ozturk, Deniz Dalkara, and Leah C. Byrne
Immunology of Retinitis Pigmentosa and Gene Therapy-Associated Uveitis
Paul Yang, Debarshi Mustafi, and Kathryn L. Pepple
Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy
Imran H. Yusuf and Robert E. MacLaren
RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy
Shaima Awadh Hashem, Michalis Georgiou, Robin R. Ali, and Michel Michaelides
Gene Therapy for Rhodopsin Mutations
Alfred S. Lewin and W. Clay Smith
X-Linked Retinoschisis
Cristy A. Ku, Lisa W. Wei, and Paul A. Sieving
From Bench to Bedside—Delivering Gene Therapy for Leber Hereditary Optic Neuropathy
Benson S. Chen and Patrick Yu-Wai-Man
A Systematic Review of Optogenetic Vision Restoration: History, Challenges, and New Inventions from Bench to Bedside
Antonia Stefanov and John G. Flannery
Optogenetic Vision Restoration
Volker Busskamp, Botond Roska, and José-Alain Sahel
Therapeutic Gene Editing in Inherited Retinal Disorders
Jinjie Ling, Laura A. Jenny, Ashley Zhou, and Stephen H. Tsang
Alternative RNA Splicing in the Retina: Insights and Perspectives
Casey J. Keuthan, Sadik Karma, and Donald J. Zack
Pathomechanisms of Inherited Retinal Degeneration and Perspectives for Neuroprotection
Arianna Tolone, Merve Sen, Yiyi Chen, Marius Ueffing, Blanca Arango-Gonzalez, and François Paquet-Durand
Neurotrophic Factors in the Treatment of Inherited Retinal Diseases
Laure Blouin, José-Alain Sahel, and Daniel C. Chung
Restoration of Rod-Derived Metabolic and Redox Signaling to Prevent Blindness
Emmanuelle Clérin, Najate Aït-Ali, José-Alain Sahel, and Thierry Léveillard
Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism
Yunlu Xue and Constance L. Cepko
Electronic Retinal Prostheses
Daniel Palanker
iPSC-RPE in Retinal Degeneration: Recent Advancements and Future Perspectives
Tadao Maeda and Masayo Takahashi
Considerations for Developing an Autologous Induced Pluripotent Stem Cell (iPSC)-Derived Retinal Pigment Epithelium (RPE) Replacement Therapy
Devika Bose, Davide Ortolan, Mitra Farnoodian, Ruchi Sharma, and Kapil Bharti
Photoreceptor Cell Replacement Using Pluripotent Stem Cells: Current Knowledge and Remaining Questions
Christelle Monville, Olivier Goureau, and Karim Ben M’Barek
Cell-Based Therapies: Strategies for Regeneration
Marina Pavlou and Thomas A. Reh
The Importance of Natural History Studies in Inherited Retinal Diseases
Allison Ayala, Janet Cheetham, Todd Durham, and Maureen Maguire
Adaptive Optics Imaging of Inherited Retinal Disease
Jacque L. Duncan and Joseph Carroll
Beyond the NEI-VFQ: Recent Experience in the Development and Utilization of Patient-Reported Outcomes for Inherited Retinal Diseases
Todd Durham, Judit Banhazi, Francesco Patalano, and Thiran Jayasundera
Mobility Testing and Other Performance-Based Assessments of Functional Vision in Patients with Inherited Retinal Disease
Daniel Chung, Colas Authié, and Laure Blouin
Current Status of Clinical Trials Design and Outcomes in Retinal Gene Therapy
Boris Rosin, Eyal Banin, and José-Alain Sahel