Preface INTRODUCTION 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 GENETICS AND PATHOPHYSIOLOGY OF INHERITED RETINAL DEGENERATIONS 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 GENE-BASED THERAPIES 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 Jos?-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 NEUROPROTECTION Pathomechanisms of Inherited Retinal Degeneration and Perspectives for Neuroprotection Arianna Tolone, Merve Sen, Yiyi Chen, Marius Ueffing, Blanca Arango-Gonzalez, and Fran?ois Paquet-Durand Neurotrophic Factors in the Treatment of Inherited Retinal Diseases Laure Blouin, Jos?-Alain Sahel, and Daniel C. Chung Restoration of Rod-Derived Metabolic and Redox Signaling to Prevent Blindness Emmanuelle Cl?rin, Najate A?t-Ali, Jos?-Alain Sahel, and Thierry L?veillard Gene Therapies for Retinitis Pigmentosa that Target Glucose Metabolism Yunlu Xue and Constance L. Cepko VISUAL PROSTHESIS Electronic Retinal Prostheses Daniel Palanker CELL-BASED THERAPIES 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 PLANNING FOR CLINICAL TRIALS AND IDENTIFYING OUTCOME MEASURES IN IRDs 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 Authi?, and Laure Blouin Current Status of Clinical Trials Design and Outcomes in Retinal Gene Therapy Boris Rosin, Eyal Banin, and Jos?-Alain Sahel Index.