Retinal Degenerative Diseases, Softcover reprint of the original 1st ed. 2018
Mechanisms and Experimental Therapy
Advances in Experimental Medicine and Biology Series, Vol. 1074

The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the ?best? and ?most important? meetings in the field.

The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.

While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2014. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials.

The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS.

Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2018 meeting and included in the proposed volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations will be reflected in the volume.

Part I Age-Related Macular Degeneration (AMD).- Oxidative Stress Regulation and DJ-1 function in the Retinal Pigment Epithelium: implications for AMD.- Mitochondria: Potential Targets for Protection in Age-Related Macular Degeneration.- Toll-Like Receptors and Age-Related Macular Degeneration.- Alterations in Extracellular Matrix/Bruch’s Membrane can cause the Activation of the Alternative Complement Pathway via Tick-over.- MicroRNA as Therapeutics for Age Related Macular Degeneration.- Anaphylatoxin Signaling in Retinal Pigment and Choroidal Endothelial Cells: Characteristics and Relevance to Age-Related Macular Degeneration.- Estimations of Retinal Blue-Light Irradiance Values and Melatonin Suppression Indices Through Clear and Yellow-Tinted Intraocular Lenses.- Co-expression of wild-type and mutant S163R C1QTNF5 in retinal pigment epithelium.- Part II   Gene Therapies.- Mini-Review: Cell Type Specific Optogenetic Vision Restoration Approaches.- Mutation-Independent Gene Therapies for Rod-Cone Dystrophies.- Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.- Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses.- Success of Gene Therapy in Late-Stage Treatment.- Optimizing Non-Viral Gene Therapy Vectors for Delivery to Photoreceptors and Retinal Pigment Epithelial Cells.- Nanoparticles as Delivery Vehicles for the Treatment of Retinal Degenerative Diseases.- Over Expression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice.- Part III   In-Vivo Diagnostics for Structure and Function.- In Vivo Functional Imaging of Retinal Neurons Using Red and Green Fluorescent Calcium Indicators.- Optimizing ERG Measures of Scotopic and Photopic Critical Flicker Frequency.- Repeatability and Reproducibility of In Vivo Cone Density Measurements in the Adult Zebrafish Retina.- Normative Retinal Thicknesses inCommon Animal Models of Eye Disease Using Spectral Domain Optical Coherence Tomography.- A Novel Approach for Integrating AF-SLO and SDOCT Imaging Data Demonstrates the Ability to Identify Early Retinal Abnormalities in Mutant Mice and Evaluate the Effects of Genetic and Pharmacological Manipulation.- Part IV   Inflammation and Angiogenesis.- The Role of Hypoxia, Hypoxia-Inducible Factor (HIF) and VEGF In Retinal Angiomatous Proliferation.- Neuroinflammation in Retinitis Pigmentosa, Diabetic Retinopathy and Age-related Macular Degeneration: A Minireview.- Autoimmune Retinopathy: An Immunologic Cellular-Driven Disorder.- Inflammation-Induced Photoreceptor Cell Death.- Sall1 Regulates Microglial Morphology Cell Autonomously in the Developing Retina.- Part V   Inherited Retinal Degenerations.- Whole-Exome Sequencing Identifies Novel Variants that Co-Segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.- Identification of Novel Deletions as the Underlying Causeof Retinal Degeneration in Two Pedigrees.- Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (Adrp).- Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases.- Mapping of Canine Models of Inherited Retinal Diseases.- A Mini-Review: Leber Congenital Amaurosis; Identification of Disease-Causing Variants, and Personalised Therapies.- Part VI   Mechanisms of Degeneration.- Role of Fibulins 2 & 5 in Retinal Development and Maintenance.- Identifying Key Networks Linked to Light-Independent Photoreceptor Degeneration in Visual Arrestin 1 Knockout Mice.- How Excessive Cgmp Impacts Metabolic Proteins in Retinas at the Onset of Degeneration.- Protein Carbonylation–Dependent Photoreceptor Cell Death Induced by N-Methyl-N-Nitrosourea in Mice.- Müller Glia Reactivity and Development of Gliosis in Response to Pathological Conditions.- Underdeveloped RPE Apical Domain Underlies Lesion Formationin Canine Bestrophinopathies.- Binary Function of ARL3-GTP Revealed by Gene Knockouts.- Do cGMP Levels Drive the Speed of Photoreceptor Degeneration?.- Early endosome morphology in health and disease.- The Retinal Circadian Clock and Photoreceptors Viability.- The Role of C-Jun N-Terminal Kinase (JNK) in Retinal Degeneration and Vision Loss.- The Evaluation of BMI1 Posttranslational Modifications During Retinal Degeneration to Understand BMI1 Action on Photoreceptor Death Execution.- PKG-Dependent Cell Death in 661W Cone Photoreceptor-Like Cell Cultures.- Impact of MCT1 Haploinsufficiency on the Mouse Retina.- The Leber Congenital Amaurosis-Linked Protein AIPL1 and its Critical Role in Photoreceptors.- Alternative Splicing for Activation of Coagulation Factor XIII-A in the Fish Retina After Optic Nerve Injury.- Bisretinoid Photodegradation is Likely Not a Good Thing.- Further Characterization of the Predominant Inner Retinal Degeneration of Aging Cln3^Δex7/8 Knock-in Mice.-  Differential Exon Expression in a Large Family of Retinal Genes is Regulated By a Single Trans Locus.- Molecular Chaperone Erp29: A Potential Target for Cellular Protection in Retinal and Neurodegenerative Diseases.- The Role of Microbiota in Retinal Disease.- Part VII   Neuroprotection.- Current Pharmacological Concepts in the Treatment of the Retinitis Pigmentosa.- Valproic Acid Inhibits Human Retinal Pigment Epithelial (hRPE) Cell Proliferation via a P38 MAPK Signaling Mechanism.- Pigment Epithelium-derived Factor Protects Retinal Pigment Epithelial Cells against Cytotoxicity “In Vitro”.- Brain Derived Neurotrophic Factor as a Treatment Option for Retinal Degeneration.- VEGF as a Trophic Factor for Müller Glia in Hypoxic Retinal Diseases.- Müller Cell Biological Processes Associated with Leukemia Inhibitory Factor Expression.- Retbindin is Capable of Protecting Photoreceptors from Flavin-sensitized Light-mediated Cell Death In Vitro.- Constitutive Activation Mutant mTOR Promote Cone Survival in Retinitis Pigmentosa Mice.- Maintaining Cone Function in Rod-Cone Dystrophies.- Primary Rod and Cone Degeneration is Prevented by HDAC Inhibition.- Part IIX   Retinal Cell Biology.- More than meets the eye: current understanding of RPGR function.- Polarized Exosome Release from the Retinal Pigmented Epithelium.- The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina.- TRPV4 Does Not Regulate the Distal Retinal Light Response.- Role of Sirtuins in Retinal Function Under Basal Conditions.- The Retinol Binding Protein Receptor 2 (Rbpr2) is Required for Photoreceptor Survival and Visual Function in the Zebrafish.- Opposite Roles of MerTK Ligands Gas6 and Protein S During Retinal Phagocytosis.- Redundant and Non-Redundant Functions of Akt Isoforms in the Retina.- Photoreceptor Outer Segment Isolation from a Single Canine Retina for RPE Phagocytosis Assay.- Preservation of Photoreceptor Nanostructure for Electron Tomography Using Transcardiac Perfusion Followed by High Pressure Freezing and Freeze-Substitution.- Microtubule-Associated Protein 1 Light Chain 3 (LC3) Isoforms in RPE and Retina.- Part IX   Stem Cells.- The Ipsc-derived Retinal Tissue as a Tool to Study Growth Factor Production in the Eye.- Stem Cell-Based RPE Therapy for Retinal Diseases: Engineering 3D Tissues Amenable for Regenerative Medicine.- Validation of IPS Cell-derived RPE Tissue in Animal Models.- Cell Transplantation for Retinal Degeneration: Transition from Rodent to Non-Human Primate ModelsCell Transplantation for Retinal Degeneration: Transition from Rodent to Non-Human Primate Models.

Presents several new aspects of gene therapy and revolutionary new imaging and functional testing Explores the role of inflammation and immunity, as well as other basic mechanisms in age-related macular degeneration Contains the proceedings of the XVII International Symposium on Retinal Degeneration (RD2016)