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Retinal Degenerative Diseases

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Cover of 'Retinal Degenerative Diseases'

Table of Contents

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    Book Overview
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    Chapter 1 Oxidative Stress Regulation and DJ-1 Function in the Retinal Pigment Epithelium: Implications for AMD
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    Chapter 2 Mitochondria: Potential Targets for Protection in Age-Related Macular Degeneration
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    Chapter 3 Toll-Like Receptors and Age-Related Macular Degeneration
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    Chapter 4 Alterations in Extracellular Matrix/Bruch’s Membrane Can Cause the Activation of the Alternative Complement Pathway via Tick-Over
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    Chapter 5 MicroRNA as Therapeutics for Age-Related Macular Degeneration
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    Chapter 6 Anaphylatoxin Signaling in Retinal Pigment and Choroidal Endothelial Cells: Characteristics and Relevance to Age-Related Macular Degeneration
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    Chapter 7 Estimations of Retinal Blue-Light Irradiance Values and Melatonin Suppression Indices Through Clear and Yellow-Tinted Intraocular Lenses
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    Chapter 8 Co-Expression of Wild-Type and Mutant S163R C1QTNF5 in Retinal Pigment Epithelium
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    Chapter 9 Mini-Review: Cell Type-Specific Optogenetic Vision Restoration Approaches
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    Chapter 10 Mutation-Independent Gene Therapies for Rod-Cone Dystrophies
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    Chapter 11 Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia
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    Chapter 12 Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses
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    Chapter 13 Success of Gene Therapy in Late-Stage Treatment
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    Chapter 14 Optimizing Non-viral Gene Therapy Vectors for Delivery to Photoreceptors and Retinal Pigment Epithelial Cells
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    Chapter 15 Nanoparticles as Delivery Vehicles for the Treatment of Retinal Degenerative Diseases
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    Chapter 16 Overexpression of Type 3 Iodothyronine Deiodinase Reduces Cone Death in the Leber Congenital Amaurosis Model Mice
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    Chapter 17 In Vivo Functional Imaging of Retinal Neurons Using Red and Green Fluorescent Calcium Indicators
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    Chapter 18 Optimizing ERG Measures of Scotopic and Photopic Critical Flicker Frequency
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    Chapter 19 Repeatability and Reproducibility of In Vivo Cone Density Measurements in the Adult Zebrafish Retina
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    Chapter 20 Normative Retinal Thicknesses in Common Animal Models of Eye Disease Using Spectral Domain Optical Coherence Tomography
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    Chapter 21 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
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    Chapter 22 The Role of Hypoxia, Hypoxia-Inducible Factor (HIF), and VEGF in Retinal Angiomatous Proliferation
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    Chapter 23 Neuroinflammation in Retinitis Pigmentosa, Diabetic Retinopathy, and Age-Related Macular Degeneration: A Minireview
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    Chapter 24 Autoimmune Retinopathy: An Immunologic Cellular-Driven Disorder
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    Chapter 25 Inflammation-Induced Photoreceptor Cell Death
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    Chapter 26 Sall1 Regulates Microglial Morphology Cell Autonomously in the Developing Retina
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    Chapter 27 Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree
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    Chapter 28 Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees
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    Chapter 29 Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP)
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    Chapter 30 Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases
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    Chapter 31 Mapping of Canine Models of Inherited Retinal Diseases
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    Chapter 32 A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies
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    Chapter 33 Role of Fibulins 2 and 5 in Retinal Development and Maintenance
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    Chapter 34 Identifying Key Networks Linked to Light-Independent Photoreceptor Degeneration in Visual Arrestin 1 Knockout Mice
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    Chapter 35 How Excessive cGMP Impacts Metabolic Proteins in Retinas at the Onset of Degeneration
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    Chapter 36 Protein Carbonylation-Dependent Photoreceptor Cell Death Induced by N-Methyl-N-nitrosourea in Mice
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    Chapter 37 Müller Glia Reactivity and Development of Gliosis in Response to Pathological Conditions
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    Chapter 38 Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies
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    Chapter 39 Binary Function of ARL3-GTP Revealed by Gene Knockouts
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    Chapter 40 Do cGMP Levels Drive the Speed of Photoreceptor Degeneration?
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    Chapter 41 Early Endosome Morphology in Health and Disease
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    Chapter 42 The Retinal Circadian Clock and Photoreceptor Viability
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    Chapter 43 The Role of c-Jun N-Terminal Kinase (JNK) in Retinal Degeneration and Vision Loss
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    Chapter 44 The Evaluation of BMI1 Posttranslational Modifications During Retinal Degeneration to Understand BMI1 Action on Photoreceptor Death Execution
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    Chapter 45 Primary Rod and Cone Degeneration Is Prevented by HDAC Inhibition
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    Chapter 46 Impact of MCT1 Haploinsufficiency on the Mouse Retina
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    Chapter 47 The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors
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    Chapter 48 Alternative Splicing for Activation of Coagulation Factor XIII-A in the Fish Retina After Optic Nerve Injury
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    Chapter 49 Bisretinoid Photodegradation Is Likely Not a Good Thing
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    Chapter 50 Further Characterization of the Predominant Inner Retinal Degeneration of Aging Cln3 Δex7/8 Knock-In Mice
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    Chapter 51 Differential Exon Expression in a Large Family of Retinal Genes Is Regulated by a Single Trans Locus
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    Chapter 52 Molecular Chaperone ERp29: A Potential Target for Cellular Protection in Retinal and Neurodegenerative Diseases
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    Chapter 53 The Role of Microbiota in Retinal Disease
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    Chapter 54 Current Pharmacological Concepts in the Treatment of the Retinitis Pigmentosa
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    Chapter 55 Valproic Acid Inhibits Human Retinal Pigment Epithelial (hRPE) Cell Proliferation Via a P38 MAPK Signaling Mechanism
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    Chapter 56 Pigment Epithelium-derived Factor Protects Retinal Pigment Epithelial Cells Against Cytotoxicity “In Vitro”
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    Chapter 57 Brain-Derived Neurotrophic Factor as a Treatment Option for Retinal Degeneration
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    Chapter 58 VEGF as a Trophic Factor for Müller Glia in Hypoxic Retinal Diseases
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    Chapter 59 Müller Cell Biological Processes Associated with Leukemia Inhibitory Factor Expression
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    Chapter 60 Retbindin Is Capable of Protecting Photoreceptors from Flavin-Sensitized Light-Mediated Cell Death In Vitro
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    Chapter 61 Constitutive Activation Mutant mTOR Promote Cone Survival in Retinitis Pigmentosa Mice
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    Chapter 62 Maintaining Cone Function in Rod-Cone Dystrophies
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    Chapter 63 PKG-Dependent Cell Death in 661W Cone Photoreceptor-like Cell Cultures (Experimental Study)
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    Chapter 64 More Than Meets the Eye: Current Understanding of RPGR Function
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    Chapter 65 Polarized Exosome Release from the Retinal Pigmented Epithelium
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    Chapter 66 The Impact of Adherens and Tight Junctions on Physiological Function and Pathological Changes in the Retina
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    Chapter 67 TRPV4 Does Not Regulate the Distal Retinal Light Response
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    Chapter 68 Role of Sirtuins in Retinal Function Under Basal Conditions
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    Chapter 69 The Retinol-Binding Protein Receptor 2 (Rbpr2) Is Required for Photoreceptor Survival and Visual Function in the Zebrafish
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    Chapter 70 Opposite Roles of MerTK Ligands Gas6 and Protein S During Retinal Phagocytosis
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    Chapter 71 Redundant and Nonredundant Functions of Akt Isoforms in the Retina
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    Chapter 72 Photoreceptor Outer Segment Isolation from a Single Canine Retina for RPE Phagocytosis Assay
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    Chapter 73 Preservation of Photoreceptor Nanostructure for Electron Tomography Using Transcardiac Perfusion Followed by High-Pressure Freezing and Freeze-Substitution
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    Chapter 74 Microtubule-Associated Protein 1 Light Chain 3 (LC3) Isoforms in RPE and Retina
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    Chapter 75 The iPSc-Derived Retinal Tissue as a Tool to Study Growth Factor Production in the Eye
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    Chapter 76 Stem Cell-Based RPE Therapy for Retinal Diseases: Engineering 3D Tissues Amenable for Regenerative Medicine
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    Chapter 77 Validation of iPS Cell-Derived RPE Tissue in Animal Models
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    Chapter 78 Cell Transplantation for Retinal Degeneration: Transition from Rodent to Nonhuman Primate Models
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    Chapter 79 Talaumidin Promotes Neurite Outgrowth of Staurosporine-Differentiated RGC-5 Cells Through PI3K/Akt-Dependent Pathways
Attention for Chapter 32: A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies
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Chapter title
A Mini-Review: Leber Congenital Amaurosis: Identification of Disease-Causing Variants and Personalised Therapies
Chapter number 32
Book title
Retinal Degenerative Diseases
Published in
Advances in experimental medicine and biology, January 2018
DOI 10.1007/978-3-319-75402-4_32
Pubmed ID
Book ISBNs
978-3-31-975401-7, 978-3-31-975402-4
Authors

J. A. Thompson, J. N. De Roach, T. L. McLaren, T. M. Lamey, Thompson, J. A., De Roach, J. N., McLaren, T. L., Lamey, T. M.

Abstract

Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes.A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs.Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 3 17%
Student > Doctoral Student 2 11%
Unspecified 1 6%
Student > Ph. D. Student 1 6%
Student > Master 1 6%
Other 2 11%
Unknown 8 44%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 17%
Medicine and Dentistry 2 11%
Unspecified 1 6%
Nursing and Health Professions 1 6%
Pharmacology, Toxicology and Pharmaceutical Science 1 6%
Other 2 11%
Unknown 8 44%