Retinal Degenerative Diseases

Editors:

ISBN: 978-0-387-28464-4 (Print) 978-0-387-32442-5 (Online)

Table of contents (74 chapters)

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  1. Molecular Genetics and Candidate Genes

    1. Front Matter

      Pages 1-1

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      Book Chapter

      Pages 3-8

      Genetic Factors Modifying Clinical Expression of Autosomal Dominant RP

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      Book Chapter

      Pages 9-14

      Disease-Associated Variants of the Rod-derived Cone Viability Factor (RdCVF) in Leber Congenital Amaurosis

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      Book Chapter

      Pages 15-20

      Leber Congenital Amaurosis: Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition and Phenotype-Genotype Correlations as a Strategy for Molecular Diagnosis

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      Book Chapter

      Pages 21-27

      A First Locus for Isolated Autosomal Recessive Optic Atrophy (ROA1) Maps to Chromosome 8q21-q22

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      Book Chapter

      Pages 29-33

      RCC1-Like Domain and ORF15: Essentials in RPGR Gene

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      Book Chapter

      Pages 35-40

      Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the RDS/Peripherin Gene

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      Book Chapter

      Pages 41-48

      Biochemical Characterisation of the C1QTNF5 Gene Associated with Late-Onset Retinal Degeneration

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      Book Chapter

      Pages 49-53

      Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations

  2. Diagnostic, Clinical, Cytopathological and Physiologic Aspects of Retinal Degeneration

    1. Front Matter

      Pages 55-55

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      Book Chapter

      Pages 57-61

      Fundus Appearance of Choroideremia Using Optical Coherence Tomograpy

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      Book Chapter

      Pages 63-68

      A2E, A Fluorophore of RPE Lipofuscin, Can Destabilize Membrane

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      Book Chapter

      Pages 69-74

      Amino-Retinoid Compounds in the Human Retinal Pigment Epithelium

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      Book Chapter

      Pages 75-78

      Annexins in Bruch’s Memberane and Drusen

  3. Animal Models of Retinal Degeneration

    1. Front Matter

      Pages 79-79

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      Book Chapter

      Pages 81-87

      Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by IMPDH1 Mutations

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      Book Chapter

      Pages 89-94

      Biochemical Function of the LCA Linked Protien, Aryl Hydrocarbon Receptor Interacting Protein Like-1 (AIPL1)

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      Book Chapter

      Pages 95-100

      Characterization of Mouse Mutants with Abnormal RPE Cells

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      Book Chapter

      Pages 101-107

      Rod and Cone Pigment Regeneration in RPE65 -/- Mice

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      Book Chapter

      Pages 109-117

      Initial Observations of Key Features of Age-Related Macular Degeneration in APOE Targeted Replacement Mice

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      Book Chapter

      Pages 119-123

      Altered Rhythm of Photoreceptor Outer Segment Phagocytosis in β5 Integrin Knockout Mice

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      Book Chapter

      Pages 125-131

      Light/Dark Translocation of Alphatransducin in Mouse Photoreceptor Cells Expressing G90D Mutant Opsin

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      Book Chapter

      Pages 133-139

      Slowed Photoresponse Recovery and Age-Related Degeneration in Cones Lacking Gprotein-Coupled Receptor Kinase 1

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