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Retinal Degenerative Diseases

  • Conference proceedings
  • © 2006

Overview

Editors:
  1. Joe G. Hollyfield

    1. Cleveland Clinic Foundation, Cleveland, USA

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  2. Robert E. Anderson

    1. Dean Mcgee Eye Institute, University of Oklahoma, Oklahoma City

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  3. Matthew M. LaVail

    1. University of California, San Francisco, San Francisco, USA

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  • There is a special focus in the areas of mechanisms and photoreceptor degeneration and cell death
  • Includes supplementary material: sn.pub/extras

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Table of contents (74 papers)

  1. Front Matter

    Pages i-xxii
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  2. Molecular Genetics and Candidate Genes

    1. Front Matter

      Pages 1-1
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    2. Genetic Factors Modifying Clinical Expression of Autosomal Dominant RP

      • Stephen P. Daiger, Suma P. Shankar, Alice B. Schindler, Lori S. Sullivan, Sara J. Bowne, Terri M. King et al.
      Pages 3-8

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

      • Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Hélène Dollfus, Jean-Louis Dufier, Josué Feingold et al.
      Pages 9-14

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

      • Sylvain Hanein, Isabelle Perrault, Sylvie Gerber, Gaëlle Tanguy, Jean-Michel Rozet, Josseline Kaplan
      Pages 15-20

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

      • Fabienne Barbet, Sylvie Gerber, Sélim Hakiki, Isabelle Perrault, Sylvain Hanein, Dominique Ducroq et al.
      Pages 21-27

    6. RCC1-Like Domain and ORF15: Essentials in RPGR Gene

      • Zi-Bing Jin, Mutsuko Hayakawa, Akira Murakami, Nobuhisa Nao-i
      Pages 29-33

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

      • Darius M. Moshfeghi, Zhenglin Yang, Nathan D. Faulkner, Goutam Karan, Sukanya Thirumalaichary, Erik Pearson et al.
      Pages 35-40

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

      • Xinhua Shu, Brian Tulloch, Alan Lennon, Caroline Hayward, Mary O’Connell, Artur V. Cideciyan et al.
      Pages 41-48

    9. Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations

      • Makoto Nakamura, Jian Lin, Koji Nishiguchi, Mineo Kondo, Jiro Sugita, Yozo Miyake
      Pages 49-53

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

    1. Front Matter

      Pages 55-55
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    2. Fundus Appearance of Choroideremia Using Optical Coherence Tomograpy

      • Bradley J. Katz, Zhenglin Yang, Marielle Payne, Yin Lin, Yu Zhao, Erik Pearson et al.
      Pages 57-61

    3. A2E, A Fluorophore of RPE Lipofuscin, Can Destabilize Membrane

      • Janet R. Sparrow, Bolin Cai, Young Pyo Jang, Jilin Zhou, Koji Nakanishi
      Pages 63-68

    4. Amino-Retinoid Compounds in the Human Retinal Pigment Epithelium

      • Heidi R. Vollmer-Snarr, McKenzie R. Pew, Mary L. Alvarez, D. Joshua Cameron, Zhibing Chen, Glenn L. Walker et al.
      Pages 69-74

    5. Annexins in Bruch’s Memberane and Drusen

      • Mary E. Rayborn, Hirokazu Sakaguchi, Karen G. Shadrach, John W. Crabb, Joe G. Hollyfield
      Pages 75-78

  4. Animal Models of Retinal Degeneration

    1. Front Matter

      Pages 79-79
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    2. Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by IMPDH1 Mutations

      • Aileen Aherne, Avril Kennan, Paul F. Kenna, Niamh McNally, G. Jane Farrar, Pete Humphries
      Pages 81-87

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

      • Matthew L. Schwartz, James B. Hurley, Visvanathan Ramamurthy
      Pages 89-94

    4. Characterization of Mouse Mutants with Abnormal RPE Cells

      • Chun-hong Xia, Haiquan Liu, Meng Wang, Debra Cheung, Alex Park, Yang Yang et al.
      Pages 95-100

    5. Rod and Cone Pigment Regeneration in RPE65 -/- Mice

      • Baerbel Rohrer, Rosalie Crouch1
      Pages 101-107
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Keywords

About this book

Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration.

Editors and Affiliations

  • Cleveland Clinic Foundation, Cleveland, USA

    Joe G. Hollyfield

  • Dean Mcgee Eye Institute, University of Oklahoma, Oklahoma City

    Robert E. Anderson

  • University of California, San Francisco, San Francisco, USA

    Matthew M. LaVail

Bibliographic Information

  • Book Title: Retinal Degenerative Diseases

  • Editors: Joe G. Hollyfield, Robert E. Anderson, Matthew M. LaVail

  • DOI: https://doi.org/10.1007/0-387-32442-9

  • Publisher: Springer New York, NY

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature 2006

  • Hardcover ISBN: 978-0-387-28464-4Published: 05 January 2006

  • Softcover ISBN: 978-1-4899-9772-2Published: 25 November 2014

  • eBook ISBN: 978-0-387-32442-5Published: 06 August 2007

  • Edition Number: 1

  • Number of Pages: XXII, 557

  • Topics: Anatomy, Ophthalmology, Quality of Life Research, Epidemiology, Life Sciences, general

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