Retinal Degenerative Diseases

  • Joe G. Hollyfield
  • Robert E. Anderson
  • Matthew M. LaVail
Conference proceedings

DOI: 10.1007/0-387-32442-9

Part of the Advances in Experimental Medicine and Biology book series (volume 572)

Table of contents (74 papers)

  1. Front Matter
    Pages i-xxii
  2. Molecular Genetics and Candidate Genes

    1. Front Matter
      Pages 1-1
    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. 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
    5. RCC1-Like Domain and ORF15: Essentials in RPGR Gene
      Zi-Bing Jin, Mutsuko Hayakawa, Akira Murakami, Nobuhisa Nao-i
      Pages 29-33
    6. 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
    7. 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
    8. 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
    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
    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

About these proceedings


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.


chromosome epidemiology etiology genes genetics macular degeneration retina

Editors and affiliations

  • Joe G. Hollyfield
    • 1
  • Robert E. Anderson
    • 2
  • Matthew M. LaVail
    • 3
  1. 1.Cleveland Clinic FoundationClevelandUSA
  2. 2.Dean Mcgee Eye InstituteUniversity of OklahomaOklahoma City
  3. 3.University of California, San FranciscoSan FranciscoUSA

Bibliographic information

  • Copyright Information Springer Science+Business Media, Inc. 2006
  • Publisher Name Springer, Boston, MA
  • eBook Packages Medicine
  • Print ISBN 978-0-387-28464-4
  • Online ISBN 978-0-387-32442-5
  • Series Print ISSN 0065-2598