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Retinal Degenerative Diseases and Experimental Therapy

  • Book
  • © 1999

Overview

Editors:
  1. Joe G. Hollyfield

    1. Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland

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  2. Robert E. Anderson

    1. Dean A. McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City

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  3. Matthew M. LaVail

    1. Beckman Vision Center, University of California, San Francisco, San Francisco

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Table of contents (53 chapters)

  1. Front Matter

    Pages i-xiv
    Download chapter PDF

  2. Specific Gene Defects Cause Photoreceptor Degeneration

    1. Front Matter

      Pages 1-1
      Download chapter PDF

    2. Evidence for Myosin VIIa-Driven Transport of Rhodopsin in the Plasma Membrane of the Photoreceptor-Connecting Cilium

      • Uwe Wolfrum, Angelika Schmitt
      Pages 3-14

    3. Blindness in Usher Syndrome 1B

      • David S. Williams, Xinran Liu, Gordon Vansant, Brian Ondek
      Pages 15-26

    4. Different Mutations in RPE65 Are Associated with Variability in the Severity of Retinal Dystrophy

      • Christian P. Hamel, Françoise Marlhens, Jean-Michel Griffoin, Corinne Bareil, Mireille Claustres, Bernard Arnaud
      Pages 27-33

    5. The RPE65-Deficient Mouse as a Model for RPE65-Associated Leber’s Congenital Amaurosis and Related Disorders

      • T. Michael Redmond
      Pages 35-42

    6. CRALBP and Inherited Retinal Degeneration

      • Breandán N. Kennedy, John C. Saari, John W. Crabb
      Pages 43-53

    7. Guanylyl Cyclase Genes and Their Role in Retinal Degeneration

      • Hans-Jürgen Fülle, Rima Khankan
      Pages 55-65

    8. Loss of Cone and Reduction in Rod ERG Responses in the Guanylyl Cyclase-E (GC-E) Deficient Mouse

      • David G. Birch, Ruey-Bing Yang, Susan W. Robinson, David L. Garbers
      Pages 67-80

    9. Guanylyl Cyclase Gene is the Disease Locus in the rd Chicken

      • Susan L. Semple-Rowland
      Pages 81-93

    10. Leber’s Congenital Amaurosis

      • Matthias C. Grieshaber, Eugen Boltshauser, Günter Niemeyer
      Pages 95-104

    11. Retinal Degeneration is Accelerated when a Mutant Rhodopsin Transgene is Expressed on a Haploid or Null Rhodopsin Background

      • Jeanne Frederick, Nataliia Krasnoperova, Kirstin Hoffmann, Wolfgang Baehr, Janis Lem, Klaus Rüther
      Pages 105-115

    12. Rhodopsin C-Terminal Sequence Qvs(A)Pa Directs Its Sorting To The Ros In Retinal Photoreceptors

      • Dusanka Deretic, Sonia Schmerl, Paul A. Hargrave, Anatol Arendt, J. Hugh McDowell
      Pages 117-128

    13. The Cytoplasmic Tail of Rhodopsin Acts as a Sorting Signal in Polarized Photoreceptors and MDCK Cells

      • Ching-Hwa Sung, Jen-Zen Chuang
      Pages 129-143

    14. A Homozygous 1-Base Pair Deletion (1147dela) in the Arrestin Gene in Autosomal Recessive Retinitis Pigmentosa

      • Mitsuru Nakazawa, Yuko Wada, Makoto Tamai
      Pages 145-150

    15. mRNA Analysis of Oguchi Patients with the Frequent 1147delA Mutation in the Arrestin Gene

      • Yuko Wada, Mitsuru Nakazawa, Toshiaki Abe, Makoto Tamai
      Pages 151-156

    16. Mutation Spectrum in the Rep-1 Gene of Japanese Choroideremia Patients

      • Yoshihiro Hotta, Keiko Fujiki, Mutsuko Hayakawa, Misako Takeda, Nao Kohno, Atsushi Kanai et al.
      Pages 157-163

    17. Phenotype-Genotype Correlations in Retinal Degenerations Caused by Abcr gene Mutations

      • Jean-Michel Rozet, Sylvie Gerber, Imad Ghazi, Isabelle Perrault, Eric Souied, Dominique Ducroq et al.
      Pages 165-174

    18. Autosomal Dominant Macular Degeneration Localized to Chromosome 6q by Linkage Analysis

      • I. B. Griesinger, P. A. Sieving, R. Ayyagari
      Pages 175-181

    19. The Gene Product of IMPG1 is the Glycoprotein SPACR, not an IPM Proteoglycan

      • Shreeta Acharya, Ignacio R. Rodriguez, Joe G. Hollyfield
      Pages 183-187
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Keywords

About this book

To create a forum for scientists and clinicians interested in degenerative retinal diseases, we began in 1984 to organize a biennial symposium on Retinal Degeneration as a satellite meeting of the International Congress of Eye Research. The timing and varying location of these meetings provides an important assembly for investigators from throughout the world to convene for presentation of their new findings on the causes and potential therapies for degenerative retinal disorders. The VIII International Symposium on Retinal Degeneration was held from July 28-25, 1998, at the Hotel Vier Jahreszeiten in Schluchsee, a small town in the Black Forest of southwestern Germany. Most of the participants in this meeting contributed to this volume, and we are appreciative of the efforts of each author in making this publication possible. The research presented at the meeting, and described in this proceedings volume, reflects a strong emphasis on the molecular genetic approach to understa- ing these disorders. Several of the papers provide important new insights into the mechanism of photoreceptor degeneration and cell death. A number of the studies are targeted at retarding or reversing the degeneration process. Included for the first time are presentations from all the principal laboratories involved in the field of visual prostheses-implant (chip) technology-in which investigations are targeted at restoring vision in eyes that have lost photoreceptor cells. A variety of diagnostic, clinical, histopathological, and physiological assessments of retinal degeneration in patients are also included.

Editors and Affiliations

  • Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland

    Joe G. Hollyfield

  • Dean A. McGee Eye Institute, University of Oklahoma Health Sciences Center, Oklahoma City

    Robert E. Anderson

  • Beckman Vision Center, University of California, San Francisco, San Francisco

    Matthew M. LaVail

Bibliographic Information

  • Book Title: Retinal Degenerative Diseases and Experimental Therapy

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

  • DOI: https://doi.org/10.1007/b102440

  • Publisher: Springer New York, NY

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer Science+Business Media New York 1999

  • Softcover ISBN: 978-1-4757-7224-1Published: 02 April 2013

  • eBook ISBN: 978-0-585-33172-0Published: 04 September 2007

  • Edition Number: 1

  • Number of Pages: XV, 587

  • Number of Illustrations: 324 b/w illustrations, 8 illustrations in colour

  • Topics: Ophthalmology, Human Genetics, Biomedical Engineering and Bioengineering, Anatomy, Pharmacology/Toxicology

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