New Insights Into Retinal Degenerative Diseases

Since 1984, we have organized satellite symposia on retinal degenerations that are held in conjunction with the biennial International Congress of Eye Research. The timing and location of our Retinal Degeneration Symposia have allowed scientists and clinicians from around the world to convene and present their exciting new findings. The symposia have been arranged to allow ample time for discussions and one-on-one interactions in a relaxed atmosphere, where international friendships and collaborations could be established. The IXth International Symposium on Retinal Degeneration was held on October 9-14, 2000 in Durango, Colorado and was attended by over 100 scientists from six continents. This book contains many of their presentations. Several events of note occurred at this meeting. First, thanks to the generous support of the Foundation Fighting Blindness, we were able to sponsor the travel of 11 young scientists from six countries. Most of them have contributed chapters to this volume. The response to the travel program was so overwhelming that we will make it regular feature of our meeting. This will allow other bright, young investigators to be introduced to the world experts who study retinal degenerations. Second, about 40% of the scientists who attended this meeting were there for the first time. We believe that this indicates a growing interest in retinal degeneration research and ensures that new talent will be attracted to this important area of investigation. The symposium received support from several organizations.

Part I: Molecular Biology Studies in Human Retinal Degenerations. 1. Clinical Spectrum In Autosomal Dominant Stargardt's Macular Dystrophy with a Mutation in ELOVL4 Gene; Y. Li, et al. 2. X-Linked Retinitis Pigmentosa: Current Status; D.K. Breuer, et al. 3. Clinical Variability of Patients Associated with RDH5 Gene Mutation; Y. Wada, et al. 4. Japanese Patients with Fundus Albipunctatus Caused by RDH5 Gene Mutations; M. Nakamura, et al. 5. Functional Analysis of AIPLI1: A novel photoreceptor-pineal-specific protein causing Leber congenital amaurosis and other retinopathies; M.M. Sohocki, et al. 6. Searching for Genotype-Phenotype Correlations in X-Linked Juvenile Retinoschisis; K.T. Hiriyanna, et al. 7. RP1 Mutation Analysis; S.J. Bowne, et al. 8. The Molecular Basis of Achromatopsia; S. Kohl, et al. 9. Characterisation of the CRX Gene; Identification of Alternatively Spliced 5' Exons and 3' Sequence; M.D. Hodges, et al. 10. Rhodopsin Mutations in Sectorial Retinitis Pigmentosa; S. Kaushal, et al. Part II: Treatment. 11. Chronic Administration of Phenyl N-tert-Butylnitrone Protects the Retina Against Light Damage; I. Ranchon, et al. 12. Systems for Delivery of Vitamin A to the Retina in Retinitis Pigmentosa; E.M. Semenova, et al. 13. Timecourse of bFGF and CNTF Expression in Light-Induced Photoreceptor Degeneration in the Rat Retina; N. Walsh, J. Stone. 14. Role of Pigment Epithelium-Derived Factor (PEDF) in Photoreceptor Cell Protection; W. Cao, et al. 15. Characterization and Localization of Pigment Epithelium-Derived Factor Binding Sites in the Bovine Retina; M.S. Aymerich, et al. 16. Leukemia Inhibitory Factor Prevents Photoreceptor Cell Death in rd-/- Mice by Blocking Functional Differentiation; J. Ash. 17. Glycobiological Approach to Control of Retinal Dgeneration; F. Uehara, et al. 18. A Multidisciplinary Approach to Investigating Optic Nerve Regeneration in the Goldfish; M. Devadas, et al. 19. Intact-Sheet Fetal Retinal Transplants Can Repair Degenerated Retinas; M.J. Seiler, R.B. Aramant. 20. Evaluation of an Artificial Retina in Rodent Models of Photoreceptor Degeneration; S.L. Ball, et al. Part III: Mechanisms of Retinal Dgeneration. 21. The Role of Fatty Acids in the Pathogenesis of Retinal Degeneration; D.C. Garibaldi, et al. 22. Circadian Signaling in the Retina: The role of melatonin in photoreceptor degeneration; A.F. Wiechmann. 23. Localization and Functional Analysis of Bestrophin; G. Hoppe, et al. 24. Pathogenicity of Myelin Basic Protein in Anterior Uveitis: Pathogenicity of MBP in uveitis; G. Adamus, et al. 25. A2E Inhibits Mitochondrial Function, Causes the Release of Pro-Apoptotic Proteins and Induces Apoptosis in Mammalian Cells; C. Grimm, et al. Part IV: Animal/Tissue Culture Studies. 26. DHA Levels in Rod Outer Segments of Transgenic Mice Expressing G90D Rhodopsin Mutations; R.E. Anderson, et al. 27. Application of Polymerase Chain Reaction in Deletion and Inversion of Internal DNA Fragments; T. Cheng, et al. 28. The cGMP-Phospho