New Insights Into Retinal Degenerative Diseases

ISBN-13: 9780306466793 / Angielski / Twarda / 2001 / 355 str.

Robert E. Anderson; Matthew M. Lavail; Joe G. Hollyfield

Opis

This book contains the proceedings of the IX International Symposium on Retinal Degeneration held October 9-14, 2000, in Durango, Colorado. A majority of those who spoke and presented posters at the meeting contributed to this volume. The chapters reflect a major emphasis on molecular genetics of retinal degenerations, particularly in the areas of candidate genes and in cloning and mapping. Significant new animal models are described, as are several studies on macular degeneration. Studies on animal models, both vertebrate and invertebrate, continue to provide important new findings on the mechanisms of photoreceptor degeneration and cell death, as well as the means to retard, prevent, or reverse the degeneration by potential new therapeutic methods, including transplantation, gene therapy, and survival factors. Diagnostic, clinical, cytopathologic, and physiologic aspects of retinal degenerations in human patients are also presented, as are several papers on structural, physiologic, and ageing studies in normal tissues that are important correlates for the study of retinal degenerations.

Spis treści

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