New Insights Into Retinal Degenerative Diseases

I. Molecular Biology Studies in Human Retinal Degenerations.- 1. Clinical Spectrum In Autosomal Dominant Stargardt’s Macular Dystrophy with a Mutation in ELOVL4 Gene.- 2. X-Linked Retinitis Pigmentosa: Current Status.- 3. Clinical Variability of Patients Associated with RDH5 Gene Mutation.- 4. Japanese Patients with Fundus Albipunctatus Caused by RDH5 Gene Mutations.- 5. Functional Analysis of AIPL1: A Novel Photoreceptor-Pineal-Specific Protein Causing Leber Congenital Amaurosis and Other Retinopathies.- 6. Searching for Genotype-Phenotype Correlations in X-Linked Juvenile Retinoschisis.- 7. RP1 Mutation Analysis.- 8. The Molecular Basis of Achromatopsia.- 9. Characterisation of the CRX Gene; Identification of Alternatively Spliced 5’ Exons and 3’ Sequence.- 10. Rhodopsin Mutations in Sectorial Retinitis Pigmentosa.- II. Treatment.- 11. Chronic Administration of Phenyl N-tert-Butylnitrone Protects the Retina Against Light Damage.- 12. Systems for Delivery of Vitamin A to the Retina in Retinitis Pigmentosa.- 13. Timecourse of bFGF and CNTF Expression in Light-Induced Photoreceptor Degeneration in the Rat Retina.- 14. Role of Pigment Epithelium-Derived Factor (PEDF) in Photoreceptor Cell Protection.- 15. Characterization and Localization of Pigment Epithelium-Derived Factor Binding Sites in the Bovine Retina.- 16. Leukemia Inhibitory Factor Prevents Photoreceptor Cell Death in rd-/- Mice by Blocking Functional Differentiation: LIF Alters Gene Expression in Photoreceptors.- 17. Glycobiological Approach to Control of Retinal Degeneration.- 18. A Multidisciplinary Approach to Investigating Optic Nerve Regeneration in the Goldfish.- 19. Intact-Sheet Fetal Retinal Transplants Can Repair Degenerated Retinas.- 20. Evaluation of an Artificial Retina in Rodent Models ofPhotoreceptor Degeneration.- III. Mechanisms of Retinal Degeneration.- 21. The Role of Fatty Acids in the Pathogenesis of Retinal Degeneration.- 22. Circadian Signaling in the Retina: The Role of Melatonin in Photoreceptor Degeneration.- 23. Localization and Functional Analysis of Bestrophin.- 24. Pathogenicity of Myelin Basic Protein in Anterior Uveitis: Pathogenicity of MBP in Uveitis.- 25. A2E Inhibits Mitochondrial Function, Causes the Release of Pro-Apoptotic Proteins and Induces Apoptosis in Mammalian Cells.- IV. Animal/Tissue Culture Studies.- 26. DHA Levels in Rod Outer Segments of Transgenic Mice Expressing G90D Rhodopsin Mutations.- 27. Application of Polymerase Chain Reaction in Deletion and Inversion of Internal DNA Fragments.- 28. The cGMP-Phosphodiesterase (?-Subunit Gene: Transcriptional and Post-Transcriptional Regulation.- 29. Organization of the Chicken and Xenopus Peripherin/rds Gene.- 30. Changed Interaction of L-Type Ca2+ Channels and Receptor Tyrosine Kinase in RPE Cells from RCS Rats.- 31. Peripheral Rods Evade Light Damage in Albino Trout.- 32. SPACR in the IPM: Glycoprotein in Human, Proteoglycan In Mouse.- 33. Cone Arrestin Expression and Induction in Retinoblastoma Cells.- 34. nob: A Mouse Model of CSNB1.- V. Population Studies.- 35. Unusual Frequencies of Rhodopsin Mutations and Polymorphisms in Southern African Patients with Retinitis Pigmentosa.- 36. Migratory History of Populations and its Use in Determining Research Direction for Retinal Degenerative Disorders.- 37. The Southwest Eye Registry: Distribution of Disease Types and Mutations.- About the Authors.