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. Special focus is highlighted in the areas of Mechanisms of Photoreceptor Degeneration and Cell Death (extremely important because very little is known how or why photoreceptors die in these diseases, despite an abundance of genetic information), Age-Related Macular Degeneration (with several novel approaches to its analysis), Usher Syndrome (the most severe form of retinitis…mehr
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. Special focus is highlighted in the areas of Mechanisms of Photoreceptor Degeneration and Cell Death (extremely important because very little is known how or why photoreceptors die in these diseases, despite an abundance of genetic information), Age-Related Macular Degeneration (with several novel approaches to its analysis), Usher Syndrome (the most severe form of retinitis pigmentosa, which includes an early or congenital loss of hearing along with blindness), and Gene Therapy. In addition, the section on Basic Science Related to Retinal Degeneration is particularly strong with several laboratories reporting on new discoveries in the area of outer segment phagocytosis, a key component of photoreceptor-retinal pigment epithelial cell interactions in normal and degenerating retinas.
1. IDENTIFICATION OF THE RP1 AND RP10 (IMPDH1) GENES CAUSING AUTOSOMAL DOMINANT RP.- 2. ON THE ROLE OF IMPDH1 IN RETINAL DEGENERATION.- 3. AN INTEGRATED GENETIC APPROACH TO IDENTIFY CANDIDATE GENES FOR HUMAN CHROMOSOME 6q-LINKED RETINAL DISORDERS.- 4. MOUSE GENETIC APPROACHES TO ACCESS PATHWAYS IMPORTANT IN RETINAL FUNCTION: A VALUABLE TOOL FOR THE ASSESSMENT OF NOVEL GENE THERAPIES.- 5. RETINAL DEGENERATIVE DISORDERS IN SOUTHERN AFRICA:A MOLECULAR GENETIC APPROACH.- 6. COMPARING ROD AND CONE FUNCTION WITH FUNDUS AUTOFLUORESCENCE IMAGES IN RETINITIS PIGMENTOSA.- 7. A MODIFIED PROTOCOL FOR THE ASSESSMENT OF VISUAL FUNCTION IN PATIENTS WITH RETINITIS PIGMENTOSA.- 8. PRENATAL HUMAN OCULAR DEGENERATION OCCURS IN LEBER'S CONGENITAL AMAUROSIS: (LCA 1 and 2).- 9. LEBER CONGENITAL AMAUROSIS - GENOTYPING REQUIRED FOR POSSIBLE INCLUSION IN A CLINICAL TRIAL.- 10. TREATMENT OF CYSTOID MACULAR EDEMA RELATED TO RETINITIS PIGMENTOSA WITH INTRAVITREAL TRIAMCINOLONE ACETONIDE: CASE REPORT.- 11. PROTEOMIC APPROACHES TO UNDERSTANDING AGE-RELATED MACULAR DEGENERATION.- 12. PROGRESSIVE PATHWAYS IN AGE-RELATED MACULAR DEGENERATION.- 13. TISSUE INHIBITOR OF METALLOPROTEINASES-3 AND SORSBY FUNDUS DYSTROPHY.- 14. INVESTIGATIONS OF RPE CELLS OF CHORIODAL NEOVASCULAR MEMBRANES FROM PATIENTS WITH AGE-RELATED MACULA DEGENERATION.- 15. RETINAL AND CHOROIDAL ALTERATIONS FOLLOWING PHOTODYNAMIC THERAPY.- 16. USHER SYNDROME: CORRELATION BETWEEN VISUAL FIELD SIZE AND MAXIMAL ERG RESPONSE B-WAVE AMPLITUDE.- 17. THE CELLULAR FUNCTION OF THE USHER GENE PRODUCT MYOSIN VIIA IS SPECIFIED BY ITS LIGANDS.- 18. MOUSE MODELS FOR USHER SYNDROME 1B.- 19. SCREEN FOR USHER SYNDROME 1B MUTATIONS IN THE OVINE MYOSIN VIIA GENE.- 20. PHOTORECEPTOR INTERSEGMENTAL TRANSPORT AND RETINAL DEGENERATION: A CONSERVED PATHWAYCOMMON TO MOTILE AND SENSORY CILIA.- 21. INHERITED RETINAL DYSTROPHY IN MER KNOCKOUT MICE 165 Jacque L. Duncan.- 22. MOUSE MODELS OF HUMAN RETINAL DISEASE CAUSED BY EXPRESSION OF MUTANT RHODOPSIN.- 23. EVALUATION OF INNER RETINAL STRUCTURE IN THE AGED RCS RAT.- 24. THE INTACT XENOPUS LAE VIS EYE RUDIMENT: A QUASI-IN VIVO SYSTEM FOR THE STUDY OF RETINAL DEVELOPMENT AND DEGENERATIONS.- 25. STREPTOZOTOCIN-INDUCED DIABETES - A RAT MODEL TO STUDY INVOLVEMENT OF RETINAL CELL TYPES IN THE ONSET OF DIABETIC RETINOPATHY.- 26. A2E, A FLUOROPHORE OF RPE LIPOFUSCIN: CAN IT CAUSE RPE DEGENERATION?.- 27. BRIGHT LIGHT INDUCES RETINAL DEGENERATION BY A TRANSDUCIN-INDEPENDENT MECHANISM.- 28. DOES CONSTITUTIVE PHOSPHORYLATION PROTECT AGAINST PHOTORECEPTOR DEGENERATION IN RPE6S'MICE?.- 29. LIGHT-INDUCED PHOTORECEPTOR DAMAGE TRIGGERS DNA REPAIR: DIFFERENTIAL FATE OF RODS AND CONES.- 30. MITOCHONDRIAL DELETIONS IN NORMAL AND DEGENERATING RAT RETINA.- 31. QUANTITATIVE PCR ANALYSIS OF FosB mRNA EXPRESSION AFTER SHORT DURATION OXYGEN AND LIGHT STRESS.- 32. METABOLIC MODULATION OF VISUAL SENSITIVITY.- 33. MITOCHONDRIAL UNCOUPLING PROTEINS: REGULATORS OF RETINAL CELL DEATH.- 34. ENERGY DEPLETION HYPOTHESIS FOR RETINITIS PIGMENTOSA.- 35. FUNCTIONAL STUDIES OF AIPL1: POTENTIAL ROLE OF AIPL1 IN CELL CYCLE EXIT AND/OR DIFFERENTIATION OF PHOTORECEPTORS.- 36. PHOTORECEPTOR DEGENERATION IN PRO23HIS AND S334TER TRANSGENIC RATS.- 37. RETINAL DEGENERATION CAUSED BY MUTATIONS IN TULP1.- 38. TOWARDS UNDERSTANDING THE FUNCTION OF THE TUBBY GENE FAMILY IN THE RETINA.- 39. IDENTIFICATION OF DOWNSTREAM MECHANISMS INVOLVED IN PEDF'S ACTIVITY IN THE RETINA BY LARGE SCALE GENE EXPRESSION PROFILING.- 40. THE nob MUTATION DOES NOT PROTECT AGAINST LIGHT-INDUCED RETINAL DEGENERATION.- 41. THE PHAGOCYTOSIS OF OSIS MEDIATED BY THE PI3-KINASE LINKED TYROSINE KINASE RECEPTOR, MER, AND IS STIMULATED BY GAS6.- 42. ROLE OF avß5 INTEGRIN IN REGULATING PHAGOCYTOSIS BY THE RETINAL PIGMENT EPITHELIUM.- 43. COMPARATIVE STUDY OF CATHEPSIN D AND S IN RAT IPE AND RPE CELLS.- 44. ISOLATION AND CULTURE OF PRIMARY MOUSE RETINAL PIGMENTED EPITHELIAL CELLS.- 45. REGULATION OF THE VISUAL CYCLE: RETINOL DEHYDROGENASE AND RETINOL FLUORESCENCE MEASUREMENTS IN VERTEBRATE RETINA.- 46. MELATONIN ENHANCES RETINOIC ACID INDUCTION OF CONE ARRESTIN GENE EXPRESSION IN RETINOBLASTOMA CELLS.- 47. REGULATION OF RETINAL PHOSPHOINOSITIDE 3-KINASE ACTIVITY IN P85a-SUBUNIT KNOCKOUT MICE.- 48. PERIPHERIN/RDS IN SKATE RETINA.- 49. MAP PROTECTS PHOTORECEPTORS FROM N-METHYL-N-NITROSOUREA-INDUCED RETINAL DEGENERATION.- 50. NEUROPROTECTIVE EFFECT OF ESTROGEN UPON RETINAL NEURONS IN VITRO.- 51. TRANSGENIC RD MICE HARBORING AXOKINE GENE BY RPE65GENE PROMOTER DOES NOT RESCUE PHOTORECEPTOR DEGENERATION.- 52. MARROW STROMAL CELLS-MSCs: A SPECIES COMPARISON.- 53. GENE THERAPY FOR LEBER CONGENITAL AMAUROSIS.- 54. FUNCTIONAL AND STRUCTURAL EVALUATION AFTER AAV.RPE65 GENE TRANSFER IN THE CANINE MODEL OF LEBER'S CONGENITAL AMAUROSIS.- 55. ASSESSMENT OF rAAV-MEDIATED GENE THERAPY IN THE Rpe65MOUSE.- 56. MüLLER CELL TRANSDUCTION BY AAV2 IN NORMAL AND DEGENERATIVE RETINAS.- 57. VIRUS-MEDIATED SECRETION GENE THERAPY-A POTENTIAL TREATMENT FOR OCULAR NEOVASCULARIZATION.- ABOUT THE EDITORS.
1. IDENTIFICATION OF THE RP1 AND RP10 (IMPDH1) GENES CAUSING AUTOSOMAL DOMINANT RP.- 2. ON THE ROLE OF IMPDH1 IN RETINAL DEGENERATION.- 3. AN INTEGRATED GENETIC APPROACH TO IDENTIFY CANDIDATE GENES FOR HUMAN CHROMOSOME 6q-LINKED RETINAL DISORDERS.- 4. MOUSE GENETIC APPROACHES TO ACCESS PATHWAYS IMPORTANT IN RETINAL FUNCTION: A VALUABLE TOOL FOR THE ASSESSMENT OF NOVEL GENE THERAPIES.- 5. RETINAL DEGENERATIVE DISORDERS IN SOUTHERN AFRICA:A MOLECULAR GENETIC APPROACH.- 6. COMPARING ROD AND CONE FUNCTION WITH FUNDUS AUTOFLUORESCENCE IMAGES IN RETINITIS PIGMENTOSA.- 7. A MODIFIED PROTOCOL FOR THE ASSESSMENT OF VISUAL FUNCTION IN PATIENTS WITH RETINITIS PIGMENTOSA.- 8. PRENATAL HUMAN OCULAR DEGENERATION OCCURS IN LEBER'S CONGENITAL AMAUROSIS: (LCA 1 and 2).- 9. LEBER CONGENITAL AMAUROSIS - GENOTYPING REQUIRED FOR POSSIBLE INCLUSION IN A CLINICAL TRIAL.- 10. TREATMENT OF CYSTOID MACULAR EDEMA RELATED TO RETINITIS PIGMENTOSA WITH INTRAVITREAL TRIAMCINOLONE ACETONIDE: CASE REPORT.- 11. PROTEOMIC APPROACHES TO UNDERSTANDING AGE-RELATED MACULAR DEGENERATION.- 12. PROGRESSIVE PATHWAYS IN AGE-RELATED MACULAR DEGENERATION.- 13. TISSUE INHIBITOR OF METALLOPROTEINASES-3 AND SORSBY FUNDUS DYSTROPHY.- 14. INVESTIGATIONS OF RPE CELLS OF CHORIODAL NEOVASCULAR MEMBRANES FROM PATIENTS WITH AGE-RELATED MACULA DEGENERATION.- 15. RETINAL AND CHOROIDAL ALTERATIONS FOLLOWING PHOTODYNAMIC THERAPY.- 16. USHER SYNDROME: CORRELATION BETWEEN VISUAL FIELD SIZE AND MAXIMAL ERG RESPONSE B-WAVE AMPLITUDE.- 17. THE CELLULAR FUNCTION OF THE USHER GENE PRODUCT MYOSIN VIIA IS SPECIFIED BY ITS LIGANDS.- 18. MOUSE MODELS FOR USHER SYNDROME 1B.- 19. SCREEN FOR USHER SYNDROME 1B MUTATIONS IN THE OVINE MYOSIN VIIA GENE.- 20. PHOTORECEPTOR INTERSEGMENTAL TRANSPORT AND RETINAL DEGENERATION: A CONSERVED PATHWAYCOMMON TO MOTILE AND SENSORY CILIA.- 21. INHERITED RETINAL DYSTROPHY IN MER KNOCKOUT MICE 165 Jacque L. Duncan.- 22. MOUSE MODELS OF HUMAN RETINAL DISEASE CAUSED BY EXPRESSION OF MUTANT RHODOPSIN.- 23. EVALUATION OF INNER RETINAL STRUCTURE IN THE AGED RCS RAT.- 24. THE INTACT XENOPUS LAE VIS EYE RUDIMENT: A QUASI-IN VIVO SYSTEM FOR THE STUDY OF RETINAL DEVELOPMENT AND DEGENERATIONS.- 25. STREPTOZOTOCIN-INDUCED DIABETES - A RAT MODEL TO STUDY INVOLVEMENT OF RETINAL CELL TYPES IN THE ONSET OF DIABETIC RETINOPATHY.- 26. A2E, A FLUOROPHORE OF RPE LIPOFUSCIN: CAN IT CAUSE RPE DEGENERATION?.- 27. BRIGHT LIGHT INDUCES RETINAL DEGENERATION BY A TRANSDUCIN-INDEPENDENT MECHANISM.- 28. DOES CONSTITUTIVE PHOSPHORYLATION PROTECT AGAINST PHOTORECEPTOR DEGENERATION IN RPE6S'MICE?.- 29. LIGHT-INDUCED PHOTORECEPTOR DAMAGE TRIGGERS DNA REPAIR: DIFFERENTIAL FATE OF RODS AND CONES.- 30. MITOCHONDRIAL DELETIONS IN NORMAL AND DEGENERATING RAT RETINA.- 31. QUANTITATIVE PCR ANALYSIS OF FosB mRNA EXPRESSION AFTER SHORT DURATION OXYGEN AND LIGHT STRESS.- 32. METABOLIC MODULATION OF VISUAL SENSITIVITY.- 33. MITOCHONDRIAL UNCOUPLING PROTEINS: REGULATORS OF RETINAL CELL DEATH.- 34. ENERGY DEPLETION HYPOTHESIS FOR RETINITIS PIGMENTOSA.- 35. FUNCTIONAL STUDIES OF AIPL1: POTENTIAL ROLE OF AIPL1 IN CELL CYCLE EXIT AND/OR DIFFERENTIATION OF PHOTORECEPTORS.- 36. PHOTORECEPTOR DEGENERATION IN PRO23HIS AND S334TER TRANSGENIC RATS.- 37. RETINAL DEGENERATION CAUSED BY MUTATIONS IN TULP1.- 38. TOWARDS UNDERSTANDING THE FUNCTION OF THE TUBBY GENE FAMILY IN THE RETINA.- 39. IDENTIFICATION OF DOWNSTREAM MECHANISMS INVOLVED IN PEDF'S ACTIVITY IN THE RETINA BY LARGE SCALE GENE EXPRESSION PROFILING.- 40. THE nob MUTATION DOES NOT PROTECT AGAINST LIGHT-INDUCED RETINAL DEGENERATION.- 41. THE PHAGOCYTOSIS OF OSIS MEDIATED BY THE PI3-KINASE LINKED TYROSINE KINASE RECEPTOR, MER, AND IS STIMULATED BY GAS6.- 42. ROLE OF avß5 INTEGRIN IN REGULATING PHAGOCYTOSIS BY THE RETINAL PIGMENT EPITHELIUM.- 43. COMPARATIVE STUDY OF CATHEPSIN D AND S IN RAT IPE AND RPE CELLS.- 44. ISOLATION AND CULTURE OF PRIMARY MOUSE RETINAL PIGMENTED EPITHELIAL CELLS.- 45. REGULATION OF THE VISUAL CYCLE: RETINOL DEHYDROGENASE AND RETINOL FLUORESCENCE MEASUREMENTS IN VERTEBRATE RETINA.- 46. MELATONIN ENHANCES RETINOIC ACID INDUCTION OF CONE ARRESTIN GENE EXPRESSION IN RETINOBLASTOMA CELLS.- 47. REGULATION OF RETINAL PHOSPHOINOSITIDE 3-KINASE ACTIVITY IN P85a-SUBUNIT KNOCKOUT MICE.- 48. PERIPHERIN/RDS IN SKATE RETINA.- 49. MAP PROTECTS PHOTORECEPTORS FROM N-METHYL-N-NITROSOUREA-INDUCED RETINAL DEGENERATION.- 50. NEUROPROTECTIVE EFFECT OF ESTROGEN UPON RETINAL NEURONS IN VITRO.- 51. TRANSGENIC RD MICE HARBORING AXOKINE GENE BY RPE65GENE PROMOTER DOES NOT RESCUE PHOTORECEPTOR DEGENERATION.- 52. MARROW STROMAL CELLS-MSCs: A SPECIES COMPARISON.- 53. GENE THERAPY FOR LEBER CONGENITAL AMAUROSIS.- 54. FUNCTIONAL AND STRUCTURAL EVALUATION AFTER AAV.RPE65 GENE TRANSFER IN THE CANINE MODEL OF LEBER'S CONGENITAL AMAUROSIS.- 55. ASSESSMENT OF rAAV-MEDIATED GENE THERAPY IN THE Rpe65MOUSE.- 56. MüLLER CELL TRANSDUCTION BY AAV2 IN NORMAL AND DEGENERATIVE RETINAS.- 57. VIRUS-MEDIATED SECRETION GENE THERAPY-A POTENTIAL TREATMENT FOR OCULAR NEOVASCULARIZATION.- ABOUT THE EDITORS.
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