Retinal Degenerative Diseases (eBook)

PREFACE 7
ABOUT THE EDITORS 9
CONTENTS 12
MOLECULAR GENETICS AND CANDIDATE GENES 22
GENETIC FACTORS MODIFYING CLINICAL EXPRESSION OF AUTOSOMAL DOMINANT RP 23
DISEASE-ASSOCIATED VARIANTS OF THE ROD-DERIVED CONE VIABILITY FACTOR ( RdCVF) IN LEBER CONGENITAL AMAUROSIS 29
LEBER CONGENITAL AMAUROSIS: SURVEY OF THE GENETIC HETEROGENEITY, REFINEMENT OF THE CLINICAL DEFINITION AND PHENOTYPE- GENOTYPE CORRELATIONS AS A STRATEGY FOR MOLECULAR DIAGNOSIS 35
A FIRST LOCUS FOR ISOLATED AUTOSOMAL RECESSIVE OPTIC ATROPHY ( ROA1) MAPS TO CHROMOSOME 8q21- q22 41
RCC1-LIKE DOMAIN AND ORF15: ESSENTIALS IN RPGR GENE 48
CHOROIDAL NEOVASCULARIZATION IN PATIENTS WITH ADULT- ONSET FOVEOMACULAR DYSTROPHY CAUSED BY MUTATIONS IN THE RDS/ PERIPHERIN GENE 53
BIOCHEMICAL CHARACTERISATION OF THE C1QTNF5 GENE ASSOCIATED WITH LATE- ONSET RETINAL DEGENERATION 59
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ASSOCIATED WITH CYP4V2 GENE MUTATIONS 67
DIAGNOSTIC, CLINICAL, CYTOPATHOLOGICAL AND PHYSIOLOGIC ASPECTS OF RETINAL DEGENERATION 72
FUNDUS APPEARANCE OF CHOROIDEREMIA USING OPTICAL COHERENCE TOMOGRAPY 73
A2E, A FLUOROPHORE OF RPE LIPOFUSCIN, CAN DESTABILIZE MEMBRANE 78
AMINO-RETINOID COMPOUNDS IN THE HUMAN RETINAL PIGMENT EPITHELIUM 84
ANNEXINS IN BRUCH’S MEMBRANE AND DRUSEN 90
ANIMAL MODELS OF RETINAL DEGENERATION 94
MOLECULAR MECHANISMS OF PHOTORECEPTOR DEGENERATION IN RP CAUSED BY IMPDH1 MUTATIONS 95
BIOCHEMICAL FUNCTION OF THE LCA LINKED PROTIEN, ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE– 1 ( AIPL1) 102
CHARACTERIZATION OF MOUSE MUTANTS WITH ABNORMAL RPE CELLS 108
ROD AND CONE PIGMENT REGENERATION IN RPE65-/- MICE 114
INITIAL OBSERVATIONS OF KEY FEATURES OF AGE- RELATED MACULAR DEGENERATION IN APOE TARGETED REPLACEMENT MICE 121
ALTERED RHYTHM OF PHOTORECEPTOR OUTER SEGMENT PHAGOCYTOSIS IN b5 INTEGRIN KNOCKOUT MICE 130
LIGHT/DARK TRANSLOCATION OF ALPHATRANSDUCIN IN MOUSE PHOTORECEPTOR CELLS EXPRESSING G90D MUTANT OPSIN 135
SLOWED PHOTORESPONSE RECOVERY AND AGE- RELATED DEGENERATION IN CONES LACKING G PROTEIN- COUPLED RECEPTOR KINASE 1 142
TRANSGENIC ANIMAL STUDIES OF HUMAN RETINAL DISEASE CAUSED BY MUTATIONS IN PERIPHERIN/ RDS 149
TRANSGENIC EXPRESSION OF LEUKEMIA INHIBITORY FACTOR INHIBITS BOTH ROD AND CONE GENE EXPRESSION 155
A ROLE FOR BHLH TRANSCRIPTION FACTORS IN RETINAL DEGENERATION AND DYSFUNCTION 162
CHARACTERISATION OF A MODEL FOR RETINAL NEOVASCULARISATION 169
A TWO-ALTERNATIVE, FORCED CHOICE METHOD FOR ASSESSING MOUSE VISION 175
CONDITIONAL GENE KNOCKOUT SYSTEM IN CONE PHOTORECEPTORS 179
REGULATION OF TIGHT JUNCTION PROTEINS IN CULTURED RETINAL PIGMENT EPITHELIAL CELLS AND IN VEGF OVEREXPRESSING TRANSGENIC MOUSE RETINAS 185
PATHOLOGICAL HETEROGENEITY OF VASOPROLIFERATIVE RETINOPATHY IN TRANSGENIC MICE OVEREXPRESSING VASCULAR ENDOTHELIAL GROWTH FACTOR IN PHOTORECEPTORS 192
LASER PHOTOCOAGULATION: OCULAR RESEARCH AND THERAPY IN DIABETIC RETINOPATHY 199
APPLYING TRANSGENIC ZEBRAFISH TECHNOLOGY TO STUDY THE RETINA 205
BMI1 LOSS DELAYS PHOTORECEPTOR DEGENERATION IN RD1 MICE 212
TRANSCRIPTIONAL AND POST-TRANSCRIPTIONAL REGULATION OF THE ROD cGMP-PHOSPHODIESTERASE b-SUBUNIT GENE 219
GENE THERAPY AND NEUROPROTECTION 232
DOWN-REGULATION OF RHODOPSIN GENE EXPRESSION BY AAV- VECTORED SHORT INTERFERING RNA 233
ASSESSING THE EFFICACY OF GENE THERAPY IN Rpe65-/- MICE USING PHOTOENTRAINMENT OF CIRCADIAN RHYTHM 239
LENTIVIRAL VECTORS CONTAINING A RETINAL PIGMENT EPITHELIUM SPECIFIC PROMOTER FOR LEBER CONGENITAL AMAUROSIS GENE THERAPY 246
GENE DELIVERY TO THE RETINA USING LENTIVIRAL VECTORS 253
POTENTIAL USE OF CELLULAR PROMOTER(S) TO TARGET RPE IN AAV- MEDIATED DELIVERY 265
CYTOKINE-INDUCED RETINAL DEGENERATION: ROLE OF SUPPRESSORS OF CYTOKINE SIGNALING ( SOCS) PROTEINS IN PROTECTION OF THE NEURORETINA 272
DISEASE MECHANISMS AND GENE THERAPY IN A MOUSE MODEL FOR X- LINKED RETINOSCHISIS 279
MOLECULAR MECHANISMS OF NEUROPROTECTION IN THE EYE 286
RETINAL DAMAGE CAUSED BY PHOTODYNAMIC THERAPY CAN BE REDUCED USING BDNF 291
CONTROLLING VASCULAR ENDOTHELIAL GROWTH FACTOR: THERAPIES FOR OCULAR DISEASES ASSOCIATED WITH NEOVASCULARIZATION 297
INTRAVITREAL INJECTION OF TRIAMCINOLONE ACETONIDE FOR MACULAR EDEMA DUE TO RETINITIS PIGMENTOSA AND OTHER RETINAL DISEASES 302
CONE SURVIVAL: IDENTIFICATION OF RdCVF 308
NEUROPROTECTION OF PHOTORECEPTORS IN THE RCS RAT AFTER IMPLANTATION OF A SUBRETINAL IMPLANT IN THE SUPERIOR OR INFERIOR RETINA 313
GLUTAMATE TRANSPORT MODULATION: A POSSIBLE ROLE IN RETINAL NEUROPROTECTION 319
ACTIVATION OF CELL SURVIVAL SIGNALS IN THE GOLDFISH RETINAL GANGLION CELLS AFTER OPTIC NERVE INJURY 325
USHER SYNDROME 330
ROLES AND INTERACTIONS OF USHER 1 PROTEINS IN THE OUTER RETINA 331
MOLECULAR ANALYSIS OF THE SUPRAMOLECULAR USHER PROTEIN COMPLEX IN THE RETINA 339
STEM CELLS, TRANSPLANTATION AND RETINAL REPAIR 344
LIMITED NEURAL DIFFERENTIATION OF RETINAL PIGMENT EPITHELIUM 345
RETINAL PIGMENT EPITHELIAL CELLS FROM THERMALLY RESPONSIVE POLYMER- GRAFTED SURFACE REDUCE APOPTOSIS 350
RETINAL TRANSPLANTATION 354
MICROARRAY ANALYSIS REVEALS RETINAL STEM CELL CHARACTERISTICS OF THE ADULT HUMAN EYE 364
USING STEM CELLS TO REPAIR THE DEGENERATE RETINA 368
OPTIC NERVE REGENERATION: MOLECULAR PRE- REQUISITES AND THE ROLE OF TRAINING 376
RETINAL GANGLION CELL REMODELLING IN EXPERIMENTAL GLAUCOMA 383
INDUCED RETINAL DEGENERATIONS 389
NEURAL PLASTICITY REVEALED BY LIGHT- INDUCED PHOTORECEPTOR LESIONS 390
FACTORS UNDERLYING CIRCADIAN DEPENDENT SUSCEPTIBILITY TO LIGHT INDUCED RETINAL DAMAGE 396
SPACE FLIGHT ENVIRONMENT INDUCES DEGENERATION IN THE RETINA OF RAT NEONATES 402
TOXICITY OF HYPEROXIA TO THE RETINA: EVIDENCE FROM THE MOUSE 410
TREATMENT WITH CARBONIC ANHYDRASE INHIBITORS DEPRESSES ELECTRORETINOGRAM RESPONSIVENESS IN MICE 423
INJURY-INDUCED RETINAL GANGLION CELL LOSS IN THE NEONATAL RAT RETINA 431
BASIC SCIENCE UNDERLYING RETINAL DEGENERATION 436
ARRESTIN TRANSLOCATION IN ROD PHOTORECEPTORS 437
BINDING OF N-RETINYLIDENE-PE TO ABCA4 AND A MODEL FOR ITS TRANSPORT ACROSS MEMBRANES 447
THE CHAPERONE FUNCTION OF THE LCA PROTEIN AIPL1 453
CRALBP LIGAND AND PROTEIN INTERACTIONS 459
FUNCTIONAL STUDY OF PHOTORECEPTOR PDEd 466
LOCALIZATION OF THE INSULIN RECEPTOR AND PHOSPHOINOSITIDE 3- KINASE IN DETERGENT- RESISTANT MEMBRANE RAFTS OF ROD PHOTORECEPTOR OUTER SEGMENTS 472
MERTK ACTIVATION DURING RPE PHAGOCYTOSIS IN VIVO REQUIRES aVb5 INTEGRIN 479
PHOTORECEPTOR RETINOL DEHYDROGENASES 484
PIGMENT EPITHELIUM-DERIVED GROWTH FACTOR INHIBITS FETAL BOVINE SERUM STIMULATED VASCULAR ENDOTHELIAL GROWTH FACTOR SYNTHESIS IN CULTURED HUMAN RETINAL PIGMENT EPITHELIAL CELLS 491
THE RETINAL PIGMENT EPITHELIUM APICAL MICROVILLI AND RETINAL FUNCTION 497
UPREGULATION OF TRANSGLUTAMINASE IN THE GOLDFISH RETINA DURING OPTIC NERVE REGENERATION 503
SURVIVAL SIGNALING IN RETINAL PIGMENT EPITHELIAL CELLS IN RESPONSE TO OXIDATIVE STRESS: SIGNIFICANCE IN RETINAL DEGENERATIONS 509
INDEX 519