Retinal Degenerative Diseases: Mechanisms and Experimental Therapy


This book will contain the proceedings of the XV International Symposium on Retinal Degeneration (RD2012). A majority of those who will speak and present posters at the meeting will contribute to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium will focus on the exciting new developments aimed at ...

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This book will contain the proceedings of the XV International Symposium on Retinal Degeneration (RD2012). A majority of those who will speak and present posters at the meeting will contribute to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the "best" and "most important" meetings in the field. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2010. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It shou

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Table of Contents

1 Genetic factors modifying clinical expression of autosomal dominant RP
2 Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis : rod-derived cone viability variants in LCA
3 Leber congenital amaurosis : survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis : clinical and molecular survey in LCA 15
4 A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22
5 RCC1-like domain and ORF15 : essentials in RPGR gene 29
6 Choroidal neovascularization in patients with adult-onset foveomacular dystrophy caused by mutations in the RDS/peripherin gene
7 Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration : a genetic model of age-related macular degeneration 41
8 Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations 49
9 Fundus appearance of choroideremia using optical coherence tomography
10 A2E, a fluorophore of RPE lipofuscin, can destabilie membrane 63
11 Amino-retinoid compounds in the human retinal pigment epithelium 69
12 Annexins in Bruch's membrane and drusen 75
13 Molecular mechanisms of photoreceptor degeneration in RP caused by IMPDH1 mutations 81
14 Biochemical function of the LCA linked protein, aryl hydrocarbon receptor interacting protein like-1 (AIPL1) : role of AIPL1 in retina 89
15 Characterization of mouse mutants with abnormal RPE cells
16 Rod and cone pigment regeneration in RPE65[superscript -/-] mice 101
17 Initial observations of key features of age-related macular degeneration in apoe targeted replacement mice 109
18 Altered rhythm of photoreceptor outer segment phagocytosis in [beta]5 integrin knockout mice 119
19 Light/dark translocation of alphatransducin in mouse photoreceptor cells expressing G90D mutant opsin 125
20 Slowed photoresponse recovery and age-related degeneration in cones lacking G protein-coupled receptor kinase 1 133
21 Transgenic animal studies of human retina disease caused by mutations in peripherin/RDS 141
22 Transgenic expression of leukemia inhibitory factor inhibits both rod and cone gene expression : Gp130 regulates cone gene expression 147
23 A role for BHLH transcription factors in retinal degeneration and dysfunction 155
24 Characterisation of a model for retinal neovascularisation : VEGF model characterisation 163
25 A two-alternative forced choice method for assessing mouse vision 169
26 Conditional gene knockout system in cone photoreceptors 173
27 Regulation of tight junction proteins in cultured retinal pigment epithelial cells and in VEGF overexpressing transgenic mouse retinas 179
28 Pathological heterogeneity of vasoproliferative retinopathy in transgenic mice overexpressing vascular endothelial growth factor in photoreceptors 187
29 Laser photocoagulation : ocular research and therapy in diabetic retinopathy 195
30 Applying transgenic zebrafish technology to study the retina 201
31 BMI1 loss delays photoreceptor degeneration in RD1 mice : Bmi1 loss and neuroprotection in Rd1 mice 209
32 Transcriptional and post-transcriptional regulation of the rod cGMP-phosphodiesterase [beta]-subunit gene : recent advances and current concepts 217
33 Down-regulation of rhodopsin gene expression by AAV-vectored short interfering RNA 233
34 Assessing the efficacy of gene therapy in Rpe65[superscript -/-] mice using photoentrainment of Circadian rhythm
35 Lentiviral vectors containing a retinal pigment epithelium specific promoter for leber congenital amaurosis gene therapy : lentiviral gene therapy for LCA
36 Gene delivery to the retina using lentiviral vectors 255
37 Potential use of cellular promoter(s) to target RPE in AAV-mediated delivery : cellular promoters and RPE-targeting 267
38 Cytokine-induce retinal degeneration : role of suppressors of cytokine signaling (SOCS) proteins in protection of the neuroretina 275
39 Disease mechanisms and gene therapy in a mouse model for X-linked retinoschisis
40 Molecular mechanisms of neuroprotection in the eye 291
41 Retinal damage caused by photodynamic therapy can be reduced using BDNF 297
42 Controlling vascular endothelial growth factor : therapies for ocular diseases associated with neovascularization 303
43 Intravitreal injection of triamcinolone acetonide for macular edema due to retinitis pigmentosa and other retinal diseases 309
44 Cone survival : identification of RdCVF 315
45 Neuroprotection of photoreceptors in the RCS rat after implantation of a subretinal implant in the superior or inferior retina 321
46 Glutamate transport modulation : a possible role in retinal neuroprotection 327
47 Activation of cell survival signals in the goldfish retinal ganglion cells after optic nerve injury 333
48 Roles and interactions of usher 1 proteins in the outer retina 341
49 Molecular analysis of the supramolecular usher protein complex in the retina : harmonin as the key protein of the usher syndrome 349
50 Limited neural differentiation of retinal pigment epithelium 357
51 Retinal pigment epithelial cells from thermally responsive polymer-grafted surface reduce apoptosis 363
52 Retinal transplantation : a treatment strategy for retinal degenerative disease 367
53 Microarray analysis revelas retinal stem cell characteristics of the adult human eye : for contribution volumes 377
54 Using stem cells to repair the degenerate retina : stem cells in the context of retinal degenerations 381
55 Optic nerve regeneration : molecular pre-requisites and the role of training : restoring vision after optic nerve injury 389
56 Retinal ganglion cell remodelling in experimental glaucoma 397
57 Neural plasticity revealed by light-induced photoreceptor lesions 405
58 Factors underlying circadian dependent susceptibility to light induced retinal damage 411
59 Space flight environment induces degeneration in the retina of rat neonates 417
60 Toxicity of hyperoxia to the retina : evidence from the mouse 425
61 Treatment with carbonic anhydrase inhibitors depresses electroretinogram responsiveness in mice 439
62 Injury-induced retinal ganglion cell loss in the neonatal rat retina 447
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