retinal degeneration

Summary

Summary: A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)

Top Publications

  1. pmc Safety and efficacy of gene transfer for Leber's congenital amaurosis
    Albert M Maguire
    Scheie Eye Institute, University of Pennsylvania, USA
    N Engl J Med 358:2240-8. 2008
  2. pmc Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 110:E517-25. 2013
  3. ncbi Retinal repair by transplantation of photoreceptor precursors
    R E MacLaren
    Division of Molecular Therapy, University College London Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Nature 444:203-7. 2006
  4. pmc ER stress in retinal degeneration in S334ter Rho rats
    Vishal M Shinde
    Department of Cell Biology and Anatomy, University of North Texas Health Science Center, North Texas Eye Research Institute, Fort Worth, Texas, United States of America
    PLoS ONE 7:e33266. 2012
  5. pmc Differential modulation of retinal degeneration by Ccl2 and Cx3cr1 chemokine signalling
    Ulrich F O Luhmann
    Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom
    PLoS ONE 7:e35551. 2012
  6. pmc In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 15:1847-57. 2006
  7. pmc A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
    Hemant Khanna
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA
    Nat Genet 41:739-45. 2009
  8. ncbi Diminished pupillary light reflex at high irradiances in melanopsin-knockout mice
    R J Lucas
    Department of Integrative and Molecular Neuroscience, Division of Neuroscience and Psychological Medicine, Faculty of Medicine, Imperial College London, Charing Cross Campus, St Dunstans Road, London W6 8RF, UK
    Science 299:245-7. 2003
  9. ncbi Effect of gene therapy on visual function in Leber's congenital amaurosis
    James W B Bainbridge
    Institute of Ophthalmology, University College London, London, United Kingdom
    N Engl J Med 358:2231-9. 2008
  10. ncbi Photoreceptor cell death mechanisms in inherited retinal degeneration
    Javier Sancho-Pelluz
    Institute for Ophthalmic Research, University of Tubingen, Centre for Ophthalmology, Röntgenweg 11, 72076, Tubingen, Germany
    Mol Neurobiol 38:253-69. 2008

Detail Information

Publications386 found, 100 shown here

  1. pmc Safety and efficacy of gene transfer for Leber's congenital amaurosis
    Albert M Maguire
    Scheie Eye Institute, University of Pennsylvania, USA
    N Engl J Med 358:2240-8. 2008
    ..Although the follow-up was very short and normal vision was not achieved, this study provides the basis for further gene therapy studies in patients with LCA...
  2. pmc Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 110:E517-25. 2013
    ..We evaluated the consequences of gene therapy on retinal degeneration in patients with RPE65-LCA and its canine model...
  3. ncbi Retinal repair by transplantation of photoreceptor precursors
    R E MacLaren
    Division of Molecular Therapy, University College London Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    Nature 444:203-7. 2006
    ..These findings define the ontogenetic stage of donor cells for successful rod photoreceptor transplantation...
  4. pmc ER stress in retinal degeneration in S334ter Rho rats
    Vishal M Shinde
    Department of Cell Biology and Anatomy, University of North Texas Health Science Center, North Texas Eye Research Institute, Fort Worth, Texas, United States of America
    PLoS ONE 7:e33266. 2012
    ..Therefore, two major cross-talking pathways, the UPR and mitochondrial MPTP occur in S334ter-4 Rho retina concomitantly and eventually promote the death of the photoreceptor cells...
  5. pmc Differential modulation of retinal degeneration by Ccl2 and Cx3cr1 chemokine signalling
    Ulrich F O Luhmann
    Department of Genetics, UCL Institute of Ophthalmology, London, United Kingdom
    PLoS ONE 7:e35551. 2012
    Microglia and macrophages are recruited to sites of retinal degeneration where local cytokines and chemokines determine protective or neurotoxic microglia responses...
  6. pmc In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 15:1847-57. 2006
    ..an in-frame deletion in a novel centrosomal protein CEP290 (also called NPHP6), leading to early-onset retinal degeneration in a newly identified mouse mutant, rd16...
  7. pmc A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
    Hemant Khanna
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan, USA
    Nat Genet 41:739-45. 2009
    ..gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes...
  8. ncbi Diminished pupillary light reflex at high irradiances in melanopsin-knockout mice
    R J Lucas
    Department of Integrative and Molecular Neuroscience, Division of Neuroscience and Psychological Medicine, Faculty of Medicine, Imperial College London, Charing Cross Campus, St Dunstans Road, London W6 8RF, UK
    Science 299:245-7. 2003
    ....
  9. ncbi Effect of gene therapy on visual function in Leber's congenital amaurosis
    James W B Bainbridge
    Institute of Ophthalmology, University College London, London, United Kingdom
    N Engl J Med 358:2231-9. 2008
    ..These findings provide support for further clinical studies of this experimental approach in other patients with mutant RPE65. (ClinicalTrials.gov number, NCT00643747 [ClinicalTrials.gov].)...
  10. ncbi Photoreceptor cell death mechanisms in inherited retinal degeneration
    Javier Sancho-Pelluz
    Institute for Ophthalmic Research, University of Tubingen, Centre for Ophthalmology, Röntgenweg 11, 72076, Tubingen, Germany
    Mol Neurobiol 38:253-69. 2008
    ..This review briefly describes some animal models used for studies of retinal degeneration, with particular focus on the rd1 mouse...
  11. ncbi Retinal degeneration mutants in the mouse
    B Chang
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, USA
    Vision Res 42:517-25. 2002
    ..Mouse models of retinal degeneration have been investigated for many years in the hope of understanding the causes of photoreceptor cell death...
  12. pmc Unfolded protein response in a Drosophila model for retinal degeneration
    Hyung Don Ryoo
    Department of Cell Biology, NYU School of Medicine, New York, NY 10021, USA
    EMBO J 26:242-52. 2007
    ..model for autosomal dominant retinitis pigmentosa (ADRP), and reduction of xbp1 gene dosage accelerates retinal degeneration of these animals...
  13. ncbi The cell stress machinery and retinal degeneration
    Dimitra Athanasiou
    UCL Institute of Ophthalmology, 11 43 Bath Street, London EC1V 9EL, UK
    FEBS Lett 587:2008-17. 2013
    ..Understanding the mechanisms that maintain and re-establish proteostasis in the retina is important for developing new therapeutic approaches to fight blindness...
  14. pmc Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma
    Gareth R Howell
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    J Cell Biol 179:1523-37. 2007
    ..These experiments provide strong evidence for a local insult to axons in the optic nerve...
  15. pmc Retinal light damage: mechanisms and protection
    Daniel T Organisciak
    Department of Biochemistry and Molecular Biology, Boonshoft School of Medicine, Wright State University, Dayton, OH 45435, USA
    Prog Retin Eye Res 29:113-34. 2010
    ....
  16. pmc Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants
    Paul A Sieving
    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 103:3896-901. 2006
    ..viable cells with minimal cell loss and gave CNTF output at levels previously shown to be therapeutic for retinal degeneration in rcd1 dogs...
  17. ncbi Activated microglia in human retinitis pigmentosa, late-onset retinal degeneration, and age-related macular degeneration
    Nisha Gupta
    Scheie Eye Institute, 51 North 39th Street, Philadelphia, PA 19104, USA
    Exp Eye Res 76:463-71. 2003
    ..leads to activation of resident microglia in human retinas with retinitis pigmentosa (RP), late-onset retinal degeneration (L-ORD), or age-related macular degeneration (AMD)...
  18. ncbi Molecular mechanisms of light-induced photoreceptor apoptosis and neuroprotection for retinal degeneration
    Andreas Wenzel
    Laboratory for Retinal Cell Biology, Department Ophthalmology, University Eye Clinic, University of Zurich, Frauenklinkstrasse 24, CH 8091 Zurich, Switzerland
    Prog Retin Eye Res 24:275-306. 2005
    ..many excellent reviews and the earlier work paving the way to our current knowledge and understanding of retinal degeneration, photoreceptor apoptosis and neuroprotection...
  19. pmc Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease
    Morag E Shanks
    Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
    Eur J Hum Genet 21:274-80. 2013
    Inherited retinal degeneration (IRD) is a common cause of visual impairment (prevalence ∼1/3500). There is considerable phenotype and genotype heterogeneity, making a specific diagnosis very difficult without molecular testing...
  20. pmc Spectral domain optical coherence tomography in mouse models of retinal degeneration
    Gesine Huber
    Division of Ocular Neurodegeneration, Institute for Ophthalmic Research, Centre for Ophthalmology, Tuebingen, Germany
    Invest Ophthalmol Vis Sci 50:5888-95. 2009
    ..Here, the authors report the efficacy of a commercially available SD-OCT device to study mouse models of retinal degeneration.
  21. ncbi CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
    Adrienne K Mehalow
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Hum Mol Genet 12:2179-89. 2003
    ..We have recently identified a mouse model, retinal degeneration 8 (rd8) with a single base deletion in the Crb1 gene...
  22. pmc Induction of endoplasmic reticulum stress genes, BiP and chop, in genetic and environmental models of retinal degeneration
    Heike Kroeger
    Department of Pathology, University of California, San Diego, La Jolla, California, USA
    Invest Ophthalmol Vis Sci 53:7590-9. 2012
    ..of tightly induced ER stress genes, Binding of immunoglobulin protein (BiP) and CCAAT/enhancer-binding protein homologous protein (Chop), in seven additional models of retinal degeneration arising from genetic or environmental causes.
  23. pmc Reversal of end-stage retinal degeneration and restoration of visual function by photoreceptor transplantation
    Mandeep S Singh
    Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, United Kingdom
    Proc Natl Acad Sci U S A 110:1101-6. 2013
    ..Rather than placing discrete photoreceptors among preexisting host outer retinal cells, total photoreceptor layer reconstruction may provide a clinically relevant model to investigate cell-based strategies for retinal repair...
  24. pmc Ectopic expression of a microbial-type rhodopsin restores visual responses in mice with photoreceptor degeneration
    Anding Bi
    Department of Anatomy and Cell Biology, Wayne State University School of Medicine, Detroit, Michigan 48201, USA
    Neuron 50:23-33. 2006
    ..Thus, expression of microbial-type channelrhodopsins, such as ChR2, in surviving inner retinal neurons is a potential strategy for the restoration of vision after rod and cone degeneration...
  25. ncbi Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
    P M D'Cruz
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Hum Mol Genet 9:645-51. 2000
    ..The Royal College of Surgeons (RCS) rat is a widely studied, classic model of recessively inherited retinal degeneration in which the RPE fails to phagocytose shed outer segments, and photoreceptor cells subsequently die...
  26. ncbi Leber congenital amaurosis: genes, proteins and disease mechanisms
    Anneke I den Hollander
    Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    Prog Retin Eye Res 27:391-419. 2008
    ..gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the cases...
  27. pmc Restoration of visual function in retinal degeneration mice by ectopic expression of melanopsin
    Bin Lin
    Massachusetts General Hospital, Harvard Medical School, Thier 429, 50 Blossom Street, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 105:16009-14. 2008
    ..For therapy in human photodegenerations, channelrhodopsin-2 and melanopsin have different advantages and disadvantages; both proteins (or modifications of them) should be candidates...
  28. pmc Retinal ganglion cells survive and maintain normal dendritic morphology in a mouse model of inherited photoreceptor degeneration
    Francesca Mazzoni
    Istituto di Neuroscienze Consiglio Nazionale delle Ricerche, 56100 Pisa, Italy
    J Neurosci 28:14282-92. 2008
    ....
  29. ncbi Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
    Alan F Wright
    MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh EH4 2XU, UK
    Nat Rev Genet 11:273-84. 2010
    ..The genetic and mechanistic causes of retinal degeneration due to PR cell death--which occurs in conditions such as retinitis pigmentosa and age-related macular ..
  30. ncbi Identification of sequential events and factors associated with microglial activation, migration, and cytotoxicity in retinal degeneration in rd mice
    Hui Yang Zeng
    Peking University Eye Centre, Peking University Third Hospital, Beijing, China
    Invest Ophthalmol Vis Sci 46:2992-9. 2005
    To elucidate the role of activated microglia in the photoreceptor apoptosis of rd mice by identifying sequential events and factors associated with microglial activation, migration, and cytotoxicity during retinal degeneration.
  31. pmc Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomography
    M Dominik Fischer
    Division of Ocular Neurodegeneration, Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
    PLoS ONE 4:e7507. 2009
    Optical coherence tomography (OCT) is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration.
  32. ncbi Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice
    G Q Chang
    Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina 27710
    Neuron 11:595-605. 1993
    Mutations in the retinal degeneration, retinal degeneration slow(/peripherin) and rhodopsin genes cause photoreceptor degeneration in humans and mice...
  33. ncbi Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    Jan Reiners
    Institute of Zoology, Department of Cell and Matrix Biology, Johannes Gutenberg University of Mainz, Müllerweg 6, D 55099 Mainz, Germany
    Exp Eye Res 83:97-119. 2006
    ....
  34. ncbi Neural remodeling in retinal degeneration
    Robert E Marc
    John A Moran Eye Center, Department of Ophthalmology, University of Utah School of Medicine, 50 N Medical Center, Salt Lake City, UT 84132, USA
    Prog Retin Eye Res 22:607-55. 2003
    ..However, survivor neurons appear to be stable, healthy, active cells and given the evidence of their reactivity to deafferentation, it may be possible to influence their emergent rewiring and migration habits...
  35. pmc Anti-inflammatory recombinant TSG-6 stabilizes the progression of focal retinal degeneration in a murine model
    Jingsheng Tuo
    Laboratory of Immunology, National Eye Institute, National Institutes of Health, Bethesda, MD, USA
    J Neuroinflammation 9:59. 2012
    ..In this study, we evaluated the effect of an intravitreous injection of recombinant TSG-6 on the retinal lesions of Ccl2-/-/Cx3cr1-/- mice...
  36. pmc ER stress is involved in T17M rhodopsin-induced retinal degeneration
    Mansi M Kunte
    Department of Cell Biology and Anatomy, University of North Texas Health Science Center, Fort Worth, Texas, USA
    Invest Ophthalmol Vis Sci 53:3792-800. 2012
    ..The goal of our study was to elucidate the role of endoplasmic reticulum (ER) stress in retinal degeneration in hT17M Rho mice and identify potential candidates for adRP gene therapy.
  37. pmc Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
    Robert K Koenekoop
    McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec, Canada
    Nat Genet 44:1035-9. 2012
    ..Our findings identify a new disease mechanism underlying LCA and provide the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder...
  38. pmc Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1
    Sabine Hüttl
    Department Pharmazie, Pharmakologie für Naturwissenschaften, Ludwig Maximilians Universitat Munchen, D 81377 Munchen, Germany
    J Neurosci 25:130-8. 2005
    ..Our results show that CNGB1 is a crucial determinant of native CNG channel targeting. As a result of the lack of rod CNG channels, CNGB1-/- mice develop a retinal degeneration that resembles human retinitis pigmentosa.
  39. ncbi Interleukin-1 attenuates normal tension glaucoma-like retinal degeneration in EAAC1-deficient mice
    Kazuhiko Namekata
    Department of Molecular Neurobiology, Tokyo Metropolitan Institute for Neuroscience, 2 6 Musashidai, Fuchu, Tokyo 183 8526, Japan
    Neurosci Lett 465:160-4. 2009
    ..Since the loss of GLAST or EAAC1 leads to retinal degeneration similar to that seen in NTG, we examined the effects of interleukin-1 (IL-1) on RGC death in GLAST- and ..
  40. ncbi Emergence of sustained spontaneous hyperactivity and temporary preservation of OFF responses in ganglion cells of the retinal degeneration (rd1) mouse
    Steven F Stasheff
    University of Iowa, 375 Newton Road, Iowa City, IA 52242, USA
    J Neurophysiol 99:1408-21. 2008
    ..Thus striking alterations occur in inner retinal physiology as retinal degeneration progresses in the rd1 mouse...
  41. pmc Characterization of multiple light damage paradigms reveals regional differences in photoreceptor loss
    Jennifer L Thomas
    Department of Anatomy and Cell Biology, Wayne State University School of Medicine, 501 E Canfield Ave, Detroit, MI 48201, USA
    Exp Eye Res 97:105-16. 2012
    ..There are currently two widely-used light-induced retinal degeneration models to damage photoreceptors in the adult zebrafish...
  42. pmc TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice
    Arlene V Drack
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242, USA
    Invest Ophthalmol Vis Sci 53:100-6. 2012
    To evaluate and compare the protective effect of tauroursodeoxycholic acid (TUDCA) on photoreceptor degeneration in different models of retinal degeneration (RD) in mice.
  43. ncbi Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
    C L Freund
    Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
    Cell 91:543-53. 1997
    Genes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of photoreceptors...
  44. pmc Identification of candidate genes for human retinal degeneration loci using differentially expressed genes from mouse photoreceptor dystrophy models
    Christina Demos
    Department of Physiology and Neuroscience, Medical University of South Carolina, Charleston, SC 29425, USA
    Mol Vis 14:1639-49. 2008
    b>Retinal degeneration (RD) is a complex mechanism that appears to involve many biologic processes including oxidative stress, apoptosis, and cellular remodeling. Currently there are 51 mapped, but not identified, RD human disease loci.
  45. pmc ER stress protects from retinal degeneration
    César S Mendes
    Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA
    EMBO J 28:1296-307. 2009
    ..We propose that an immediate consequence of the UPR not only limits the accumulation of misfolded proteins but also protects tissues from harmful exogenous stresses...
  46. pmc Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice
    Tatjana C Jakobs
    Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02114
    J Cell Biol 171:313-25. 2005
    ..However, the architecture of the mouse eye seems to preclude a commonly postulated source of mechanical damage within the nerve head...
  47. pmc Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa
    C Portera-Cailliau
    Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 9257
    Proc Natl Acad Sci U S A 91:974-8. 1994
    ..the hypothesis that photoreceptor cell death occurs by an apoptotic mechanism in three mouse models of RP: retinal degeneration slow (rds) caused by a peripherin mutation, retinal degeneration (rd) caused by a defect in cGMP ..
  48. ncbi The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders
    Alexa N Bramall
    Programs in Genetics and Developmental Biology, The Research Institute, The Hospital for Sick Children, Toronto M5G1L7, Canada
    Annu Rev Neurosci 33:441-72. 2010
    ..Finally, we report on potential pharmacologic and biologic therapies, the critical role of histopathology as a prerequisite to treatment, and the exciting promise of gene therapy in animal models and in phase 1 trials in humans...
  49. ncbi Mitochondrial DNA damage and its potential role in retinal degeneration
    Stuart G Jarrett
    Department of Molecular and Biomedical Pharmacology, College of Medicine, University of Kentucky, Lexington, KY, USA
    Prog Retin Eye Res 27:596-607. 2008
    ..deficits in mitochondrial DNA (mtDNA) repair pathways are important contributors to the pathogenesis of retinal degeneration. Specifically targeting mitochondria with pharmacological agents able to protect against oxidative stress ..
  50. ncbi Microglia activation in retinal degeneration
    Thomas Langmann
    Institute of Human Genetics, University of Regensburg, Franz Josef Strauss Allee 11, 93053 Regensburg, Germany
    J Leukoc Biol 81:1345-51. 2007
    ..healthy retina and discusses early signaling events and transcriptional networks of microglia activation in retinal degeneration. The characterization of activation pathways at the molecular level may lead to innovative, therapeutic ..
  51. pmc Amyloid-beta deposits lead to retinal degeneration in a mouse model of Alzheimer disease
    Allison Ning
    Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, BC, Canada
    Invest Ophthalmol Vis Sci 49:5136-43. 2008
    ..To compare the temporal and spatial expression patterns of amyloid precursor protein (APP), amyloid-beta deposits, inflammatory chemokines, and apoptosis in the retina of a mouse model of Alzheimer disease (AD)...
  52. pmc Modeling retinal degeneration using patient-specific induced pluripotent stem cells
    Zi Bing Jin
    Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan
    PLoS ONE 6:e17084. 2011
    ..Our results demonstrate that the use of patient-derived iPS cells will help to elucidate the pathogenic mechanisms caused by genetic mutations in RP...
  53. ncbi Multidestructive pathways triggered in photoreceptor cell death of the rd mouse as determined through gene expression profiling
    Baerbel Rohrer
    Departments of Ophthalmology, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    J Biol Chem 279:41903-10. 2004
    ..All of these components need to be addressed if rods are to be successfully protected...
  54. ncbi Multipotent retinal progenitors express developmental markers, differentiate into retinal neurons, and preserve light-mediated behavior
    Henry J Klassen
    Schepens Eye Research Institute, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 45:4167-73. 2004
    To use progenitor cells isolated from the neural retina for transplantation studies in mice with retinal degeneration.
  55. ncbi Phototransduction and retinal degeneration in Drosophila
    Tao Wang
    Department of Biological Chemistry, Center for Sensory Biology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Pflugers Arch 454:821-47. 2007
    ..Mutation of nearly any gene that functions in the photoresponse results in retinal degeneration. The underlying bases of photoreceptor cell death are diverse and involve mechanisms such as excessive ..
  56. ncbi In vivo three-dimensional high-resolution imaging of rodent retina with spectral-domain optical coherence tomography
    Marco Ruggeri
    Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, 1638 N W 10th Avenue, Miami, FL 33136, USA
    Invest Ophthalmol Vis Sci 48:1808-14. 2007
    ....
  57. ncbi The relationship between opsin overexpression and photoreceptor degeneration
    E Tan
    Department of Ophthalmology and Visual Sciences, College of Medicine, University of Illinois at Chicago, Chicago, IL, USA
    Invest Ophthalmol Vis Sci 42:589-600. 2001
    ..To characterize the process by which overexpression of normal opsin leads to photoreceptor degeneration...
  58. pmc Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments
    T Li
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114, USA
    Proc Natl Acad Sci U S A 93:14176-81. 1996
    ....
  59. ncbi The Crumbs complex: from epithelial-cell polarity to retinal degeneration
    Natalia A Bulgakova
    Max Planck Institute for Molecular Cell Biology and Genetics, Pfotenhauerstr 108, Dresden, Germany
    J Cell Sci 122:2587-96. 2009
    ..function is illustrated by the finding that mutations in one of its components, Crumbs, are associated with retinal degeneration in humans, mice and flies...
  60. ncbi Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase
    C Bowes
    Jules Stein Eye Institute, University of California, School of Medicine, Los Angeles 90024
    Nature 347:677-80. 1990
    Mice homozygous for the rd mutation display hereditary retinal degeneration and the classic rd lines serve as a model for human retinitis pigmentosa...
  61. ncbi Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice
    Dominique Helmlinger
    Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM ULP, B P 10142, 67404 Illkirch Cedex, CU de Strasbourg, France
    Hum Mol Genet 11:3351-9. 2002
    ..These two different polyQ mouse models exhibit comparable early and progressive retinal degeneration and dysfunction...
  62. ncbi Early postnatal enriched environment decreases retinal degeneration induced by monosodium glutamate treatment in rats
    Krisztina Szabadfi
    Department of Experimental Zoology and Neurobiology, Pecs, Hungary
    Brain Res 1259:107-12. 2009
    ..The aim of the present study was to investigate whether retinal degeneration induced by neonatal monosodium glutamate (MSG) in rats can be ameliorated by expanded cage size or enriched ..
  63. pmc Retinal light toxicity
    P N Youssef
    Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Science, Madison, WI 53792, USA
    Eye (Lond) 25:1-14. 2011
    ..The following review seeks to describe these various processes of injury and many of the variables, which can mitigate these modes of injury...
  64. ncbi Crocetin prevents retinal degeneration induced by oxidative and endoplasmic reticulum stresses via inhibition of caspase activity
    Mika Yamauchi
    Department of Biofunctional Evaluation, Molecular Pharmacology, Gifu Pharmaceutical University, 1 25 4 Daigaku nishi, Gifu 501 1196, Japan
    Eur J Pharmacol 650:110-9. 2011
    ..These results indicate that crocetin has protective effects against retinal damage in vitro and in vivo, suggesting that the mechanism may inhibit increase in caspase-3 and -9 activities after retinal damage...
  65. ncbi Characteristics of bone marrow-derived microglia in the normal and injured retina
    Hiroki Kaneko
    Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan
    Invest Ophthalmol Vis Sci 49:4162-8. 2008
    ..To compare the distribution and immunologic characteristics of bone marrow (BM)-derived and resident microglia in the retina...
  66. ncbi Paraquat-induced retinal degeneration is exaggerated in CX3CR1-deficient mice and is associated with increased retinal inflammation
    Mei Chen
    Centre for Vision and Vascular Science, School of Medicine, Dentistry and Biomedical Sciences, Queen s University Belfast, Northern Ireland, United Kingdom
    Invest Ophthalmol Vis Sci 54:682-90. 2013
    To investigate the role of the Fractalkine receptor CX3CR1 pathway in oxidative insults-mediated retinal degeneration and immune activation.
  67. ncbi Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
    N B Haider
    Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, USA
    Nat Genet 24:127-31. 2000
    ..occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. The altered ratio of S- to L/M-cone photoreceptor sensitivity in ESCS may be due to abnormal cone cell ..
  68. ncbi Studies of visual function and its decay in mice with hereditary retinal degeneration
    U C Drager
    J Comp Neurol 180:85-114. 1978
    Functional implications of mouse hereditary retinal degeneration have been studied at the level of the superior colliculus and visual cortex in the C57BL/6J-le rd strain...
  69. ncbi Microglia-Müller glia cell interactions control neurotrophic factor production during light-induced retinal degeneration
    Takayuki Harada
    Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8502
    J Neurosci 22:9228-36. 2002
    ..These observations suggest that microglia regulate the microglia-Müller glia-photoreceptor network that serves as a trophic factor-controlling system during retinal degeneration.
  70. pmc Small interfering RNA-mediated suppression of Ccl2 in Müller cells attenuates microglial recruitment and photoreceptor death following retinal degeneration
    Matt Rutar
    The John Curtin School of Medical Research, College of Medicine, Biology and Environment, The Australian National University, Building 131, Garran Rd, Canberra, ACT 0200, Australia
    J Neuroinflammation 9:221. 2012
    ..We investigated the role of Müller cell-derived chemokine (C-C motif) ligand (Ccl)2 expression on monocyte/microglia infiltration and photoreceptor death in light-mediated retinal degeneration, using targeted small interfering (si)RNA.
  71. pmc Ablation of C/EBP homologous protein does not protect T17M RHO mice from retinal degeneration
    Sonali Nashine
    Department of Cell Biology and Anatomy, University of North Texas Health Science Center, Fort Worth, Texas, United States of America
    PLoS ONE 8:e63205. 2013
    ..transgene, the expression of which in retina leads to protein misfolding, activation of UPR and progressive retinal degeneration. The purpose of this study is to investigate the role of CHOP protein in T17M RHO retina...
  72. ncbi Developmental mechanisms for retinal degeneration in the blind cavefish Astyanax mexicanus
    Alessandro Alunni
    MSNC INRA Group, Institut de Neurobiologie Alfred Fessard, Centre National de la Recherche Scientifique, 91198 Gif sur Yvette, France
    J Comp Neurol 505:221-33. 2007
    ..offer a unique opportunity to study the evolutionary changes in developmental mechanisms that lead to retinal degeneration. Previous data have shown the role of increased midline Sonic Hedgehog (Shh) signalling in cavefish eye ..
  73. ncbi Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration
    Stefanie Ebert
    Institute of Human Genetics, University of Regensburg, Regensburg, Germany
    J Neurochem 110:1863-75. 2009
    ..of activated microglia in the retinoschisin (Rs1h)-deficient (Rs1h(-/Y)) mouse model of inherited retinal degeneration. To visualize and isolate microglia, we crossed Rs1h(-/Y) animals with transgenic MacGreen mice, which ..
  74. ncbi Dendrimer-based targeted intravitreal therapy for sustained attenuation of neuroinflammation in retinal degeneration
    Raymond Iezzi
    Ligon Research Center of Vision, Wayne State University, Detroit, MI, USA
    Biomaterials 33:979-88. 2012
    ..PAMAM dendrimers selectively localize within activated outer retinal microglia in two rat models of retinal degeneration, but not in the retina of healthy controls...
  75. ncbi Functional remodeling of glutamate receptors by inner retinal neurons occurs from an early stage of retinal degeneration
    Jacqueline Chua
    Department of Optometry and Vision Science, University of Auckland, Private Bag 92010, Auckland, New Zealand
    J Comp Neurol 514:473-91. 2009
    ..cells and amacrine cells undergo selective remodeling of glutamate receptors during the early phases of retinal degeneration. These early neurochemical changes in the rd/rd mouse retina include the expression of aberrant functional ..
  76. ncbi A simple polymerase chain reaction assay for genotyping the retinal degeneration mutation (Pdeb(rd1)) in FVB/N-derived transgenic mice
    E Gimenez
    Departamento de Biologia Molecular y Celular, Centro Nacional de Biotecnologia, Madrid, Spain
    Lab Anim 35:153-6. 2001
    ..However, these inbred mice carry a retinal degeneration mutation caused by a proviral insertion into the Pdeb gene, encoding the beta subunit of cGMP ..
  77. ncbi Neuroprotective effects of naloxone against light-induced photoreceptor degeneration through inhibiting retinal microglial activation
    Ying qin Ni
    Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, People s Republic of China
    Invest Ophthalmol Vis Sci 49:2589-98. 2008
    ..To determine the role of microglial activation in light-induced photoreceptor degeneration and the neuroprotective effects of naloxone as a novel microglial inhibitor...
  78. ncbi Late histological and functional changes in the P23H rat retina after photoreceptor loss
    Bogdan Kolomiets
    INSERM, UMR_S968, Institut de la Vision, F 75012, Paris
    Neurobiol Dis 38:47-58. 2010
    ....
  79. pmc RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells
    Seifollah Azadi
    Department of Biochemistry and Molecular Biology, Centre for Macular Research, University of British Columbia, Vancouver, BC, Canada
    Proc Natl Acad Sci U S A 107:21158-63. 2010
    ..The resulting deficiency in cGMP synthesis and the constitutive closure of cGMP-gated channels might cause a reduction in intracellular Ca(2+) to a level below that required for long-term photoreceptor cell survival...
  80. pmc Characterization of Wnt signaling during photoreceptor degeneration
    Hyun Yi
    Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, FL 33136, USA
    Invest Ophthalmol Vis Sci 48:5733-41. 2007
    ..In this study, the authors investigated the role of Wnt signaling in retinal degeneration.
  81. ncbi Analysis of complement expression in light-induced retinal degeneration: synthesis and deposition of C3 by microglia/macrophages is associated with focal photoreceptor degeneration
    Matt Rutar
    Research School of Biology, The Australian National University, Canberra, Australian Capital Territory, Australia
    Invest Ophthalmol Vis Sci 52:5347-58. 2011
    To investigate the expression and localization of complement system mRNA and protein in a light-induced model of progressive retinal degeneration.
  82. pmc POD nanoparticles expressing GDNF provide structural and functional rescue of light-induced retinal degeneration in an adult mouse
    Sarah P Read
    Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts 02111, USA
    Mol Ther 18:1917-26. 2010
    ..control nanoparticles, or buffer were injected into the subretinal space of adult murine retina and retinal degeneration induced by blue light. Animals injected with PEG-POD~GDNF showed a significant reduction (3.9-7...
  83. pmc Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice
    Zai Long Chi
    National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan
    Hum Mol Genet 19:2606-15. 2010
    ..Wt Optn and an active GTP-bound form of Rab8 complex were localized at the Golgi complex. These data suggest that alternation of the Optn sequence can initiate significant retinal degeneration in mice.
  84. pmc Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration
    Vikas B Palhan
    Laboratories of Biochemistry and Molecular Biology and Mass Spectrometry and Gaseous Ion Chemistry, The Rockefeller University, New York, NY 10021, USA
    Proc Natl Acad Sci U S A 102:8472-7. 2005
    Spinocerebellar ataxia type 7 (SCA7) is characterized by cone-rod dystrophy retinal degeneration and is caused by a polyglutamine [poly(Q)] expansion within ataxin-7, a protein of previously unknown function...
  85. ncbi Retinal remodeling triggered by photoreceptor degenerations
    Bryan W Jones
    John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132
    J Comp Neurol 464:1-16. 2003
    ..By screening mature natural, transgenic, and knockout retinal degeneration models with computational molecular phenotyping, we have found an extended late phase of negative ..
  86. ncbi Protection of mouse photoreceptors by survival factors in retinal degenerations
    M M LaVail
    Department of Anatomy, University of California, San Francisco 94143 0730, USA
    Invest Ophthalmol Vis Sci 39:592-602. 1998
    ..photoreceptors in mutant mice with naturally occurring inherited retinal degenerations, including retinal degeneration (rd/rd), retinal degeneration slow (rds/rds), nervous (nr/nr), and Purkinje cell degeneration (pcd/pcd), in ..
  87. pmc Retinal degeneration and failure of photoreceptor outer segment formation in mice with targeted deletion of the Joubert syndrome gene, Ahi1
    Jennifer E Westfall
    Department of Biology, Center for Biotechnology and Interdisciplinary Studies, Rensselaer Polytechnic Institute, Troy, New York 12180, USA
    J Neurosci 30:8759-68. 2010
    ..The retinal degeneration observed in Ahi1(-/-) mice recapitulates aspects of the retinal phenotype observed in patients with JBTS ..
  88. doi Rare earth nanoparticles prevent retinal degeneration induced by intracellular peroxides
    Junping Chen
    Oklahoma Center for Neuroscience, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    Nat Nanotechnol 1:142-50. 2006
    ..The use of nanoceria particles as a direct therapy for multiple diseases represents a novel strategy and suggests that they may represent a unique platform technology...
  89. pmc TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
    Christina F Chakarova
    Institute of Ophthalmology, UCL, London EC1V 9EL, UK
    Hum Mol Genet 20:975-87. 2011
    ..protein TOPORS (topoisomerase I-binding arginine/serine rich) are associated with autosomal dominant retinal degeneration. However, the precise localization and a functional role of TOPORS in the retina remain unknown...
  90. pmc Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
    Yien Ming Kuo
    Department of Medicine, University of California, San Francisco, CA 94143, USA
    Hum Mol Genet 14:49-57. 2005
    ..Over time, the homozygous null mice manifest retinal degeneration, as evidenced by electroretinography, light microscopy and pupillometry response...
  91. pmc AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
    Carrie M Louie
    Howard Hughes Medical Institute, Department of Pediatrics, University of California, San Diego, La Jolla, USA
    Nat Genet 42:175-80. 2010
    ..cilium-localized protein, have been shown to cause a form of Joubert syndrome that is highly penetrant for retinal degeneration. We show that Ahi1-null mice fail to form retinal outer segments and have abnormal distribution of opsin ..
  92. pmc Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene
    B Chang
    The Jackson Laboratory, Bar Harbor, ME, USA
    Vision Res 47:624-33. 2007
    ..ophthalmic appearance, histology, and functional analysis of two new hereditary mouse models of retinal degeneration not having the Pde6brd1("r", "rd", or "rodless") mutation...
  93. ncbi Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration
    C Grimm
    Laboratory of Retinal Cell Biology, Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland
    Nat Genet 25:63-6. 2000
    Light-induced apoptosis of photoreceptors represents an animal model for retinal degeneration. Major human diseases that affect vision, such as age-related macular degeneration (AMD) and some forms of retinitis pigmentosa (RP), may be ..
  94. ncbi Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa
    Beatrice M Tam
    Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, Canada
    Invest Ophthalmol Vis Sci 47:3234-41. 2006
    To investigate the pathogenic mechanisms that underlie retinal degeneration induced by the rhodopsin mutation P23H in a Xenopus laevis model of RP.
  95. pmc Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies
    M M Sohocki
    Human Genetics Center, School of Public Health, University of Texas Houston Health Science Center, Houston, Texas, USA
    Hum Mutat 17:42-51. 2001
    ..These data are useful in estimating the frequency of specific mutations and in selecting individuals and families for mutation-specific studies...
  96. ncbi Retinal neurodegeneration in the DBA/2J mouse-a model for ocular hypertension
    Frank Schuettauf
    Experimental Ophthalmology, University Eye Hospital, Roentgenweg 11, 72076, Tuebingen, Germany
    Acta Neuropathol 107:352-8. 2004
    ..Photoreceptor cells were not affected at any age. Our observations suggest that retinal degeneration in the DBA/2J mice does not involve recruitment of blood-borne inflammatory/phagocytosing cells, and that ..
  97. pmc Double homozygous waltzer and Ames waltzer mice provide no evidence of retinal degeneration
    Zubair M Ahmed
    National Institute on Deafness and Other Communication Disorders, NIH, Rockville, MD 20850, USA
    Mol Vis 14:2227-36. 2008
    ..Does homozygosity for both v and av mutant alleles (i.e., a double homozygous mouse) cause retinal degeneration or an obvious retinal histopathology?
  98. ncbi Leukemia inhibitory factor extends the lifespan of injured photoreceptors in vivo
    Sandrine Joly
    Laboratory for Retinal Cell Biology, Department of Ophthalmology, Center for Integrative Human Physiology and Neuroscience Center Zurich, University of Zurich, 8091 Zurich, Switzerland
    J Neurosci 28:13765-74. 2008
    ..We show in two models of retinal degeneration that photoreceptor death strongly induces expression of leukemia inhibitory factor (LIF) in a subset of ..
  99. pmc Paradoxical role of BDNF: BDNF+/- retinas are protected against light damage-mediated stress
    R Brooks Wilson
    Department of Ophthalmology, Medical University of South Carolina, Charleston, South Carolina 29425, USA
    Invest Ophthalmol Vis Sci 48:2877-86. 2007
    ..The authors hypothesized that retinas with reduced BDNF levels in which the BDNF-mediated release of neuroprotective signals is dampened are more susceptible to light-induced photoreceptor degeneration...
  100. ncbi Autophagy-dependent rhodopsin degradation prevents retinal degeneration in Drosophila
    Ryosuke Midorikawa
    Research Group of Glycobiology and Glycotechnology, Mutant Flies Laboratory, Mitsubishi Kagaku Institute of Life Sciences, Machida 194 8511, Japan
    J Neurosci 30:10703-19. 2010
    ..neurodegenerative disorders, including the polyglutamine diseases; however, the role of autophagy in retinal degeneration has remained unclear...
  101. ncbi Identification of gene expression changes associated with the progression of retinal degeneration in the rd1 mouse
    Abigail S Hackam
    Guerrieri Center for Genetic Engineering and Molecular Ophthalmology at the Wilmer Eye Institute, John Hopkins University School of Medicine, Baltimore MD 21287, USA
    Invest Ophthalmol Vis Sci 45:2929-42. 2004
    ..In the present study, a custom retinal microarray was developed to analyze the rd1 mouse, a well-characterized animal model of human retinal degeneration.

Research Grants73

  1. PHYSIOLOGY AND PATHOPHYSIOLOGY OF PHOTORECEPTORS
    TIMOTHY KRAFT; Fiscal Year: 2002
    b>Retinal degeneration is a major cause of blindness in our elderly population as well as the tens of thousands of younger Americans afflicted with inherited retinal degenerations such as retinitis pigmentosa (RP)...
  2. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2013
    ..Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Best Disease, Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) Patients Number: 11-EI-0245 Summary: Background: - Best ..
  3. STATISITICAL DESIGN, MONITORING &COORD. OF VISION CLINICAL TRIALS &EPIDEMIOLOGY
    Keri Hammel; Fiscal Year: 2012
    ..Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Best Disease, Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) Patients Number: 11-EI-0245 Summary: Background: - Best ..
  4. NIEHS SUPPORT OF THE AHS COHORT STUDY AT NCI
    Charles Knott; Fiscal Year: 2010
    ..Results are expected in 2014. In a case-control study nested with the Agricultural Health Study, retinal degeneration was significantly associated with exposure to fungicides and selected insecticides, further analyses are ..
  5. THE AGRICULTURAL HEALTH STUDY - FIELD STATIONS
    Charles Lynch; Fiscal Year: 2010
    ..Results are expected in 2014. In a case-control study nested with the Agricultural Health Study, retinal degeneration was significantly associated with exposure to fungicides and selected insecticides, further analyses are ..
  6. Therapeutic Effect of a Novel Antioxidant on Degenerative Eye Disorders
    Nuran Ercal; Fiscal Year: 2012
    ..of a new thiol antioxidant, N- acetylcysteine amide (NACA), in preventing and treating cataracts and retinal degeneration in relevant animal models...
  7. Ceramide Metabolism and Photoreceptor Homeostasis
    Usha R Acharya; Fiscal Year: 2013
    ..regulators of Drosophila photoreceptor structure, function, and modulation of this pathway can suppress retinal degeneration in a set of phototransduction mutants...
  8. Prevention of Inherited Retinal Diseases by Therapeutic Rare Earth Nanoparticles
    JAMES FRANCIS MCGINNIS; Fiscal Year: 2010
    ..are now almost 200 genes and chromosomal loci which have been identified as causing some form of inherited retinal degeneration. Irrespective of the primary mutation or cause, all of these diseases are thought to share a major common ..
  9. Identifying all Meckel-like ciliopathy genes by established total exome capture a
    Friedhelm Hildebrandt; Fiscal Year: 2010
    ..Retinal-renal ciliopathies cause kidney failure, retinal degeneration, liver fibrosis, mental retardation and malformations of brain, bone and heart...
  10. The Mucolipin TRP Ion Channels
    Haoxing Xu; Fiscal Year: 2013
    ..ML4 patients exhibit motor defects, mental retardation, retinal degeneration, and iron-deficiency anemia...
  11. A Ribozyme Rescue Strategy for Dry Age-Related Macular Degeneration
    John M Sullivan; Fiscal Year: 2013
    ..by hhRzs/shRNAs, the expected outcome is that reduction of these targets will rescue A2E/RetDi-mediated retinal degeneration in the mouse model, at the expense of slight scotopic sensitivity loss (<-0...
  12. Prevention of Retinal Degeneration by Crystallins in Experimental Uveitis
    Narsing A Rao; Fiscal Year: 2011
    ..PUBLIC HEALTH RELEVANCE AlphaA crystallin is a unique protein present in the eye and other tissues. Lack of this protein can cause blindness, and supplement of this protein can prevent several blinding diseases. ..
  13. Mitochondrial Oxidative Stress in the Retinal Pigment Epithelium as a Model for A
    Alfred S Lewin; Fiscal Year: 2013
    ..We plan 3 sets of experiments: (1) We will monitor the time course of retinal degeneration in real time in living mice using electrophysiology (ERG), high resolution structural analysis (SD-OCT) and ..
  14. Novel genetics, pathobiology &therapy of nephronophthisis-related ciliopathies
    Friedhelm Hildebrandt; Fiscal Year: 2013
    ..It can be associated with progressive blindness (retinal degeneration), liver fibrosis, mental retardation and malformations of brain, heart and bone...
  15. Role of ciliary proteins in endothelial cells morphogenesis
    Carlo Iomini; Fiscal Year: 2010
    ..in development and disease, including polycystic kidney disease, hydrocephalus, syndromic obesity, and retinal degeneration. A prominent feature of mice carrying mutations in ciliary genes is the insurgency of lethal cardiovascular ..
  16. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012
    Project Summary Retinitis pigmentosa (RP) is a form of inherited retinal degeneration that is characterized by the progressive loss of photoreceptor cells (rods and cones) of the retina...
  17. Vision Sciences Training Grant
    Carol A Mason; Fiscal Year: 2013
    ..18 faculty in the Department of Ophthalmology, Biochemistry, Medicine, Pediatrics and Chemistry, who study retinal degeneration, retinoid processing, and the genetics, diagnostics and therapy of retinal disorders, with a focus on ..
  18. Mechanisms of assembly of photoreceptor G protein complexes
    Barry M Willardson; Fiscal Year: 2013
    ..BBS is a genetic disease of ciliary dysfunction displaying multiple pathological conditions including retinal degeneration. Mutations in 14 BBS proteins have been associated with the disease...
  19. Screen for Small Molecule Regulators of Retinal Progenitor Epithelial Cell Phagoc
    CHARLES YOON HYUNG CHO; Fiscal Year: 2010
    ..in a decrease in phagocytic activity providing a cellular phenocopy of a core cell biological event in RP retinal degeneration. This assay has been adapted to 384 well format and successfully quantitated using high content imaging and ..
  20. Serotonin Receptor Modulation of Neurotrophic Factors in the Retina
    Mark E Pennesi; Fiscal Year: 2013
    ..The principal investigator, Mark Pennesi, MD/PhD, has a long-standing interest in studying retinal degeneration. As a newly appointed Assistant Professor at the Casey Eye Institute, he is pursuing a career path as a ..
  21. USHERIN: STRUCTURAL AND FUNCTIONAL ANALYSIS
    DOMINIC E COSGROVE; Fiscal Year: 2012
    ..None of the usher mouse models develop retinal degeneration, which has hampered progress in understanding RP associated with Usher syndrome...
  22. Expression control in Drosophila splicing assembly factor RNP-4F
    JACK VAUGHN; Fiscal Year: 2010
    ..is retinitis pigmentosa (RP), affecting 1 in 4000 individuals, being characterized by progressive retinal degeneration and eventually total blindness...
  23. CELLULAR MECHANISMS OF INHERITED RETINAL DEGENERATION
    Matthew M Lavail; Fiscal Year: 2013
    ..abstract_text> ..
  24. Regulation of TRP channels and visual transduction
    Craig Montell; Fiscal Year: 2013
    ..kidney disease, and mucolipidosis type IV, which causes severe neurodegeneration, mental retardation and retinal degeneration. Given that the molecular mechanisms underlying the activation of these human TRPs are poorly understood, ..
  25. Unfolded Protein Response as a Therapeutic Target for ADRP Animal Models
    Marina Gorbatyuk; Fiscal Year: 2013
    ..This approach may overcome the genetic diversity of this disease and reveal the pathways of cell death that lead from mutation to retinal degeneration.
  26. Pathophysiology and potential therapy for a childhood neurodegenerative disease
    Marquis T Walker; Fiscal Year: 2011
    ..typically at about 1-3 years of age and display severe motor function deficits, mental retardation and retinal degeneration. The defects in lysosomal activity in MLIV patients are not exclusive to the central nervous system (CNS), ..
  27. AAV vectors for retinal delivery in a mouse model of age-related retinopathy
    KATHARINE LIANG; Fiscal Year: 2013
    ..stress to the pathogenesis of retinal disease, and the therapeutic potential of AAV-Nrf2 for treatment of retinal degeneration. If funded, these studies will pioneer the development of novel AAV vectors for safe and effective retinal ..
  28. Phase 2 Study of High Dose DHA for the Treatment of X-Linked Retinitis Pigmentosa
    Dennis R Hoffman; Fiscal Year: 2013
    ..dose of the long-chain omega-3 polyunsaturated fatty acid DHA is beneficial in retarding the progressive retinal degeneration and associated loss of visual function in patients with XLRP...
  29. Mesenchymal Stem Cells for Treatment of Retinal Diseases
    Martin L Katz; Fiscal Year: 2011
    ..this therapeutic approach by evaluating the ability of appropriate MSCs implanted in the eye to prevent retinal degeneration associated with lysosomal enzyme deficiencies...
  30. Functional Characterization of the Chlamydomonas CEP290/Nephrocystin-6 Homologue
    Branch Craige; Fiscal Year: 2010
    ..with characteristics that have been linked to defects in cilia: cystic kidney disease or nephronophthisis, retinal degeneration and blindness, polydactyly, defects in the central nervous system, liver fibrosis, and in the case of BBS,..
  31. Novel Adeno-Associated Viral Therapy for X-linked Retinitis Pigmentosa
    James M Wilson; Fiscal Year: 2010
    ..in the mouse model of XLRP, the RPGR knockout mouse, to determine which is the most effective in preventing retinal degeneration. When the optimal cDNA is selected, the promoter will then be optimized, testing both a constitutive (CMV) ..
  32. Sphingolipid Metabolism and Signaling in the Retina
    Md Nawajes A Mandal; Fiscal Year: 2013
    ..Our preliminary data show ceramide levels are increased during retinal degeneration in several models of inherited and stress-induced retinal degeneration...
  33. Interphotoreceptor Matrix Based Cell Delivery Vehicle for Retinal Regeneration
    Rebecca L Carrier; Fiscal Year: 2012
    ..The cell delivery vehicles developed in this project could provide a feasible clinical treatment for retinal degeneration associated with a wide variety of diseases, including macular degeneration and retinopathy of prematurity...
  34. Characterization of purified myocilin: glaucoma as a protein misfolding disease
    Raquel L Lieberman; Fiscal Year: 2013
    ..treatment, and/or surgery medically manage the symptom of increased intraocular pressure observed prior to retinal degeneration and loss of visual field, but do not constitute a therapy...
  35. Neuroprotective agents for retinal diseases
    CHRIS LINDSEY; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Retinal degeneration can be triggered by environmental insults as well as genetic mutations...
  36. GENETIC DISSECTION OF PHOTOTRANSDUCTION
    Baruch Minke; Fiscal Year: 2011
    ..will be used to acquire insights on the involvement of pathological activation of mammalian TRP channels in retinal degeneration and glaucoma...
  37. Postdoc Training in Translational Research in Neural Injury and Neurodegeneration
    Marc A Dichter; Fiscal Year: 2010
    ..stroke;brain and spinal cord injury;Alzheimer's, Parkinson's and motor neuron diseases;epilepsy;retinal degeneration;depression;behavioral disorders;autism...
  38. The role of tumor suppressor Rb in horizontal neuron development
    Michael A Dyer; Fiscal Year: 2011
    ..addition, when cell cycle regulation becomes perturbed during retinogenesis it can lead to microphthalmia, retinal degeneration or retinoblastoma...
  39. Intraflagellar Transport Proteins in Mice
    Gregory J Pazour; Fiscal Year: 2013
    ..Less severe mutations cause pleiotropic phenotypes including cystic kidney disease and retinal degeneration, among others...
  40. Retinal Iron Homeostasis in Health and Disease
    Vadivel Ganapathy; Fiscal Year: 2013
    ..It is known however, that excessive iron accumulation in the retina causes oxidative damage and retinal degeneration. Studies proposed in this project will investigate the HHC-associated changes in the iron status, structure,..
  41. INTRAFLAGELLAR TRANSPORT IN CHLAMYDOMONAS REINHARDTII
    DOUGLAS COLE; Fiscal Year: 2009
    ..defects in cilia and flagella have been intimately linked with a number of human diseases including retinal degeneration, immotilie cilia and Kartagener's syndromes, male and female infertility, hydrocephalus and anosmia, ..
  42. Retinal iron transport in health and disease
    Joshua L Dunaief; Fiscal Year: 2013
    ..Iron toxicity is evident in retinal disease as follows: 1) Iron causes rapid retinal degeneration following entry into the eye carried by an intraocular foreign body...
  43. Role of Caveolin-1 in the Maintenance of Blood-retinal Barrier Integrity
    Michael H Elliott; Fiscal Year: 2013
    ..the normal photoreceptor environment which is consistent with reduced retinal function and age-related retinal degeneration observed in these mice...
  44. Treatment of a Complex Retinal Degenerative Syndrome
    Val C Sheffield; Fiscal Year: 2013
    ..The retinal degeneration of BBS is early onset and typically leads to blindness in the second decade of life...
  45. MOLECULAR STUDIES OF RETINAL DEGENERATION IN DROSOPHILA
    Nansi J Colley; Fiscal Year: 2013
    ..knowledge of Drosophila genetics, combine to make Drosophila a powerful animal model for studying inherited retinal degeneration disorders...
  46. RPE MESSENGERS, TRANSCRIPTION AND PHOTORECEPTOR RENEWAL
    NICOLAS GUILLERMO BAZAN; Fiscal Year: 2013
    ..Specific Aim 4: To test the hypothesis that NPD1 signaling ameliorates experimental retinal degeneration. Scientific Impact: Five years from today we will know the manner by which NPD1 signaling mechanisms ..
  47. Neuronal Cell Cycle and Survival
    Nicholas E Baker; Fiscal Year: 2013
    ..expected to guide approaches to reduce proliferation of retinoblastoma, to minimize neuronal loss in some retinal degeneration, and possibly to reduce neuronal loss in other neurodegenerative conditions such as Alzheimer's ..
  48. Regulation of Drosophila arrestins in light adaptation
    Bih Hwa Shieh; Fiscal Year: 2012
    ..visual arrestins may present a tangible drug target for future pharmacological intervention to prevent retinal degeneration and to enhance visual acuity...
  49. Acquisition of a Leica TCS SP5 Confocal Microscope For A Multi-User Facility
    Patricia A Conrad; Fiscal Year: 2013
    ..cells, deficiencies in which lead to blindness, one focuses on the structure of rhodopsin and its role in retinal degeneration, and one examines mutations in sensory hair cells in the inner ear which have been linked to hearing loss ..
  50. 2013 Apoptotic Cell Recognition &Clearance Gordon Research Conference and Gordon
    NATHALIE CLAUDINE FRANC; Fiscal Year: 2013
    ..For example, it has been associated with Lupus, a chronic inflammatory autoimmune disease, and with retinal degeneration. Dying cells can be cleared before completion of their programmed death, and failure in this process may ..
  51. Retinal degeneration caused by alterations in protein tyrosine O-sulfation
    Muayyad R Al-Ubaidi; Fiscal Year: 2013
    ..Our second is that we observe modulations in levels and types of tyrosine-sulfated proteins during retinal degeneration in two well-studied animal models of RP, the VPP and the rds+/- mouse models...
  52. Endoplasmic Reticulum Stress in Retinal Degeneration
    Jonathan Lin; Fiscal Year: 2013
    ..During our previous research period, we investigated the role of the unfolded protein response (UPR) in retinal degeneration. The UPR comprises a set of cellular signaling pathways that detects misfolded proteins in the ER and ..
  53. Hephaestin's role in retinal iron homeostasis and retinal health
    Natalie Wolkow; Fiscal Year: 2012
    ..mutation of Hp and its homologue, Ceruloplasmin in Cp/sla mice, causes retinal iron accumulation and retinal degeneration in mice...
  54. Regulation of RPE phagocytosis via avb5 integrin
    Silvia C Finnemann; Fiscal Year: 2012
    ..mammalian eye and to understand how specific changes in these mechanisms due to aging and mutations cause retinal degeneration. Digesting several thousand POS disks every day for life, post-mitotic RPE cells are the most active ..
  55. Evaluation of stem cell-derived retinal pigment epithelial cells for retinal dise
    MARTHA D NEURINGER; Fiscal Year: 2013
    ..primate retina, including their immunogenicity and their ability to rescue visual loss in a rodent model of retinal degeneration. The project will make innovative use of unique resources, including allograft and autograft stem-cell-..
  56. Non-Viral Gene Therapy for Retinal Degeneration
    Rajendra Kumar-Singh; Fiscal Year: 2013
    Project Description Retinal degeneration is one of the most genetically heterogeneous groups of disorders known, involving over 184 loci...
  57. Models of Retinal Degeneration
    Matthew M Lavail; Fiscal Year: 2013
    ..of short gestation time;small size;powerful genetic control in the form of several readily available retinal degeneration mutants, multiple inbred and congenic strains with genetic controls;and the potential to carry out certain ..
  58. Regulation of Rhodopsin Expression
    Donald J Zack; Fiscal Year: 2012
    ..some of these factors can both interfere with normal photoreceptor development in the mouse and can cause retinal degeneration in man. This application for continued funding of these studies proposes to continue and broaden this work...
  59. Analysis of autophagy and mitochondrial homeostasis in a human iPS model of NCL
    JOHN FRANCOIS STAROPOLI; Fiscal Year: 2013
    ..lysosomal storage diseases with clinical features that include progressive motor and cognitive decline, retinal degeneration and visual loss in most cases, seizures, movement disorder, and eventual premature death...
  60. A murine model for human factor H R1210C mutation-related diseases
    Wenchao Song; Fiscal Year: 2013
    ..We will generate by gene targeting a D1210C mutant mouse and determine if this mouse develops aHUS and/or retinal degeneration resembling human AMD...
  61. Retinal Pigmented Epithelium Reprogramming and Retina Regeneration
    Katia Del Rio-Tsonis; Fiscal Year: 2013
    Project Summary Retinal degeneration leading to vision loss is the ultimate outcome of age related macular degeneration (AMD), diabetic retinopathy and glaucoma...
  62. Necroptosis and Neuroprotection in AMD
    Demetrios Vavvas; Fiscal Year: 2013
    ..addition to caspase-dependent apoptosis is involved in photoreceptor death in a retinal detachment model of retinal degeneration and that effective neuroprotection necessitates combination therapy...
  63. Development of a cell replacement therapy to treat retinal degenerative blindness
    BUDD ALBERT TUCKER; Fiscal Year: 2010
    ..for its ability to induce functional regeneration and restoration of vision in a large animal model of retinal degeneration. ) Public Health Relevance: Retinal degenerative diseases such as retinitis pigmentosa (RP) and age-related ..
  64. Targeting Muller Cells to Treat Optic Nerve Injury
    Sherry Ball; Fiscal Year: 2009
    ..cell function contribute to vision losses and that the modulation of glial cell reactivity will minimize retinal degeneration and thus vision loss...
  65. Pluripotent Adult Spermatogonial Stem Cells: Prospective for Retinal Degeneration
    Nady Golestaneh; Fiscal Year: 2010
    b>Retinal degeneration is the leading cause of blindness in the United States and other first world countries characterized by loss of retinal photoreceptor cells...
  66. Retinal Degeneration Conference
    Robert E Anderson; Fiscal Year: 2010
    ..There is ample evidence that this conference has had profound effects on the scientific careers of many of the young scientists who attended. ..
  67. RESCUE OF RETINAL DEGENERATION BY GENE THERAPY
    MICHAEL SUBER; Fiscal Year: 1999
    ..It is our contention that the experience gained in the experiments detailed in this proposal will form the basis for future human clinical trials that will attempt to prevent blindness in patients afflicted with RP. ..
  68. RETINAL REGENERATION IN VIVO AND IN VITRO
    PETER MACLEISH; Fiscal Year: 1992
    ..Preliminary experiments have shown that eyes put directly into culture do not show retinal degeneration or regeneration...
  69. Small Molecule Inhibitors of Cilia
    Wallace Marshall; Fiscal Year: 2007
    ..polycystic kidney disease, hydrocephalus, syndromic obesity, chronic sinusitis, bronchiectasis, and retinal degeneration. Small molecule modulators would provide critical tools for studying dynamic events in cilia, and might ..
  70. Genetic Mechanisms of Retinal Degenerative Disease
    JANIS LEM GEE; Fiscal Year: 2010
    ..We hypothesize that cGMP hydrolysis resulting from persistent transducin signaling causes retinal degeneration. The drop in cGMP increases the fraction of rod cyclic nucleotide gated (CNG) channels in the closed ..
  71. X-LINKED RETINITIS PIGMENTOSA
    Hemant Khanna; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): X-linked retinitis pigmentosa (XLRP) is a relatively severe retinal degeneration with six distinct mapped loci;nonetheless, mutations in the RPGR gene are detected in 70-80% of XLRP and 25% of simplex ..
  72. ISOLATION & CHARACTERIZATION OF HRG4, A NEW RETINAL GENE
    George Inana; Fiscal Year: 2003
    ..ERG abnormality, consistent with a problem in neurotransmission at the photoreceptor synapse and late-onset retinal degeneration; (3) HRG4 is present in the rod and cone photoreceptor synapses, making it the first synaptic protein ..
  73. THE PATHOBIOLOGY OF INHERITED RETINAL DEGENERATION
    Dean Bok; Fiscal Year: 2006
    ..Employing the spontaneously- mutated mouse model, retinal degeneration slow (rds) as the genetic background for this work, we will study transgenic lines carrying the rds point ..