retinitis pigmentosa

Summary

Summary: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.

Top Publications

  1. ncbi Retinitis pigmentosa
    Dyonne T Hartong
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Lancet 368:1795-809. 2006
  2. pmc Genes and mutations causing retinitis pigmentosa
    S P Daiger
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA
    Clin Genet 84:132-41. 2013
  3. 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
  4. ncbi Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa
    Vladimir Pena
    AG Röntgenkristallographie, Max Planck Institut fur biophysikalische Chemie, Am Fassberg 11, D 37077 Gottingen, Germany
    Mol Cell 25:615-24. 2007
  5. pmc Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
    William A Beltran
    Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 109:2132-7. 2012
  6. pmc Next-generation genetic testing for retinitis pigmentosa
    Kornelia Neveling
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 33:963-72. 2012
  7. ncbi Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa
    J E Olsson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Neuron 9:815-30. 1992
  8. ncbi High-resolution imaging with adaptive optics in patients with inherited retinal degeneration
    Jacque L Duncan
    Department of Ophthalmology, University of California, San Francisco School of Medicine, San Francisco, California 94143 0730, USA
    Invest Ophthalmol Vis Sci 48:3283-91. 2007
  9. ncbi Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
    Science 280:1753-7. 1998
  10. 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

Research Grants

  1. BIOCHEMISTRY OF PRE-MRNA SPLICING
    Adrian R Krainer; Fiscal Year: 2010
  2. Exome re-sequencing candidate loci for familial essential tremor
    Barry E Kosofsky; Fiscal Year: 2012
  3. Ceramide Metabolism and Photoreceptor Homeostasis
    Usha R Acharya; Fiscal Year: 2013
  4. MOUSE MODEL FOR DISEASES OF PROTEIN MISFOLDING
    P Michael Conn; Fiscal Year: 2012
  5. Mechanisms of Splicing Regulation During Environmental Stress in Yeast
    Jaclyn C Greimann; Fiscal Year: 2012
  6. RNA polymerase II Elongation Complex: Structure and Function
    Daniel Reines; Fiscal Year: 2013
  7. Gene Therapy for Retinitis Pigmentosa
    Rajendra Kumar-Singh; Fiscal Year: 2012
  8. Astrocyte Development and Reactive Gliosis
    Teri L Belecky-Adams; Fiscal Year: 2012
  9. Vision Sciences Training Grant
    Carol A Mason; Fiscal Year: 2013
  10. The Role of RNA Splicing Factors in Retinal Degeneration
    Michael Farkas; Fiscal Year: 2012

Detail Information

Publications321 found, 100 shown here

  1. ncbi Retinitis pigmentosa
    Dyonne T Hartong
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Lancet 368:1795-809. 2006
    ..This Seminar focuses on the subset of diseases called retinitis pigmentosa, in which patients typically lose night vision in adolescence, side vision in young adulthood, and central ..
  2. pmc Genes and mutations causing retinitis pigmentosa
    S P Daiger
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA
    Clin Genet 84:132-41. 2013
    b>Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences...
  3. 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
    ..death is the major hallmark of a group of human inherited retinal degenerations commonly referred to as retinitis pigmentosa (RP)...
  4. ncbi Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa
    Vladimir Pena
    AG Röntgenkristallographie, Max Planck Institut fur biophysikalische Chemie, Am Fassberg 11, D 37077 Gottingen, Germany
    Mol Cell 25:615-24. 2007
    ..Snu114 bind to the Prp8 C terminus, a region where mutations in human Prp8 are linked to the RP13 form of Retinitis pigmentosa. We show crystallographically that the C-terminal domain of yeast Prp8p exhibits a Jab1/MPN-like core known ..
  5. pmc Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
    William A Beltran
    Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 109:2132-7. 2012
    ..augmentation therapy in two blinding canine photoreceptor diseases that model the common X-linked form of retinitis pigmentosa caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene, which encodes a photoreceptor ..
  6. pmc Next-generation genetic testing for retinitis pigmentosa
    Kornelia Neveling
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Hum Mutat 33:963-72. 2012
    Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date...
  7. ncbi Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa
    J E Olsson
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Neuron 9:815-30. 1992
    We inserted into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene...
  8. ncbi High-resolution imaging with adaptive optics in patients with inherited retinal degeneration
    Jacque L Duncan
    Department of Ophthalmology, University of California, San Francisco School of Medicine, San Francisco, California 94143 0730, USA
    Invest Ophthalmol Vis Sci 48:3283-91. 2007
    ..To investigate macular photoreceptor structure in patients with inherited retinal degeneration using high-resolution images and to correlate the findings with clinical phenotypes and genetic mutations...
  9. ncbi Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
    J D Eudy
    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, NE 68198, USA
    Science 280:1753-7. 1998
    ..autosomal recessive disorder characterized by moderate to severe sensorineural hearing loss and progressive retinitis pigmentosa, maps to the long arm of human chromosome 1q41 between markers AFM268ZD1 and AFM144XF2...
  10. 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
    ..that primary death of rod photoreceptors 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)...
  11. ncbi Laboratory evidence of sustained chronic inflammatory reaction in retinitis pigmentosa
    Noriko Yoshida
    Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Ophthalmology 120:e5-12. 2013
    To study the nature of retinal inflammatory response in rd10 mice, an animal model of retinitis pigmentosa (RP), and to investigate the effect of an antioxidant on retinal inflammation and photoreceptor apoptosis.
  12. ncbi Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa
    Paola Benaglio
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Hum Mutat 32:E2246-58. 2011
    ..Two mutations in SNRNP200 have recently been associated with autosomal dominant retinitis pigmentosa (adRP), a retinal degenerative disease, in two families from China...
  13. pmc Generation of an inbred miniature pig model of retinitis pigmentosa
    Jason W Ross
    Department of Animal Science, Iowa State University, Ames, Iowa, USA
    Invest Ophthalmol Vis Sci 53:501-7. 2012
    The Pro23His (P23H) rhodopsin (RHO) mutation underlies the most common form of human autosomal dominant retinitis pigmentosa (adRP)...
  14. pmc Integration-free induced pluripotent stem cells derived from retinitis pigmentosa patient for disease modeling
    Zi Bing Jin
    Center for Vision Research, School of Ophthalmology and Optometry, Eye Hospital of Wenzhou Medical College, Wenzhou, China
    Stem Cells Transl Med 1:503-9. 2012
    We investigated retinitis pigmentosa (RP) caused by a mutation in the gene rhodopsin (RHO) with a patient-specific rod cell model generated from induced pluripotent stem cells (iPSCs) derived from an RP patient...
  15. pmc Restoration of visual function in P23H rhodopsin transgenic rats by gene delivery of BiP/Grp78
    Marina S Gorbatyuk
    Department of Molecular Genetics, University of Florida, Gainesville, FL 32610, USA
    Proc Natl Acad Sci U S A 107:5961-6. 2010
    ..the unfolded protein response (UPR), leading to rod photoreceptor degeneration and autosomal dominant retinitis pigmentosa (ADRP). Grp78/BiP is an ER-localized chaperone that is induced by UPR signaling in response to ER stress...
  16. pmc Retinal organization in the retinal degeneration 10 (rd10) mutant mouse: a morphological and ERG study
    Claudia Gargini
    Dipartimento di Psichiatria, Neurobiologia, Farmacologia e Biotecnologie, Universita di Pisa, 56100 Pisa, Italy
    J Comp Neurol 500:222-38. 2007
    Retinal degeneration 10 (rd10) mice are a model of autosomal recessive retinitis pigmentosa (RP), identified by Chang et al. in 2002 (Vision Res. 42:517-525)...
  17. pmc Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation
    Yu Kigoshi
    Graduate School of Life and Environmental Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8577, Japan
    J Biol Chem 286:33613-21. 2011
    ..it was reported that missense mutations in KLHL7, a BTB-Kelch protein, are related to autosomal dominant retinitis pigmentosa (adRP)...
  18. pmc Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa
    Cristina Méndez-Vidal
    Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío CSIC University of Seville, Seville, Spain Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Seville, Spain
    Mol Vis 19:2187-95. 2013
    b>Retinitis pigmentosa (RP) is an inherited retinal dystrophy characterized by extreme genetic and clinical heterogeneity. Thus, the diagnosis is not always easily performed due to phenotypic and genetic overlap...
  19. pmc X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene
    R Jalkanen
    J Med Genet 43:699-704. 2006
    ..CORDX1 is caused by mutations in the RPGR gene (Xp21.1), CORDX2 is located on Xq27.2-28, and we recently localised CORDX3 to Xp11.4-q13.1. We aimed to identify the causative gene behind the CORDX3 phenotype...
  20. ncbi Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8
    Cecilia G Maubaret
    Institute of Ophthalmology, University College London, and Moorfields Eye Hospital, London, United Kingdom
    Invest Ophthalmol Vis Sci 52:9304-9. 2011
    The aim of this study was to report detailed genotype/phenotype correlation in two British autosomal dominant retinitis pigmentosa (adRP) families with recently described mutations in PRPF8.
  21. pmc Receptor interacting protein kinase mediates necrotic cone but not rod cell death in a mouse model of inherited degeneration
    Yusuke Murakami
    Retina Service, Angiogenesis Laboratory, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 109:14598-603. 2012
    b>Retinitis pigmentosa comprises a group of inherited retinal photoreceptor degenerations that lead to progressive loss of vision...
  22. ncbi The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition
    S Gerber
    INSERM U393, Hopital Necker, Paris, France
    Hum Genet 107:276-84. 2000
    ..a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP)...
  23. pmc Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations
    Abigail T Fahim
    School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, United States of America
    PLoS ONE 6:e23021. 2011
    Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness...
  24. ncbi Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery
    Akira Hagiwara
    Department of Ophthalmology and Visual Science, Chiba University Graduate School of Medicine, Japan
    Acta Ophthalmol 89:e122-5. 2011
    To determine the prevalence of macular abnormalities detected by optical coherence tomography (OCT) in patients with retinitis pigmentosa (RP), and to report the results of pars plana vitrectomy (PPV) in five patients with RP.
  25. 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...
  26. pmc Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
    Hardeep Pal Singh
    Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
    Invest Ophthalmol Vis Sci 50:4065-71. 2009
    ..To identify the disease-causing genes in families with autosomal recessive RP (ARRP)...
  27. pmc Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 86:783-8. 2010
    With a worldwide prevalence of 1 in 4,000, retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. More than 30 genes and loci have been implicated in nonsyndromic autosomal-recessive (ar) RP...
  28. pmc Antioxidants reduce cone cell death in a model of retinitis pigmentosa
    Keiichi Komeima
    Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD 21287 9277, USA
    Proc Natl Acad Sci U S A 103:11300-5. 2006
    b>Retinitis pigmentosa (RP) is a label for a group of diseases caused by a large number of mutations that result in rod photoreceptor cell death followed by gradual death of cones. The mechanism of cone cell death is uncertain...
  29. ncbi A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    T P Dryja
    Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
    Nature 343:364-6. 1990
    The gene for autosomal dominant retinitis pigmentosa in a large pedigree of Irish origin has recently been found to be linked to an anonymous polymorphic sequence, D3S47 (C17), from the long arm of chromosome 3...
  30. 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
    b>Retinitis pigmentosa (RP) is a group of inherited human diseases in which photoreceptor degeneration leads to visual loss and eventually to blindness...
  31. ncbi Retinopathy induced in mice by targeted disruption of the rhodopsin gene
    M M Humphries
    Wellcome Ocular Genetics Unit, Genetics Department, Trinity College, Dublin, Ireland
    Nat Genet 15:216-9. 1997
    b>Retinitis pigmentosa (RP) represents the most common mendelian degenerative retinopathy of man, involving death of rod photoreceptors, cone cell degeneration, retinal vessel attenuation and pigmentary deposits...
  32. ncbi Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy
    Hugo F Mendes
    Division of Pathology, Institute of Ophthalmology, University College London, 11 43 Bath Street, London, EC1V 9EL, UK
    Trends Mol Med 11:177-85. 2005
    b>Retinitis pigmentosa (RP) is a group of retinal degenerative diseases that are characterised primarily by the loss of rod photoreceptor cells. Mutations in rhodopsin are the most common cause of autosomal-dominant RP (ADRP)...
  33. pmc Modifications of retinal neurons in a mouse model of retinitis pigmentosa
    E Strettoi
    Istituto di Neurofisiologia del Consiglio Nazionale delle Ricerche, Area della Ricerca Consiglio Nazionale delle Ricerche, Via San Cataldo 1, 56100 Pisa, Italy
    Proc Natl Acad Sci U S A 97:11020-5. 2000
    Animal models of retinitis pigmentosa include the rd mouse, in which a mutation of a rod-specific phosphodiesterase leads to the rapid loss of photoreceptors during the early postnatal life...
  34. ncbi Genetic reactivation of cone photoreceptors restores visual responses in retinitis pigmentosa
    Volker Busskamp
    Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland
    Science 329:413-7. 2010
    b>Retinitis pigmentosa refers to a diverse group of hereditary diseases that lead to incurable blindness, affecting two million people worldwide...
  35. pmc Stimulation of the insulin/mTOR pathway delays cone death in a mouse model of retinitis pigmentosa
    Claudio Punzo
    Harvard Medical School, Department of Genetics and Howard Hughes Medical Institute, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Nat Neurosci 12:44-52. 2009
    b>Retinitis pigmentosa is an incurable retinal disease that leads to blindness. One puzzling aspect concerns the progression of the disease...
  36. pmc Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss
    C Rivolta
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, 02114, USA
    Am J Hum Genet 66:1975-8. 2000
    ..in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss...
  37. ncbi Testing of semichronically implanted retinal prosthesis by suprachoroidal-transretinal stimulation in patients with retinitis pigmentosa
    Takashi Fujikado
    Department of Applied Visual Science, Osaka University Graduate School of Medicine, Osaka, Japan
    Invest Ophthalmol Vis Sci 52:4726-33. 2011
    To examine the safety and effectiveness of a retinal prosthesis that is implanted semichronically in two patients with advanced retinitis pigmentosa (RP).
  38. pmc Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa
    Riza Koksal Ozgul
    Institute of Child Health and Metabolism Unit, Department of Pediatrics, Hacettepe University, Ankara, Turkey
    Am J Hum Genet 89:253-64. 2011
    ..To address this problem in the context of a genetically heterogeneous disease, retinitis pigmentosa (RP), we devised a candidate-gene prioritization strategy called cis-regulatory mapping that utilizes ChIP-..
  39. ncbi Zinc-desferrioxamine attenuates retinal degeneration in the rd10 mouse model of retinitis pigmentosa
    Alexey Obolensky
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
    Free Radic Biol Med 51:1482-91. 2011
    ..oxidative injury plays a role in retinal degeneration such as age-related macular degeneration and retinitis pigmentosa. The metallo-complex zinc-desferrioxamine (Zn/DFO) may ameliorate such injury by chelation of labile iron ..
  40. pmc The transition zone between healthy and diseased retina in patients with retinitis pigmentosa
    Donald C Hood
    Department of Psychology, ColumbiaUniversity, New York, NY, USA
    Invest Ophthalmol Vis Sci 52:101-8. 2011
    To describe the structural changes in the transition zone from relatively healthy retinal regions to severely affected regions in patients with retinitis pigmentosa (RP) using frequency domain optical coherence tomography (fdOCT).
  41. pmc Long-term RNA interference gene therapy in a dominant retinitis pigmentosa mouse model
    Li Jiang
    Department of Ophthalmology, University of Utah Health Science Center, Salt Lake City, UT 84132, USA
    Proc Natl Acad Sci U S A 108:18476-81. 2011
    ..Our results provide a promising strategy toward effective RNAi-based gene therapy by scAAV2/8 delivery for dominant retinal diseases...
  42. pmc Differential loss and preservation of glutamate receptor function in bipolar cells in the rd10 mouse model of retinitis pigmentosa
    Theresa Puthussery
    Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland, OR, USA
    Eur J Neurosci 29:1533-42. 2009
    ..physiological with anatomical changes in bipolar cells of the rd10 mouse - a model of autosomal recessive retinitis pigmentosa. Rod bipolar cells (RBCs) showed progressive changes in mGluR6-induced currents with advancing rod ..
  43. pmc Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa
    Jennifer D Churchill
    Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA
    Invest Ophthalmol Vis Sci 54:1411-6. 2013
    ..the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) ..
  44. pmc CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance
    Giulia Venturini
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    PLoS Genet 8:e1003040. 2012
    Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness...
  45. pmc Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population
    Koji M Nishiguchi
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    PLoS ONE 7:e41902. 2012
    b>Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes...
  46. pmc Gene expression changes within Müller glial cells in retinitis pigmentosa
    Karin Roesch
    Department of Genetics, Harvard Medical School, and Howard Hughes Medical Institute, Boston, MA 02115, USA
    Mol Vis 18:1197-214. 2012
    b>Retinitis pigmentosa (RP) is a progressive retinal degeneration in which the retina loses nearly all of its photoreceptor cells and undergoes major structural changes...
  47. ncbi Diagnostic imaging in patients with retinitis pigmentosa
    Yoshinori Mitamura
    Department of Ophthalmology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan
    J Med Invest 59:1-11. 2012
    b>Retinitis pigmentosa (RP) is a progressive inherited retinal disease, and patients with RP have reduced visual function caused by a degeneration of the photoreceptors and retinal pigment epithelium (RPE)...
  48. pmc Progression of neuronal and synaptic remodeling in the rd10 mouse model of retinitis pigmentosa
    M Joseph Phillips
    University of Houston, College of Optometry, Houston, Texas 77204, USA
    J Comp Neurol 518:2071-89. 2010
    ..a moderate rate of photoreceptor degeneration and serves as a valuable model for human autosomal recessive retinitis pigmentosa (RP)...
  49. ncbi CNTF+BDNF treatment and neuroprotective pathways in the rd1 mouse retina
    Seifollah Azadi
    Department of Ophthalmology, University of Lund, BMC B13, SE 221 84 Lund, Sweden
    Brain Res 1129:116-29. 2007
    The rd1 mouse is a relevant model for studying the mechanisms of photoreceptor degeneration in retinitis pigmentosa. Treatment with ciliary neurotrophic factor (CNTF) in combination with brain derived neurotrophic factor (BDNF) is known ..
  50. pmc Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutations
    Sanae Sakami
    Department of Pharmacology, Case Western Reserve University, Cleveland, Ohio 44106, USA
    J Biol Chem 286:10551-67. 2011
    ..in the opsin gene is one of the most prevalent causes of the human blinding disease, autosomal dominant retinitis pigmentosa. Although P23H cultured cell and transgenic animal models have been developed, there remains controversy ..
  51. ncbi Optogenetic approaches to restoring visual function in retinitis pigmentosa
    Volker Busskamp
    Neural Circuit Laboratories, Friedrich Miescher Institute for Biomedical Research, Basel, Switzerland
    Curr Opin Neurobiol 21:942-6. 2011
    b>Retinitis pigmentosa is a hereditary eye disease that affects photoreceptors and leads to blindness...
  52. pmc Autosomal recessive retinitis pigmentosa due to ABCA4 mutations: clinical, pathologic, and molecular characterization
    Robert F Mullins
    Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, Iowa, USA
    Invest Ophthalmol Vis Sci 53:1883-94. 2012
    Autosomal recessive retinitis pigmentosa (ARRP) is a genetically heterogeneous condition characterized by progressive loss of retinal photoreceptor cells...
  53. ncbi Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect
    Harris Ripps
    Lions of Illinois Eye Research Institute, Department of Ophthalmology and Visual Sciences, Chicago, IL 60612, USA
    Exp Eye Res 74:327-36. 2002
    b>Retinitis pigmentosa (RP) constitutes a group of genetically mediated, degenerative retinal diseases that display a broad range of phenotypes...
  54. pmc Suppression and replacement gene therapy for autosomal dominant disease in a murine model of dominant retinitis pigmentosa
    Sophia Millington-Ward
    Department of Genetics, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland
    Mol Ther 19:642-9. 2011
    ..An example is rhodopsin-linked autosomal dominant retinitis pigmentosa with over 150 mutations in the rhodopsin gene...
  55. pmc Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing
    Sara J Bowne
    Human Genetics Center, The University of Texas Health Science Center, Houston, Texas 77030, USA
    Invest Ophthalmol Vis Sci 52:494-503. 2011
    ..b>Retinitis pigmentosa (RP) is a challenging application for this technology because it is a monogenic disease in individuals and ..
  56. pmc AAV mediated GDNF secretion from retinal glia slows down retinal degeneration in a rat model of retinitis pigmentosa
    Deniz Dalkara
    Department of Molecular and Cell Biology and the Helen Wills Neuroscience Institute, University of California, Berkeley, California 94720 3190, USA
    Mol Ther 19:1602-8. 2011
    ..is a safe and effective means to slow the progression of retinal degeneration in a rat model of retinitis pigmentosa (RP) and shows significant promise as a gene therapy to treat human retinal degenerations...
  57. pmc AAV delivery of wild-type rhodopsin preserves retinal function in a mouse model of autosomal dominant retinitis pigmentosa
    Haoyu Mao
    Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA
    Hum Gene Ther 22:567-75. 2011
    Autosomal dominant retinitis pigmentosa (ADRP) is frequently caused by mutations in RHO, the gene for rod photoreceptor opsin...
  58. pmc Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
    Almudena Avila-Fernandez
    Genetics Department, IIS Fundación Jiménez Díaz, Madrid, Spain
    Mol Vis 16:2550-8. 2010
    b>Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations in 272 Spanish families using a genotyping microarray.
  59. ncbi Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase
    S H Huang
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Massachusetts, USA
    Nat Genet 11:468-71. 1995
    b>Retinitis pigmentosa (RP) constitutes a group of genetically heterogeneous progressive photoreceptor degenerations leading to blindness and affecting 50,000-100,000 people in the U.S. alone...
  60. pmc A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
    Sara J Bowne
    Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA
    Eur J Hum Genet 19:1074-81. 2011
    ..0 SNP Arrays mapped the disease locus in TCD-G, an Irish family with autosomal dominant retinitis pigmentosa (adRP), to an 8.8 Mb region on 1p31...
  61. pmc Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration
    Carlos A Murga-Zamalloa
    Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI 48105, USA
    Hum Mol Genet 19:3591-8. 2010
    ..The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple ..
  62. pmc Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa
    Hui Wang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 84:380-7. 2009
    Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children...
  63. pmc Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A
    Eliot L Berson
    Berman Gund Laboratory for Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Arch Ophthalmol 128:403-11. 2010
    To determine whether lutein supplementation will slow visual function decline in patients with retinitis pigmentosa receiving vitamin A.
  64. ncbi A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
    Inga Ebermann
    Institute of Human Genetics, University Hospital of Cologne, Kerpener Str 34, 50931 Cologne, Germany
    Hum Genet 121:203-11. 2007
    ..characterized by sensorineural hearing loss, variable vestibular dysfunction, and visual impairment due to retinitis pigmentosa (RP)...
  65. 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
    ..Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (..
  66. pmc Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II
    Erwin Van Wijk
    Department of Otorhinolaryngology, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 74:738-44. 2004
    ..type IIa, which is the most common subtype of Usher syndrome and is characterized by hearing loss and retinitis pigmentosa. Since mutation analysis by DNA sequencing of exons 1-21 revealed only ~63% of the expected USH2A mutations,..
  67. ncbi Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa
    David A Simpson
    Queen s University Belfast, Centre for Vision and Vascular Science, Ophthalmic Research Centre, Institute of Clinical Science A, Royal Victoria Hospital, Belfast BT12 6BA, N Ireland, UK
    J Med Genet 48:145-51. 2011
    The genetic heterogeneity of many Mendelian disorders, such as retinitis pigmentosa which results from mutations in over 40 genes, is a major obstacle to obtaining a molecular diagnosis in clinical practice...
  68. pmc Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
    Alice E Davidson
    Genetic Medicine, The University of Manchester, Manchester Academic Heath Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
    Am J Hum Genet 85:581-92. 2009
    ..we believe are previously unreported, in patients diagnosed with autosomal-dominant and -recessive forms of retinitis pigmentosa (RP)...
  69. pmc Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa
    James S Friedman
    Neurobiology Neurodegeneration and Repair Laboratory N NRL, National Eye Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Am J Hum Genet 84:792-800. 2009
    b>Retinitis pigmentosa (RP) refers to a genetically heterogeneous group of progressive neurodegenerative diseases that result in dysfunction and/or death of rod and cone photoreceptors in the retina...
  70. pmc Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling
    George Stratigopoulos
    Division of Molecular Genetics, Department of Pediatrics and Naomi Berrie Diabetes Center, Columbia University, New York, New York 10032, USA
    J Biol Chem 286:2155-70. 2011
    ....
  71. ncbi Histopathology of the human retina in retinitis pigmentosa
    A H Milam
    Department of Ophthalmology, University of Washington, Seattle 98195 6485, USA
    Prog Retin Eye Res 17:175-205. 1998
    The term, 'retinitis pigmentosa', refers to a heterogeneous group of inherited diseases that cause degeneration of rod and cone photoreceptors in the human retina...
  72. ncbi The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation
    Richard S Saliba
    Division of Pathology, Institute of Ophthalmology, University College London, UK
    J Cell Sci 115:2907-18. 2002
    Mutations in the photopigment rhodopsin are the major cause of autosomal dominant retinitis pigmentosa. The majority of mutations in rhodopsin lead to misfolding of the protein...
  73. ncbi A key role for cyclic nucleotide gated (CNG) channels in cGMP-related retinitis pigmentosa
    Francois Paquet-Durand
    Division of Experimental Ophthalmology, Institute for Ophthalmic Research, University of Tubingen, Röntgenweg 11, 72076 Tubingen, Germany
    Hum Mol Genet 20:941-7. 2011
    The rd1 natural mutant is one of the first and probably the most commonly studied mouse model for retinitis pigmentosa (RP), a severe and frequently blinding human retinal degeneration...
  74. pmc Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
    Karin W Littink
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 51:5943-51. 2010
    ..To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients...
  75. pmc Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay
    Thomas Rio Frio
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    J Clin Invest 118:1519-31. 2008
    Dominant mutations in the gene encoding the mRNA splicing factor PRPF31 cause retinitis pigmentosa, a hereditary form of retinal degeneration...
  76. pmc Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa
    Ji Jing Pang
    Eye Hospital, School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang, China
    Mol Ther 19:234-42. 2011
    The retinal degeneration 10 (rd10) mouse is a well-characterized model of autosomal recessive retinitis pigmentosa (RP), which carries a spontaneous mutation in the β subunit of rod cGMP-phosphodiesterase (PDEβ)...
  77. pmc Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
    A Hameed
    J Med Genet 40:616-9. 2003
  78. pmc Remodeling of cone photoreceptor cells after rod degeneration in rd mice
    Bin Lin
    Harvard Medical School, Massachusetts General Hospital, Boston, MA 02114, USA
    Exp Eye Res 88:589-99. 2009
    ..Cone photoreceptors in retinas of human RP donors appear from their morphology to undergo a similar progression. The therapeutic window for rescue of cone photoreceptors may be longer than would have been thought...
  79. ncbi NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)
    Daniel F Schorderet
    Institute for Research in Ophthalmology, Sion, Switzerland
    Hum Mutat 30:1475-85. 2009
    ..A single p.G56R mutation is inherited in a dominant manner and causes retinitis pigmentosa (RP). We have established a new locus-specific database for NR2E3 (www.LOVD...
  80. ncbi Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H
    Syed M Noorwez
    Department of Ophthalmology, College of Medicine, University of Florida, Gainesville, Florida 32610, USA
    J Biol Chem 279:16278-84. 2004
    The clinically common mutant opsin P23H, associated with autosomal dominant retinitis pigmentosa, yields low levels of rhodopsin when retinal is added following induction of the protein in stably transfected HEK-293 cells...
  81. pmc The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis
    Yun Zhao
    The Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 100:3965-70. 2003
    b>Retinitis pigmentosa is a photoreceptor degenerative disease leading to blindness in adulthood. Leber congenital amaurosis (LCA) describes a more severe condition with visual deficit in early childhood...
  82. 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
    ..identified the disease-causing mutation in approximately one-third of subjects with autosomal dominant retinitis pigmentosa (adRP) or with autosomal dominant cone-rod dystrophy (adCORD)...
  83. ncbi High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
    Rob W J Collin
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 52:2227-39. 2011
    To determine the genetic defects underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch population and in a subset of patients originating from other countries...
  84. pmc Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors
    Mei Hong Tan
    Institute of Ophthalmology, NIHR Biomedical Research Centre, University College London, London, UK
    Hum Mol Genet 18:2099-114. 2009
    ..the severest form of early-onset retinal dystrophy and milder forms of retinal dystrophies such as juvenile retinitis pigmentosa and dominant cone-rod dystrophy. [Perrault, I., Rozet, J.M., Gerber, S., Ghazi, I., Leowski, C., Ducroq, D...
  85. pmc Genetic supplementation of RDS alleviates a loss-of-function phenotype in C214S model of retinitis pigmentosa
    May Nour
    Cell Biology, University of Oklahoma Health Sciences Center, 940 Stanton L Young Blvd, Oklahoma City, OK 73104, USA
    Adv Exp Med Biol 613:129-38. 2008
  86. ncbi Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa
    A S Lewin
    Department of Molecular Genetics and Microbiology, Gene Therapy Center, University of Florida College of Medicine, Gainesville 32610, USA
    Nat Med 4:967-71. 1998
    ..Twelve percent of American patients with the blinding disease autosomal dominant retinitis pigmentosa (ADRP) carry a substitution of histidine for proline at codon 23 (P23H) in their rhodopsin gene, resulting ..
  87. ncbi Clearance of Rhodopsin(P23H) aggregates requires the ERAD effector VCP
    Ana Griciuc
    Department of Protein Science, Helmholtz Zentrum Muenchen German Research Center for Environmental Health GmbH, 85764 Neuherberg, Germany
    Biochim Biophys Acta 1803:424-34. 2010
    Dominant mutations in the visual pigment Rhodopsin (Rh) cause retinitis pigmentosa (RP) characterized by progressive blindness and retinal degeneration...
  88. pmc Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II
    Wenjun Xu
    Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Laboratory, Beijing, China
    Mol Vis 17:1537-52. 2011
    To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2).
  89. pmc GCAP1 mutations associated with autosomal dominant cone dystrophy
    Li Jiang
    Department of Biology, University of Utah, Salt Lake City, UT 84132, USA
    Adv Exp Med Biol 664:273-82. 2010
    ..In this article we review these mutations and describe the consequences of specific mutations on GCAP1 structure and GC stimulation...
  90. pmc Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa
    Budd A Tucker
    Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA
    Proc Natl Acad Sci U S A 108:E569-76. 2011
    b>Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells...
  91. ncbi Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands
    Ophthalmology 119:819-26. 2012
    ..To evaluate the clinical course, genetic etiology, and visual prognosis in patients with cone dystrophy (CD) and cone-rod dystrophy (CRD)...
  92. 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
    ..Our data establish LIF as a Muller cell derived neuronal survival factor which controls an intrinsic protective mechanism that includes Edn2 signaling to support photoreceptor cell survival and to preserve vision in the injured retina...
  93. pmc Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation
    Keiko Miyadera
    Department of Veterinary Medicine, University of Cambridge, Madingley Road, Cambridge, United Kingdom
    Mol Vis 15:2287-305. 2009
    Previously, a 44 bp insertion in exon 2 of retinitis pigmentosa GTPase interacting protein 1 (RPGRIP1) was identified as the cause of cone-rod dystrophy 1 (cord1), a recessive form of progressive retinal atrophy (PRA) in the Miniature ..
  94. pmc Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene
    Prateek K Buch
    University College London Institute of Ophthalmology, London, United Kingdom
    PLoS ONE 6:e18089. 2011
    ..Importantly, this knock-in mutant mouse has many features in common with the human disease, thereby making it an excellent model to further probe disease pathogenesis and investigate therapeutic interventions...
  95. ncbi Antioxidants slow photoreceptor cell death in mouse models of retinitis pigmentosa
    Keiichi Komeima
    Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287 9277, USA
    J Cell Physiol 213:809-15. 2007
    b>Retinitis pigmentosa (RP) is a heterogeneous group of diseases in which one of a wide variety of mutations selectively causes rod photoreceptor cell death. After rods die, cone photoreceptors gradually die resulting in blindness...
  96. ncbi The clinical efficacy of a topical dorzolamide in the management of cystoid macular edema in patients with retinitis pigmentosa
    Yasuhiro Ikeda
    Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    Graefes Arch Clin Exp Ophthalmol 250:809-14. 2012
    Cystoid macular edema (CME) is one of the common complications of retinitis pigmentosa (RP), and is responsible for patient complications such as blurred and reduced visual acuity and for subsequent atrophic changes in the fovea...
  97. pmc A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family
    Xueshan Xiao
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, 54 Xianlie Road, Guangzhou, China
    Mol Vis 17:3271-8. 2011
    ..To identify the genetic locus and mutation responsible for autosomal dominant cone dystrophy (adCOD) in a large Chinese family and to describe the phenotypes of the patients...
  98. ncbi Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss
    Zubin Saihan
    Institute of Ophthalmology, UCL, London, UK
    Retina 31:1708-16. 2011
    To determine the molecular cause of sector retinitis pigmentosa and hearing loss in two affected siblings.
  99. pmc Improved retinal function in a mouse model of dominant retinitis pigmentosa following AAV-delivered gene therapy
    Naomi Chadderton
    Department of Genetics, Smurfit Institute of Genetics, Trinity College Dublin, Dublin 2, Ireland
    Mol Ther 17:593-9. 2009
    ..study, various aspects of this strategy are explored for a dominant form of the retinal degeneration, retinitis pigmentosa (RP), caused by mutations in the rhodopsin gene (RHO-adRP)...
  100. pmc Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retina
    R A Pearson
    Department of Genetics, University College London Institute of Ophthalmology, London, UK
    Cell Transplant 19:487-503. 2010
    ..is significantly higher when rod precursors are transplanted into Crb1(rd8/rd8) mice, a model of retinitis pigmentosa and Lebers congenital amaurosis that lacks functional CRB1 protein and displays disruption of the OLM (7,..
  101. ncbi Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1
    M Smith
    Department of Ophthalmology, Torbay Hospital, Torquay, Devon, UK
    Eye (Lond) 21:1220-5. 2007
    ..To describe the phenotype of members of a large Caucasian British family affected by autosomal dominant cone-rod dystrophy due to an R838C mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1 (RETGC-1)...

Research Grants74

  1. BIOCHEMISTRY OF PRE-MRNA SPLICING
    Adrian R Krainer; Fiscal Year: 2010
    ..Mutations in splicing factors are also associated with inherited diseases, such as retinitis pigmentosa, and with cancer...
  2. Exome re-sequencing candidate loci for familial essential tremor
    Barry E Kosofsky; Fiscal Year: 2012
    ..virus subgroup C receptor 1 gene, as the cause of the Mendelian disorder, posterior column ataxia and retinitis pigmentosa, in three unrelated families by high density sequencing of the 4.2 megabase (Mb) candidate region...
  3. Ceramide Metabolism and Photoreceptor Homeostasis
    Usha R Acharya; Fiscal Year: 2013
    ..studies have recently identified mutations in a ceramide kinase like gene leading to autosomal recessive Retinitis Pigmentosa in patients...
  4. MOUSE MODEL FOR DISEASES OF PROTEIN MISFOLDING
    P Michael Conn; Fiscal Year: 2012
    ..from this approach) include cystic fibrosis, hypogonadotropic hypogonadism, nephrogenic diabetes insipidus, retinitis pigmentosa, hypercholesterolemia, cataracts, neurodegenerative diseases (Huntington's, Alzheimer's and ..
  5. Mechanisms of Splicing Regulation During Environmental Stress in Yeast
    Jaclyn C Greimann; Fiscal Year: 2012
    ..When any of these processing pathways is incorrectly regulated in mammals, diseases arise such as Retinitis pigmentosa caused by mutation of proteins involved in splicing (Cooper et al., 2009)...
  6. RNA polymerase II Elongation Complex: Structure and Function
    Daniel Reines; Fiscal Year: 2013
    ..Mutations in human IMPDH are linked to retinitis pigmentosa. Small molecules that inhibit it are effective drugs in wide use as valuable immunosuppressants in organ ..
  7. Gene Therapy for Retinitis Pigmentosa
    Rajendra Kumar-Singh; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): The long-term objective of this study is to develop a therapy for Retinitis Pigmentosa (RP), a disease that causes photoreceptor degeneration and blindness...
  8. Astrocyte Development and Reactive Gliosis
    Teri L Belecky-Adams; Fiscal Year: 2012
    ..Reactive glia are present in many eye diseases, including glaucoma, age-related macular degeneration, retinitis pigmentosa, diabetic retinopathy and retinopathy of prematurity...
  9. Vision Sciences Training Grant
    Carol A Mason; Fiscal Year: 2013
    ..and the genetics, diagnostics and therapy of retinal disorders, with a focus on macular degeneration, retinitis pigmentosa, diabetic retinopathy, and retinopathy of prematurity...
  10. 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...
  11. Gross Hall Animal Resource Center
    Susan V Bryant; Fiscal Year: 2010
    ..Alzheimer's disease, cancer, diabetes and other metabolic disorders, immunology, macular degeneration, retinitis pigmentosa, herpes-related blindness, spinal cord injury, and stroke...
  12. Screen for Small Molecule Regulators of Retinal Progenitor Epithelial Cell Phagoc
    CHARLES YOON HYUNG CHO; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): Retinitis Pigmentosa (RP) is a genetic disease leading to blindness...
  13. The Effect Of Deafness Associated Mutations on MyosinVIIA Function
    Eva Forgacs; Fiscal Year: 2010
    ..disorders including the Usher syndrome 1B, characterized by deafness, vestibular dysfunction and blindness (retinitis pigmentosa), and two autosomal recessive hearing disorders, DFNA11 and DFNB2 in humans, and the shaker-1 phenotype in ..
  14. Serotonin Receptor Modulation of Neurotrophic Factors in the Retina
    Mark E Pennesi; Fiscal Year: 2013
    ..The focus of his research will be to develop new treatments for retinal degenerations such as Retinitis Pigmentosa (RP). RP is the most common causes of inherited blindness in the United States...
  15. Gene therapy to support cone metabolism in retinitis pigmentosa
    Constance L Cepko; Fiscal Year: 2013
    ..One such approach is to preserve cone function in retinitis pigmentosa (RP). People with RP initially have poor night vision, as rods are dysfunctional...
  16. FASEB SRC on
    Bradley K Yoder; Fiscal Year: 2013
    ..Syndrome, Alstrom Syndrome (ALS), Senior-Loken Syndrome, Primary Ciliary Dyskinesia, Nephronophthisis, Retinitis Pigmentosa, and Polycystic Kidney Diseases (PKD)...
  17. SPLICING OF MRNA PRECURSORS
    Michael R Green; Fiscal Year: 2013
    ..machineryghas been shown to result in a variety of human diseases including atypical cystic fibrosis, retinitis pigmentosa, spinal muscular atrophy and facioscapulohumeral muscular dystrophy, and has also been associated with ..
  18. GABA chaperoning of epilepsy-associated GABAA receptor mutants.
    Nancy J Leidenheimer; Fiscal Year: 2012
    ..show promise for rescue by pharmacological chaperones, including those associated with cystic fibrosis, retinitis pigmentosa, long QT syndrome and Fabry's disease (Bernier et al., 2004)...
  19. Expression control in Drosophila splicing assembly factor RNP-4F
    JACK VAUGHN; Fiscal Year: 2010
    ..which has been shown to be due to mutations in three different PRP genes (also present in Drosophila) is retinitis pigmentosa (RP), affecting 1 in 4000 individuals, being characterized by progressive retinal degeneration and ..
  20. SECOND MESSENGERS IN THE RETINA
    RAJU VS RAJALA; Fiscal Year: 2012
    ..Cones also are affected indirectly in diseases such as retinitis pigmentosa and directly in cone and cone-rod dystrophies...
  21. Unfolded Protein Response as a Therapeutic Target for ADRP Animal Models
    Marina Gorbatyuk; Fiscal Year: 2013
    ..is focused on the elucidation of the role of the Unfolded Protein Response (UPR) in autosomal dominant retinitis pigmentosa (ADRP) pathogenesis and development of the gene therapy based on modulation of the UPR signaling markers...
  22. CELLULAR MECHANISMS OF INHERITED RETINAL DEGENERATION
    Matthew M Lavail; Fiscal Year: 2013
    PROJECT SUMMARY/ABSTRACT The most common inherited human disorder causing blindness is retinitis pigmentosa, and the most common cause of blindness in persons over the age of 60 is age-related macular degeneration...
  23. Development of Small Heat Shock Proteins as Therapeutic Agents in the Eye
    JONATHAN MARK PETRASH; Fiscal Year: 2010
    ..vectors has been demonstrated to rescue phenotypic markers in a variety of disease models, including retinitis pigmentosa (RP) and aggregation-prone cataract mutants...
  24. Establishing a neuroprotection model in the nonhuman primate to support translati
    MATTHEW SWAN LAWRENCE; Fiscal Year: 2013
    ..kinase 1, are highly resistant to photoreceptor cell loss in the setting of models of retinal detachment, retinitis pigmentosa and age related macular degeneration (AMD), and retinal ganglion cells (RGCs) loss in disease models ..
  25. Phase 2 Study of High Dose DHA for the Treatment of X-Linked Retinitis Pigmentosa
    Dennis R Hoffman; Fiscal Year: 2013
    ..Based on Phase 1 clinical trial results, a high dose of dietary DHA shows promise in retarding progression of this blinding eye disease. ..
  26. Novel Adeno-Associated Viral Therapy for X-linked Retinitis Pigmentosa
    James M Wilson; Fiscal Year: 2010
    DESCRIPTION (provided by applicant): The goal of this project is to develop a gene therapeutic for retinitis pigmentosa (RP)...
  27. MEMBRANE BASIS OF VISUAL EXCITATION
    Michael F Brown; Fiscal Year: 2012
    ..Mutations of rhodopsin are implicated in macular degeneration and retinitis pigmentosa. In addition polyunsaturated lipids of the retinal disk membranes affect visual diseases...
  28. Oxidative damage and cone cell death in RP
    Peter A Campochiaro; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Retinitis pigmentosa (RP) is a group of diseases in which one of hundreds of different mutations leads to death of rods resulting in night blindness followed by gradual death of cones causing ..
  29. MEMBRANE FUSION IN RETINAL ROD OUTER SEGMENTS
    KATHLEEN BOESZEBATTAGLIA; Fiscal Year: 2012
    ..Specifically, they are the most prevalent cause of autosomal dominant retinitis pigmentosa (adRP) in the United States and Northern Europe;over 150 mutations within this gene result in a broad ..
  30. FASEB on Biology of Cilia and Flagella
    Bradley K Yoder; Fiscal Year: 2010
    ..Bardet- Biedl Syndrome, Meckel Syndrome, Primary Ciliary Dyskinesia, Joubert Syndrome, Alstrom Syndrome, Retinitis Pigmentosa, Nephronophthisis, and Polycystic Kidney Diseases (PKD) are disorders of the primary cilium...
  31. Mesenchymal Stem Cells for Treatment of Retinal Diseases
    Martin L Katz; Fiscal Year: 2011
    ..The results of these studies will be relevant to the treatment of diseases such as age-related macular degeneration, diabetic retinopathy, retinitis pigmentosa, and many other disorders affecting the retina and other tissues as well.
  32. Deciphering the Usher I protein interactome using a genetic approach
    Qing Y Zheng; Fiscal Year: 2013
    ..USH) is a clinically and genetically heterogeneous disorder characterized by congenital deafness and retinitis pigmentosa. It is the most common cause of deafness accompanied by blindness...
  33. Sphingolipid Metabolism and Signaling in the Retina
    Md Nawajes A Mandal; Fiscal Year: 2013
    ..forms of human retinal dystrophies including age-related macular degeneration, diabetic retinopathy, and retinitis pigmentosa. Mechanistic studies will likely identify novel pathways and novel targets for therapeutic intervention...
  34. Neuroprotective agents for retinal diseases
    CHRIS LINDSEY; Fiscal Year: 2012
    ..As current therapies for AMD are limited, and successful therapies for retinitis pigmentosa (RP) have yet to be identified, there remains a significant unmet need for novel therapeutic approaches to ..
  35. Investigating Regulation of Integral Membrane Protein Cofactor Biosynthesis using
    Ronald F Peck; Fiscal Year: 2011
    ..Disruptions in this balance are thought to be causative factors for diseases such as Alzheimer's and retinitis pigmentosa. The proposed project describes a multidisciplinary approach to characterize a novel mechanism for ..
  36. NEXT GENERATION SEQUENCING ADD-ON-PHARMACOGENOMICS RESEARCH NETWROK (PGRN)
    Elaine R Mardis; Fiscal Year: 2013
    ..samples for The Cancer Genome Atlas (TCGA), and will soon be applied to a set of 500 genes suspected in retinitis pigmentosa, as well as to our NHGRI-sponsored medical sequencing project to investigate GWAS peaks resulting from case/..
  37. Pharmacological Suppression of Rod Opsin as Therapy for Retinitis Pigmentosa
    SCOTT MCNEAR THACHER; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Retinitis pigmentosa (RP), a hereditary disease of the retina affecting 100,000 Americans, is the major cause of blindness in adults aged 25-60...
  38. Circadian Clock Function in the Mammalian Retina
    Christophe P Ribelayga; Fiscal Year: 2013
    ..Impairment of circadian rhythmicity in the retina has been linked to photoreceptor cell death and therefore this study will provide fundamental insights into the mechanisms that underlie retinal diseases such as retinitis pigmentosa.
  39. RPE MESSENGERS, TRANSCRIPTION AND PHOTORECEPTOR RENEWAL
    NICOLAS GUILLERMO BAZAN; Fiscal Year: 2013
    ..inflammatory and apoptotic signaling, relevant to dry forms of age-related macular degeneration (AMD), retinitis pigmentosa (RP) and choroidal neovascularization (CNV), as in the wet form of AMD...
  40. MOLECULAR STUDIES OF RETINAL DEGENERATION IN DROSOPHILA
    Nansi J Colley; Fiscal Year: 2013
    ..long-term objective is to understand the molecular genetics of hereditary human retinal diseases, such as retinitis pigmentosa (RP) and age-related macular degeneration (AMD). Our approach is to use Drosophila as a model system...
  41. Retinal degeneration caused by alterations in protein tyrosine O-sulfation
    Muayyad R Al-Ubaidi; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Research on retinitis pigmentosa (RP) and age related macular degeneration (AMD) has significantly advanced knowledge into their genetic causes...
  42. Investigation of autoimmune anti-retinal antibodies in diabetes
    John R Heckenlively; Fiscal Year: 2013
    ..For example, cystoid and other forms of retinal edema in patients with retinitis pigmentosa are consistently associated with circulating ARAs...
  43. MOLECULAR MECHANISMS OF PHOTORECEPTOR FUNCTION
    Barry E Knox; Fiscal Year: 2010
    ..The role of endoplasmic reticulum stress and the unfolded protein response (UPR) in autosomal dominant retinitis pigmentosa. a...
  44. Achromatopsia - Disease Mechanisms and Cone-Directed Gene Therapy
    Andras Komaromy; Fiscal Year: 2013
    ..cone rescue is of even greater importance in diseases where cones are affected secondarily, such as in retinitis pigmentosa (RP) and most forms of age-related macular degeneration (AMD), the leading cause of vision loss in people ..
  45. High Performance Multimodal Adaptive Optics Retinal Imaging
    R Daniel Ferguson; Fiscal Year: 2011
    ..diseases, including glaucoma, diabetic retinopathy (DR), age-related macular degeneration (AMD), and retinitis pigmentosa (RP)...
  46. Cilial dysfunction and pathogenesis of obesity
    Bradley K Yoder; Fiscal Year: 2010
    ..tube and limb patterning, and that cilia dysfunction is a causative factor in numerous diseases such as retinitis pigmentosa, polycystic kidney disease, and severe pancreatic and liver abnormalities...
  47. Endoplasmic Reticulum Stress in Retinal Degeneration
    Jonathan Lin; Fiscal Year: 2013
    ABSTRACT The most common cause of inherited blindness is retinitis pigmentosa (RP), a family of diseases with various forms of inheritance caused by mutations in more than 45 genes...
  48. Molecular and Physiological Function of the Tubby Gene Family
    Juergen K Naggert; Fiscal Year: 2013
    ..Polymorphisms in the TUB gene have been shown to be associated with obesity, and mutations in TULP1 cause retinitis pigmentosa and Leber's Congenital Amaurosis in human populations...
  49. Regulation of RPE phagocytosis via avb5 integrin
    Silvia C Finnemann; Fiscal Year: 2012
    ..to incurable human blinding diseases affecting millions, including age-related macular degeneration and retinitis pigmentosa. Identifying the contributions of the RPE to the fundamental retinal process of outer segment renewal is ..
  50. Evaluation of stem cell-derived retinal pigment epithelial cells for retinal dise
    MARTHA D NEURINGER; Fiscal Year: 2013
    ..These conditions, which include age-related macular degeneration and retinitis pigmentosa, are characterized by progressive loss of cells in the outer retina...
  51. Photoreceptor Integrity Software
    Timothy J Holmes; Fiscal Year: 2012
    ..vision loss in many predominant conditions such as age-related macular degeneration, geographic atrophy and retinitis pigmentosa. The software will help researchers characterize and study the progression and pathophysiology of these ..
  52. Models of Retinal Degeneration
    Matthew M Lavail; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): The most common form of inherited human blindness is retinitis pigmentosa, a family of disorders in which photoreceptor cells of the retina progressively degenerate and disappear over a period of ..
  53. A model of neuronal cell development and differentiation: Mouse rod photoreceptor
    Judith Mosinger Ogilvie; Fiscal Year: 2010
    ..by early-onset, rapid degeneration of rod photoreceptors, was the first identified animal model of retinitis pigmentosa. Interestingly, rd1 rods show developmental defects, including failure to undergo normal synaptogenesis and ..
  54. Regulation of Rhodopsin Expression
    Donald J Zack; Fiscal Year: 2012
    ..altered forms of three pre-RNA processing factors (PRPF 3, 8 and 31) that when altered in humans cause retinitis pigmentosa. Together, these studies will hopefully provide new insights into the mechanisms regulating photoreceptor ..
  55. Advanced Engineering Development of a Chronic Retinal Implant
    JOHN L contact WYATT; Fiscal Year: 2010
    ..The goal is to restore a limited but useful level of vision to patients blind with retinitis pigmentosa or macular degeneration...
  56. Training in Clinical Trials for Subjects with Low Vision
    Ava K Bittner; Fiscal Year: 2011
    ..Negative psychological states such as distress, anxiety and depression are common in retinitis pigmentosa (RP) due to the chronic, slowly progressive nature of this disabling disease...
  57. Compacted DNA Nanoparticles for Ocular Therapy
    Muna I Naash; Fiscal Year: 2013
    ..the subretinal space, and mediates appreciable structural and functional rescue in mouse models of retinitis pigmentosa (RP, Rds+/-), Leber's congenital amaurosis (LCA, Rpe65-/-), and Stargardt's disease (STGD1, Abca4-..
  58. MerTK regulation of the PTTG and RPE phagocytosis
    Qingxian Lu; Fiscal Year: 2012
    ..MerTK knockout mice develop autoimmune disease, retinitis pigmentosa (RP) in adults with characterization of defective phagocytosis of the apoptotic lymphocytes and spent ..
  59. Fo Motor Mechanisms that Power FoF1 ATP Synthesis
    Wayne D Frasch; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Ataxia, Leigh syndrome, retinitis pigmentosa, muscle weakness and familial bilateral striatal necrosis can result from damage to the genes that encode FoF1 ATP synthase subunits...
  60. Structure &Function of Ganglion-Cell Photoreceptors Contributing to Form Vision
    MAUREEN ESTRELLITA ESTEVEZ; Fiscal Year: 2013
    ..new light on residual visual capacities in ocularly blind patients with outer retinal diseases, such as retinitis pigmentosa, age-related macular degeneration or Leber's congenital amaurosis, in which the inner retina is ..
  61. RDS mutations: Gene therapy for ADRP, macular degeneration and pattern dystrophy
    Alfred S Lewin; Fiscal Year: 2010
    ..in the RDS/peripherin gene which lead to pattern dystrophy, macular degeneration and autosomal dominant retinitis pigmentosa (ADRP)...
  62. Rhodopsin Gene Correction and Gene Knockout in Rod Cells
    John H Wilson; Fiscal Year: 2013
    ..mutations in the rhodopsin gene cause the most common form of the most common hereditary blinding disease, retinitis pigmentosa (RP)...
  63. Pluripotent Adult Spermatogonial Stem Cells: Prospective for Retinal Degeneration
    Nady Golestaneh; Fiscal Year: 2010
    ..The neural retina is subject to a number of degenerative conditions, including retinitis pigmentosa, age-related macular degeneration, and glaucoma...
  64. X-LINKED OCULAR ALBINISM & RETINITIS PIGMENTOSA
    Anand Swaroop; Fiscal Year: 1993
    ..basis of mutations responsible for two inherited X- linked eye diseases - Ocular Albinism (OA1) and Retinitis Pigmentosa (RP2) which are localized on the short arm of X- chromosome...
  65. Conferene on the basic cell and molecular biology of cilia and flagella as relate
    Joel Rosenbaum; Fiscal Year: 2007
    ..Another example is Retinitis Pigmentosa; although it has been known for decades that a cilium gives rise to the rod outer segments of the retina, ..
  66. PHYSIOLOGY AND PATHOPHYSIOLOGY OF PHOTORECEPTORS
    TIMOTHY KRAFT; Fiscal Year: 2002
    ..well as the tens of thousands of younger Americans afflicted with inherited retinal degenerations such as retinitis pigmentosa (RP)...
  67. Modifiable Risk Factors for CME in Retinitis Pigmentosa
    Michael A Sandberg; Fiscal Year: 2010
    b>Retinitis pigmentosa is a hereditary retinal degeneration that leads to loss of night vision, side vision, and eventually most of central vision...
  68. GENETICS OF RETINITIS PIGMENTOSA 1 (RP1)
    Jian Zuo; Fiscal Year: 2004
    ..Description): This application focuses on elucidating the normal functions of a recently cloned human gene, retinitis pigmentosa 1 (RP1), and the mechanisms by which the mutant forms of the RP1 gene cause retinal degeneration...
  69. PHYSICAL MAP OF RP2 AND RP3 LOCI ON HUMAN X-CHROMOSOME
    BRATIN SAHA; Fiscal Year: 1990
    ..These physical mapping data will then be utilized to construct new probes for the diagnosis and eventual cloning of the XLRP gene(s)...
  70. Photoreceptor Degeneration Assay-Transgenic Xenopus(RMI)
    Nicholas Marsh Armstrong; Fiscal Year: 2005
    ..laevis in which transgenes both cause rod photoreceptors to degenerate in a manner that resemble human retinitis pigmentosa as well as report the viability of photoreceptors externally and in live animals...
  71. Assembly of the AI5-beta Group I Intron RNP
    Edward Turk; Fiscal Year: 2007
    ..Defects in RNP biogenesis are responsible for retinitis pigmentosa and spinal muscular atrophy, both of which are human diseases characterized by tissue-specific degeneration ..
  72. PROTEIN ISOPRENYLATION IN HEREDITARY RETINOPATHY
    Douglas Andres; Fiscal Year: 2000
    b>Retinitis pigmentosa is the most prevalent hereditary retinopathy of man, currently estimated to affect up to 1.5 million people...
  73. Pharmacokinetics of Therapeutic Nanoparticles in the CNS
    James McGinnis; Fiscal Year: 2009
    ..retina, another part of the CNS, also occurs in many diseases including Age Related Macular Degeneration, Retinitis Pigmentosa, Diabetic Retinopathy, etc...
  74. MOLECULAR BASIS OF SYNDROMIC RETINITIS PIGMENTOSA
    Susan Hayflick; Fiscal Year: 1999
    The aim of this project is to clone and characterize the gene for a form of syndromic retinitis pigmentosa (RP), called...