Database : MEDLINE
Search on : Retinitis and Pigmentosa [Words]
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[PMID]: 29321376
[Au] Autor:Rajagopal R; Zhang S; Wei X; Doggett T; Adak S; Enright J; Shah V; Ling G; Chen S; Yoshino J; Hsu FF; Semenkovich CF
[Ad] Address:Department of Ophthalmology and Visual Sciences.
[Ti] Title:Retinal de novo lipogenesis coordinates neurotrophic signaling to maintain vision.
[So] Source:JCI Insight;3(1), 2018 Jan 11.
[Is] ISSN:2379-3708
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Membrane lipid composition is central to the highly specialized functions of neurological tissues. In the retina, abnormal lipid metabolism causes severe forms of blindness, often through poorly understood neuronal cell death. Here, we demonstrate that deleting the de novo lipogenic enzyme fatty acid synthase (FAS) from the neural retina, but not the vascular retina, results in progressive neurodegeneration and blindness with a temporal pattern resembling rodent models of retinitis pigmentosa. Blindness was not rescued by protection from light-evoked activity; by eating a diet enriched in palmitate, the product of the FAS reaction; or by treatment with the PPARα agonist fenofibrate. Vision loss was due to aberrant synaptic structure, blunted responsiveness to glial-derived neurotrophic factor and ciliary neurotrophic factor, and eventual apoptotic cell loss. This progressive neurodegeneration was associated with decreased membrane cholesterol content, as well as loss of discrete n-3 polyunsaturated fatty acid- and saturated fatty acid-containing phospholipid species within specialized membrane microdomains. Neurotrophic signaling was restored by exogenous cholesterol delivery. These findings implicate de novo lipogenesis in neurotrophin-dependent cell survival by maintaining retinal membrane configuration and lipid composition, and they suggest that ongoing lipogenesis may be required to prevent cell death in many forms of retinopathy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:Publisher

  2 / 9120 MEDLINE  
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[PMID]: 29311491
[Au] Autor:Matsuo T; Uchida T; Yamashita K; Takei S; Ido D; Tanaka M; Oguchi M; Furukawa T
[Ad] Address:Ophthalmology, Okayama University Medical School and Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama-shi, Okayama 700-8558, Japan.
[Ti] Title:Visual evoked potential in rabbits' eyes with subretinal implantation by vitrectomy of Okayama University-type retinal prosthesis (OUReP ).
[So] Source:J Vet Med Sci;80(2):247-259, 2018 Feb 09.
[Is] ISSN:1347-7439
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:Okayama University-type retinal prosthesis (OUReP ) is a photoelectric dye-coupled polyethylene film which generates electric potential in response to light and stimulates nearby neurons. This study aims to test surgical feasibility for subretinal film implantation and to examine functional durability of films in subretinal space. Dye-coupled films were implanted subretinally by vitrectomy in the right eye of normal white rabbits: 8 rabbits for 1 month and 8 rabbits for 6 months. The implanted films were removed by vitrectomy in 4 of these 8 rabbits in 1-month or 6-month implantation group. The films were also implanted in 4 rhodopsin-transgenic retinal dystrophic rabbits. Visual evoked potential was measured before film implantation as well as 1 or 6 months after film implantation, or 1 month after film removal. The films were successfully implanted in subretinal space of retinal detachment induced by subretinal fluid injection with a 38G polyimide tip. The retina was reattached by fluid-air exchange in vitreous cavity, retinal laser coagulation, and silicone oil injection. The ratios of P amplitudes of visual evoked potential in the implanted right eye over control left eye did not show significant changes between pre-implantation and post-implantation or post-removal (paired t-test). In Kelvin probe measurements, 4 pieces each of removed films which were implanted for 1 or 6 months showed proportional increase of surface electric potential in response to increasing light intensity. The film implantation was safe and implanted films were capable of responding to light.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process
[do] DOI:10.1292/jvms.17-0422

  3 / 9120 MEDLINE  
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[PMID]: 29483694
[Au] Autor:Benfenati F; Lanzani G
[Ad] Address:Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Genoa, Italy. Fabio.Benfenati@iit.it.
[Ti] Title:New technologies for developing second generation retinal prostheses.
[So] Source:Lab Anim (NY);47(3):71-75, 2018 Mar.
[Is] ISSN:1548-4475
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Inherited or age-dependent retinal dystrophies such as Retinitis pigmentosa (RP) and macular degeneration (MD) are among the most prevalent causes of blindness. Despite enormous efforts, no established pharmacological treatment to prevent or cure photoreceptor degeneration has been identified. Given the relative survival of the inner retina, attempts have been made to restore vision with optogenetics or with retinal neuroprostheses to allow light-dependent stimulation of the inner retinal network. While microelectrode and photovoltaic devices based on inorganic technologies have been proposed and in many cases implanted in RP patients, a new generation of prosthetics based on organic molecules, such as organic photoswitches and conjugated polymers, is demonstrating an unexpected potential for visual rescue and intimate interactions with functioning tissue. Organic devices are starting a new era of tissue electronics, in which light-sensitive molecules and live tissues integrate and tightly interact, producing a new ecosystem of organic prosthetics and intelligent biotic/abiotic interfaces. In addition to the retina, the applications of these interfaces might be extended in the future to other biomedical fields.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Data-Review
[do] DOI:10.1038/s41684-018-0003-1

  4 / 9120 MEDLINE  
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[PMID]: 28456785
[Au] Autor:Huang H; Wang Y; Chen H; Chen Y; Wu J; Chiang PW; Fan N; Su Y; Deng J; Chen D; Li Y; Zhang X; Zhang M; Liang S; Banerjee S; Qi M; Liu X
[Ad] Address:BGI-Shenzhen, Shenzhen, China.
[Ti] Title:Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
[So] Source:Oncotarget;8(21):35176-35183, 2017 May 23.
[Is] ISSN:1949-2553
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:As the most common inherited retinal degenerations, retinitis pigmentosa (RP) is clinically and genetically heterogeneous. Some of the RP genes are also associated with other retinal diseases, such as LCA (Leber's congenital amaurosis) and CORD (cone-rod dystrophy). Here, in our molecular diagnosis of 99 Chinese RP patients using targeted gene capture sequencing, three probands were found to carry mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA and CORD. By further clinical analysis, two probands were confirmed to be RP patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families. Our result not only expands the mutational spectrum of the RPGRIP1 gene but also gives supports to clinical diagnosis and molecular treatment of RP patients.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
High-Throughput Nucleotide Sequencing/methods
Leber Congenital Amaurosis/genetics
Mutation
Proteins/genetics
Retinitis Pigmentosa/genetics
[Mh] MeSH terms secundary: Adult
China
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
Pedigree
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Proteins); 0 (RPGRIP1 protein, human)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170501
[St] Status:MEDLINE
[do] DOI:10.18632/oncotarget.17052

  5 / 9120 MEDLINE  
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[PMID]: 29518884
[Au] Autor:Xie LL; Jiang B
[Ad] Address:Department of Ophthalmology, the Second Xiangya Hospital, Central South University, Changsha 410011, China.
[Ti] Title:[The relationship between necroptosis and blinding eye diseases].
[So] Source:Zhonghua Yan Ke Za Zhi;54(3):234-240, 2018 Mar 11.
[Is] ISSN:0412-4081
[Cp] Country of publication:China
[La] Language:chi
[Ab] Abstract:As a programmed cell death manner which is distinguished from apoptosis and autophagy, necroptosis is a newly discovered pathway of regulated necrosis that requires the protein receptor interacting protein kinases 1 and 3 and mixed lineage kinase domain-like protein. Necroptosis is mediated by death receptors, toll-like receptors and probably other mediators. Emerging evidences have delineated that necroptosis plays an important role in the occurrence and development of various blinding eye diseases. In this review, the related mechanism of necroptosis, the relationship between necroptosis and multiple blinding eye diseases, such as age-related macular degeneration, retinitis pigmentosa and glaucoma, and the potential therapeutic targets of necroptosis are discussed. .
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.3760/cma.j.issn.0412-4081.2018.03.018

  6 / 9120 MEDLINE  
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[PMID]: 29454993
[Au] Autor:Leibovitch M; Hanic-Joyce PJ; Joyce PBM
[Ad] Address:Department of Chemistry and Biochemistry and Centre for Structural and Functional Genomics, Concordia University, 7141 Sherbrooke St. W., Montréal H4B 1R6, Québec, Canada.
[Ti] Title:In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.
[So] Source:Biochim Biophys Acta;1866(4):527-540, 2018 Feb 16.
[Is] ISSN:0006-3002
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of the CCA (cytidine-cytidine-adenosine) sequence to the 3'-termini of tRNAs, have been linked to disease phenotypes including congenital sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD) or retinitis pigmentosa with erythrocyte microcytosis. The effects of these disease-linked mutations on the structure and function of tRNA-NT have not been explored. Here we use biochemical and biophysical approaches to study how five SIFD-linked amino acid substitutions (T154I, M158V, L166S, R190I and I223T), residing in the N-terminal head and neck domains of the enzyme, affect the structure and activity of human tRNA-NT in vitro. Our data suggest that the SIFD phenotype is linked to poor stability of the T154I and L166S variant proteins, and to a combination of reduced stability and altered catalytic efficiency in the M158 V, R190I and I223T variants.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher

  7 / 9120 MEDLINE  
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[PMID]: 29192808
[Au] Autor:Yusuf IH; Shanks ME; Clouston P; MacLaren RE
[Ad] Address:a Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences , Oxford University , Oxford, UK.
[Ti] Title:A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia.
[So] Source:Ophthalmic Genet;39(2):263-267, 2018 Apr.
[Is] ISSN:1744-5094
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:FLVCR1 (feline leukemia virus subgroup c receptor 1) is a transmembrane protein involved in the trafficking of intracellular heme. Homozygous variants in FLVCR1 have been described in association with a clinical syndrome of posterior column ataxia with retinitis pigmentosa (PCARP). Here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in FLVCR1 (c.1092 + 5G>A) without evidence of posterior column ataxia or cerebellar degeneration. We suggest an association between intronic splice-site variants in FLVCR1 and the absence of posterior column degeneration and suggest a hypothesis to explain this observation. Should this association be proven, it would provide valuable prognostic information for patients. Retinal degeneration appears to be the sole clinical manifestation of this FLVCR1 variant; gene therapy approaches using an adeno-associated viral vector with sub-retinal delivery may therefore represent a therapeutic approach to halting retinal degeneration in this patient group.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1080/13816810.2017.1408848

  8 / 9120 MEDLINE  
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[PMID]: 29450385
[Au] Autor:Macovei ML; Nica MA
[Ad] Address:Ophthalmology Department, "Dr. Carol Davila" Central Military Emergency University Hospital, Bucharest, Romania.
[Ti] Title:The effect of intravitreal bevacizumab in a rare case of retinal dystrophy with secondary cystoid macular edema.
[So] Source:Rom J Ophthalmol;61(2):123-127, 2017 Apr-Jun.
[Is] ISSN:2457-4325
[Cp] Country of publication:Romania
[La] Language:eng
[Ab] Abstract:The authors presented a clinical case of retinitis punctate albescens in a 26-year-old female patient, with a family history of typical retinitis pigmentosa (father) and bilateral cystoid macular edema treated with anti-VEGF (bevacizumab).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process

  9 / 9120 MEDLINE  
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[PMID]: 29305715
[Au] Autor:Kurata K; Hosono K; Hotta Y
[Ad] Address:Department of Ophthalmology, Hamamatsu University School of Medicine, 1-20-1 Handayama, Hamamatsu-shi, Higashi-ku, Shizuoka, 431-3192, Japan.
[Ti] Title:Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.
[So] Source:Jpn J Ophthalmol;62(2):186-193, 2018 Mar.
[Is] ISSN:1613-2246
[Cp] Country of publication:Japan
[La] Language:eng
[Ab] Abstract:PURPOSE: To assess the long-term clinical course of 2 patients with PRPF31-related retinitis pigmentosa (RP). PATIENTS AND METHODS: We clinically examined 2 unrelated patients with RP and collected peripheral blood samples from them. Ophthalmic examinations, including best-corrected visual acuity measurements, Goldmann perimetry, full-field electroretinography, fundus autofluorescence imaging, and optical coherence tomography, were also performed. The visual acuity and visual field were continuously monitored. To identify the causative mutations, 74 genes known to cause RP or Leber congenital amaurosis were examined via targeted next-generation sequencing. RESULTS: The clinical courses of both patients were similar. The onset of nyctalopia occurred in the first decade. Fundus examination showed typical RP. Although the patients' visual acuity was relatively preserved even into the fourth decade, the visual field area exhibited rapid deterioration in the mid-teens, with severe concentric constriction in the third decade. Mutation analysis revealed PRPF31 mutations as the cause for autosomal dominant RP in both patients. CONCLUSIONS: To the best of our knowledge, few reports of long-term observations pertaining to patients with PRPF31-related RP have been published. The findings reported herein, especially those relating to the progressive degeneration of the visual field, may ultimately play a role in the provision of high-quality counseling for patients with this condition.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process
[do] DOI:10.1007/s10384-017-0560-7

  10 / 9120 MEDLINE  
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[PMID]: 29500424
[Au] Autor:Noailles A; Maneu V; Campello L; Lax P; Cuenca N
[Ad] Address:Physiology, Genetics and Microbiology, University of Alicante, Alicante, Spain.
[Ti] Title:Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy.
[So] Source:Cell Death Dis;9(3):350, 2018 Mar 02.
[Is] ISSN:2041-4889
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Retinal neurodegenerative diseases involve a scenario of inflammation and cell death that leads to morphological alterations and visual impairment. Non-ocular inflammatory processes could affect neurodegenerative retinal disorders and their progression, at least in part by activating microglial cells and releasing pro-inflammatory cytokines. Our purpose was to study the consequences of a systemic inflammatory process in the progression of retinal degeneration in P23H rats, a retinitis pigmentosa (RP) model. In order to induce a mild chronic systemic inflammation, we administered low doses of lipopolysaccharide (LPS) from age P20 to P60 to dystrophic P23H rats and healthy SD rats. Visual responsiveness was assessed by electroretinography (ERG). The morphological state of the retinas was analyzed by fluorescent immunohistochemistry (IHC), evaluating the number, morphology, and connectivity of different neuronal populations by means of cell type-specific markers. Microglia density, distribution, and degree of activation were evaluated by IHC and flow cytometry. The expression levels of inflammation- and apoptosis-related genes were analyzed by qRT-PCR arrays. Low-dose LPS administration did not induce significant functional or morphological changes in the retina of SD rats, although at the molecular level, we detected expression changes in genes related to apoptosis. Otherwise, systemic injection of LPS into P23H rats induced a further deterioration in the ERG response, with greater loss of photoreceptors and worsening of synaptic connectivity, accompanied by increasing numbers of microglial cells, which also showed a more intense activation state. Several inflammation- and apoptosis-related genes were upregulated. Our results indicate that chronic exacerbation of the inflammatory response in response to LPS accelerates neurodegeneration in dystrophic P23H rats, suggesting that in patients with ocular neurodegenerative diseases, peripheral damage, as a systemic infection or chronic inflammatory process, could accelerate disease progression, and should be taken into account in order to select an appropriate therapy to revert, block or slow-down the degenerative process.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1038/s41419-018-0355-x


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