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Retinitis pigmentosa

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https://www.readbyqxmd.com/read/29321376/retinal-de-novo-lipogenesis-coordinates-neurotrophic-signaling-to-maintain-vision
#1
Rithwick Rajagopal, Sheng Zhang, Xiaochao Wei, Teresa Doggett, Sangeeta Adak, Jennifer Enright, Vaishali Shah, Guoyu Ling, Shiming Chen, Jun Yoshino, Fong-Fu Hsu, Clay F Semenkovich
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...
January 11, 2018: JCI Insight
https://www.readbyqxmd.com/read/29305715/long-term-clinical-course-of-2-japanese-patients-with-prpf31-related-retinitis-pigmentosa
#2
Kentaro Kurata, Katsuhiro Hosono, Yoshihiro Hotta
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...
January 5, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29305604/molecular-defects-of-the-disease-causing-human-arrestin-1-c147f-mutant
#3
Sergey A Vishnivetskiy, Lori S Sullivan, Sara J Bowne, Stephen P Daiger, Eugenia V Gurevich, Vsevolod V Gurevich
Purpose: The purpose of this study was to identify the molecular defect in the disease-causing human arrestin-1 C147F mutant. Methods: The binding of wild-type (WT) human arrestin-1 and several mutants with substitutions in position 147 (including C147F, which causes dominant retinitis pigmentosa in humans) to phosphorylated and unphosphorylated light-activated rhodopsin was determined. Thermal stability of WT and mutant human arrestin-1, as well as unfolded protein response in 661W cells, were also evaluated...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29304268/multimodal-imaging-including-optical-coherence-tomography-angiography-of-a-patient-with-argus-ii-retinal-prosthesis-one-year-after-implantation
#4
Dilek Güven, Mehmet Demir, Delil Özcan, Hakan Kaçar, Semra Tiryaki Demir, Saniye Üke Uzun
A 58-year-old man with end-stage retinitis pigmentosa (RP) and visual acuity of light perception in both eyes received simultaneous phacoemulsification with intraocular lens implantation and implantation of the Argus II Retinal Prosthesis System (Second Sight Medical Products, Sylmar, CA) to his right eye 1 year ago. He accomplished the fitting and rehabilitation sessions, and no extraocular or intraocular complications were encountered perioperatively, postoperatively, or during the follow-up. The patient used the prosthesis actively for 2...
January 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29295858/hif-1%C3%AE-stabilization-reduces-retinal-degeneration-in-a-mouse-model-of-retinitis-pigmentosa
#5
Lorena Olivares-González, Cristina Martínez-Fernández de la Cámara, David Hervás, José María Millán, Regina Rodrigo
Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies characterized by progressive and irreversible loss of vision due to rod and cone degeneration. Evidence suggests that an inappropriate oxygen level could contribute to its pathogenesis. Rod cell death could increase oxygen concentration, reduce hypoxia-inducible factor 1 (HIF-1α) and contribute to cone cell death. The purposes of this study were: 1) to analyze the temporal profile of HIF-1α, its downstream effectors VEGF, endothelin-1 (ET-1), iNOS, and glucose transporter 1 (GLUT1), and neuroinflammation in retinas of the murine model of rd10 (retinal degeneration 10) mice with RP; 2) to study oxygen bioavailability in these retinas; and 3) to investigate how stabilizing HIF-1α proteins with dimethyloxaloglycine (DMOG), a prolyl hydroxylase inhibitor, affects retinal degeneration, neuroinflammation, and antioxidant response in rd10 mice...
January 2, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29287849/a-novel-variant-in-the-cdh23-gene-is-associated-with-non-syndromic-hearing-loss-in-a-chinese-family
#6
Yuan Liang, Kangwei Wang, Qi Peng, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jiang Chang, Siping Li, Xiaomei Lu
OBJECTIVES: To explore the pathogenic causes of a proband who was diagnosed with non-syndromic hearing loss. METHODS: We performed targeted capture of 159 known deafness-related genes and next-generation sequencing in the proband who was tested negative for the twenty hotspot variants in four common deafness-related genes(GJB2, GJB3, SLC26A4 and MTRNR1); Clinical reassessments, including detailed audiological and ocular examinations were performed in the proband and his normal parents...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287847/targeted-next-generation-sequencing-identified-a-novel-mutation-in-myo7a-causing-usher-syndrome-type-1-in-an-iranian-consanguineous-pedigree
#7
Daniz Kooshavar, Masoumeh Razipour, Morteza Movasat, Mohammad Keramatipour
BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder. METHODS: Target region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29285067/morphologic-characteristics-and-clinical-significance-of-the-macular-sparing-area-in-patients-with-retinitis-pigmentosa-as-revealed-by-multicolor-imaging
#8
Guodong Liu, Qing Du, Khusbu Keyal, Fang Wang
Retinitis pigmentosa (RP) is an inherited retinal disease caused by the degeneration of photoreceptors and retinal pigment epithelium cells within the eye. The present study aimed to evaluate the effectiveness of multicolor imaging as a novel technique for the depiction of morphological features in the macular area of patients with RP. Additionally, the correlation between the size of the macular-sparing area and the best corrected visual acuity (BCVA), central visual field function and subfoveal choroidal thickness (SFCT) was analyzed...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29283788/investigating-the-disease-association-of-ush2a-p-c759f-variant-by-leveraging-large-retinitis-pigmentosa-cohort-data
#9
Mariana DuPont, Evan M Jones, Mingchu Xu, Rui Chen
No abstract text is available yet for this article.
December 28, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29281713/correlations-between-specific-patterns-of-spontaneous-activity-and-stimulation-efficiency-in-degenerated-retina
#10
Christine Haselier, Sonia Biswas, Sarah Rösch, Gabriele Thumann, Frank Müller, Peter Walter
Retinal prostheses that are currently used to restore vision in patients suffering from retinal degeneration are not adjusted to the changes occurring during the remodeling process of the retina. Recent studies revealed abnormal rhythmic activity in the retina of genetic mouse models of retinitis pigmentosa. Here we describe this abnormal activity also in a pharmacologically-induced (MNU) mouse model of retinal degeneration. To investigate how this abnormal activity affects the excitability of retinal ganglion cells, we recorded the electrical activity from whole mounted retinas of rd10 mice and MNU-treated mice using a microelectrode array system and applied biphasic current pulses of different amplitude and duration to stimulate ganglion cells electrically...
2017: PloS One
https://www.readbyqxmd.com/read/29281027/cas9-sgrna-selective-targeting-of-the-p23h-rhodopsin-mutant-allele-for-treating-retinitis-pigmentosa-by-intravitreal-aav9-php-b-based-delivery
#11
Serena G Giannelli, Mirko Luoni, Valerio Castoldi, Luca Massimino, Tommaso Cabassi, Debora Angeloni, Giancarlo Demontis, Letizia Leocani, Massimiliano Andreazzoli, Vania Broccoli
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of Retinitis Pigmentosa (RP), a rod photoreceptor degeneration that invariably causes vision loss. Specific disruption of the disease P23H RHO mutant while preserving the wild-type functional allele would be an invaluable therapy for this disease. However, various technologies tested in the past failed to achieve effective changes and consequently therapeutic benefits. We validated a CRISPR/Cas9 strategy to specifically inactivate the P23H RHO mutant, while preserving the wild-type (WT) allele in vitro...
December 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29276052/nonsyndromic-retinitis-pigmentosa-in-the-ashkenazi-jewish-population-genetic-and-clinical-aspects
#12
Adva Kimchi, Samer Khateb, Rong Wen, Ziqiang Guan, Alexey Obolensky, Avigail Beryozkin, Shoshi Kurtzman, Anat Blumenfeld, Eran Pras, Samuel G Jacobson, Tamar Ben-Yosef, Hadas Newman, Dror Sharon, Eyal Banin
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. DESIGN: Cohort study. PARTICIPANTS: Retinitis pigmentosa patients from 230 families of AJ origin. METHODS: Sanger sequencing was performed to detect specific founder mutations known to be prevalent in the AJ population. Ophthalmologic analysis included a comprehensive clinical examination, visual acuity (VA), visual fields, electroretinography, color vision testing, and retinal imaging by OCT, pseudocolor, and autofluorescence fundus photography...
December 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29260190/novel-mutations-in-prpf31-causing-retinitis-pigmentosa-identified-using-whole-exome-sequencing
#13
Xiaoqiang Xiao, Yingjie Cao, Zhun Zhang, Yanxuan Xu, Yuqian Zheng, Li Jia Chen, Chi Pui Pang, Haoyu Chen
Purpose: The purpose of this study was to investigate the disease-causing mutations for retinitis pigmentosa (RP) patients and function of mutations. Methods: We recruited RP families and sporadic RP patients, and performed whole-exome sequencing (WES) to screen for sequence variations. Subsequently, we investigated the expression of green fluorescent protein (GFP) merged expression vectors containing PRPF31 wild type (WT) and its variants. We determined protein stability by cycloheximide (CHX) treatment...
December 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29260108/unilateral-pigmented-paravenous-retinochoroidal-atrophy-with-retinitis-pigmentosa-in-the-contralateral-eye-a-case-report
#14
Shuichiro Aoki, Tatsuya Inoue, Mari Kusakabe, Masaya Fukushima, Kohdai Kitamoto, Asako Ogawa, Motoshi Yamamoto, Ryo Obata
Purpose: We describe a sporadic case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) with retinitis pigmentosa (RP) in the contralateral eye. Observations: a 24-year-old female aware of the narrowing of visual field was examined at our hospital. Funduscopic examination revealed left eye showing retinochroidal atrophy along the retinal veins with pigment accumulation while right eye showing peripheral diffuse retinal pigmented epithelium atrophy with bone spicule pigmentation...
December 2017: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29259736/synthesis-of-novel-selenides-bearing-benzenesulfonamide-moieties-as-carbonic-anhydrase-i-ii-iv-vii-and-ix-inhibitors
#15
Andrea Angeli, Damiano Tanini, Antonella Capperucci, Claudiu T Supuran
A series of novel selenides bearing benzenesulfonamide moieties was synthesized and investigated for the inhibition of five human (h) isoforms of zinc enzyme carbonic anhydrase (CA, EC 4.2.1.1), hCA I, II, IV, VII, and IX. These enzymes are involved in a variety of diseases, including glaucoma, retinitis pigmentosa, epilepsy, arthritis, and tumors. The investigated compounds showed potent inhibitory action against hCA II, VII, and IX, in the low nanomolar range, thus making them of interest for the development of isoform-selective inhibitors and as candidates for biomedical applications...
December 14, 2017: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29259527/%C3%A2-potential-of-gene-editing-and-induced-pluripotent-stem-cells-ipscs-in-treatment-of-retinal-diseases%C3%A2
#16
REVIEW
Katherine Chuang, Mark A Fields, Lucian V Del Priore
The advent of gene editing has introduced the ability to make changes to the genome of cells, thus allowing for correction of genetic mutations in patients with monogenic diseases. Retinal diseases are particularly suitable for the application of this new technology because many retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA), are monogenic. Moreover, gene delivery techniques such as the use of adeno-associated virus (AAV) vectors have been optimized for intraocular use, and phase III trials are well underway to treat LCA, a severe form of inherited retinal degeneration, with gene therapy...
December 2017: Yale Journal of Biology and Medicine
https://www.readbyqxmd.com/read/29248324/lethal-form-of-spinocerebellar-ataxia-type-7-with-early-onset-in-childhood
#17
G Gousse, H Patural, R Touraine, S Chabrier, E Rolland, J-C Antoine, L Perrin
Progressive cerebellar ataxias are well-known hereditary neurological disorders. Among them, spinocerebellar ataxia type 7 (SCA7) is inherited as an autosomal dominant trait and is ascribed to the expansion of a CAG trinucleotide repeat within the ATXN7 gene. An anticipation phenomenon can occur during paternal transmission and sometimes is responsible for a severe infantile form. The specificity of SCA7 is the retinal involvement with retinitis pigmentosa and cone rod dystrophy. We describe a familial form with two siblings who died of a severe infantile form...
December 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29242588/in-retinitis-pigmentosa-trkc-t1-dependent-vectorial-erk-activity-upregulates-glial-tnf-%C3%AE-causing-selective-neuronal-death
#18
Alba Galán, Sean Jmaeff, Pablo F Barcelona, Fouad Brahimi, Marinko V Sarunic, H Uri Saragovi
In some diseases the TrkC.T1 isoform is upregulated in glia, associated with glial TNF-α production and neuronal death. What remains unknown are the activating signals in glia, and how paracrine signals may be selective for a targeted neuron while sparing other proximate neurons. We studied these questions in the retina, where Müller glia contacts photoreceptors on one side and retinal ganglion cells on the other. In a mutant Rhodopsin mouse model of retinitis pigmentosa (RP) causing progressive photoreceptor death-but sparing retinal ganglion cells-TrkC...
December 14, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29232904/an-expanded-multi-organ-disease-phenotype-associated-with-mutations-in-yars
#19
Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, Deborah Nickerson, Michael J Bamshad, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P M Cremers, Lisbeth Tranebjærg
Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease...
December 11, 2017: Genes
https://www.readbyqxmd.com/read/29232624/genomic-form-of-rhodopsin-dna-nanoparticles-rescued-autosomal-dominant-retinitis-pigmentosa-in-the-p23h-knock-in-mouse-model
#20
Rajendra Narayan Mitra, Min Zheng, Ellen R Weiss, Zongchao Han
Retinitis pigmentosa (RP) is a group of inherited retinal degenerative conditions and a leading cause of irreversible blindness. 25%-30% of RP cases are caused by inherited autosomal dominant (ad) mutations in the rhodopsin (Rho) protein of the retina, which impose a barrier for developing therapeutic treatments for this genetically heterogeneous disorder, as simple gene replacement is not sufficient to overcome dominant disease alleles. Previously, we have explored using the genomic short-form of Rho (sgRho) for gene augmentation therapy of RP in a Rho knockout mouse model...
December 5, 2017: Biomaterials
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