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Retinitis pigmentosa

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https://www.readbyqxmd.com/read/28937835/protective-effect-of-sulforaphane-against-retinal-degeneration-in-the-pde6-rd10-mouse-model-of-retinitis-pigmentosa
#1
Kai Kang, Minzhong Yu
PURPOSE: Retinitis pigmentosa (RP) is a group of inherited diseases characterized by the death of rod photoreceptors, followed by the death of cone photoreceptors, progressively leading to partial or complete blindness. Currently no specific treatment is available for RP patients. Sulforaphane (SFN) has been confirmed to be an effective antioxidant in the treatment of many diseases. In this study, we tested the therapeutic effects of SFN against photoreceptor degeneration in Pde6b(rd10) mice...
September 22, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28936059/a-case-of-unilateral-retinitis-pigmentosa-associated-with-full-thickness-macular-hole
#2
Lama Enani, Igor Kozak, Ehab Abdelkader
A 44-year-old Saudi female presented with poor right eye vision for 3 years. Visual acuity (VA) was 20/400 in the right eye and 20/20 in the left eye. Examination and imaging showed all the typical features of retinitis pigmentosa in the right eye associated with full thickness macular hole (FTMH) and an essentially normal left eye. The case underwent pars plana vitrectomy with internal limiting membrane peeling and gas tamponade that resulted in anatomical closure of the FTMH, but VA remained the same.
April 2017: Middle East African Journal of Ophthalmology
https://www.readbyqxmd.com/read/28927431/role-of-the-sigma-1-receptor-chaperone-in-rod-and-cone-photoreceptor-degenerations-in-a-mouse-model-of-retinitis-pigmentosa
#3
Huan Yang, Yingmei Fu, Xinying Liu, Pawan K Shahi, Timur A Mavlyutov, Jun Li, Annie Yao, Steven Z-W Guo, Bikash R Pattnaik, Lian-Wang Guo
BACKGROUND: Retinitis pigmentosa (RP) is the most common inherited retinal degenerative disease yet with no effective treatment available. The sigma-1 receptor (S1R), a ligand-regulated chaperone, emerges as a potential retina-protective therapeutic target. In particular, pharmacological activation of S1R was recently shown to rescue cones in the rd10 mouse, a rod Pde6b mutant that recapitulates the RP pathology of autonomous rod degeneration followed by secondary death of cones. The mechanisms underlying the S1R protection for cones are not understood in detail...
September 19, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28917417/subluxated-intraocular-lens-secondary-to%C3%A2-retinitis-pigmentosa-associated-zonulopathy-august-consultation-1
#4
Samuel Masket
No abstract text is available yet for this article.
August 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28912962/gene-panel-sequencing-in-brazilian-patients-with-retinitis-pigmentosa
#5
Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
BACKGROUND: Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tunnel Vision), eventual loss of central vision, and progressive night blindness. The characteristics of the fundus changes include bone-spicule formations, attenuated blood vessels, reduced and/or abnormal electroretinograms, changes in structure imaged by optical coherence tomography, and subjective changes in visual function...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28911151/expanding-the-phenotypic-and-genotypic-landscape-of-autoimmune-polyendocrine-syndrome-type-1
#6
Elizaveta M Orlova, Leila S Sozaeva, Maria A Kareva, Bergithe E Oftedal, Anette S B Wolff, Lars Breivik, Ekaterina Y Zakharova, Olga N Ivanova, Olle Kämpe, Ivan I Dedov, Per M Knappskog, Valentina A Peterkova, Eystein S Husebye
Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare. Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort...
September 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28910168/reduced-central-retinal-artery-blood-flow-is-related-to-impaired-central-visual-function-in-retinitis-pigmentosa-patients
#7
Samantha Kayser, Patricia Vargas, Deborah Mendelsohn, Jorge Han, Hua Bi, Alexandra Benavente, Ava K Bittner
PURPOSE: We evaluated the test-retest repeatability of blood flow velocities in the retrobulbar central retinal artery (CRA) and explored whether reduced blood flow is related to the degree of visual function loss in retinitis pigmentosa (RP) patients with wide range of disease severity. MATERIALS AND METHODS: We measured CRA peak systolic velocity (PSV) and end diastolic velocity (EDV) to calculate mean flow velocity (MFV) in 18 RP patients using color Doppler imaging with spectral flow Doppler (GE Logiq7 ultrasound) twice in each eye at each of two visits within a month...
September 14, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28906094/retinitis-pigmentosa-an-unusual-ocular-manifestation-in-a-patient-with-neurofibromatosis-type-1
#8
Emanuele Miraglia, Antonietta Moramarco, Daniela Bianchini, Chiara Iacovino, Stefano Calvieri, Sandra Giustini
No abstract text is available yet for this article.
October 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28900578/restoration-of-cone-photoreceptor-function-in-retinitis-pigmentosa
#9
REVIEW
Henry J Kaplan, Wei Wang, Douglas C Dean
No abstract text is available yet for this article.
September 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28900397/the-comparative-efficiency-of-intraperitoneal-and-intravitreous-injection-of-hydrogen-rich-saline-against-n-methyl-n-nitrosourea-induced-retinal-degeneration-a-topographic-study
#10
Ye Tao, Tao Chen, Wei Fang, Zhongjun Yan, Qinghua Yang, Yifei Huang, Linjun Yu, Lingling Fan
Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal diseases leading to blindness. The present study explored the protective effects of hydrogen rich saline (HRS) against the photoreceptor degeneration in the N-Methyl-N-nitrosourea (MNU) administrated rat, a pharmacologically induced RP model. The therapeutic effects of intraperitoneal (IP) and intravitreous (IV) injections of HRS on regional retina was quantified via topographic measurements. The MNU administrated rats received IV or IP injections of HRS, and then they were subjected to electroretinography, multi electrode array, histological and immunohistochemistry examinations...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28900214/structure-function-correlations-in-retinitis-pigmentosa-patients-with-partially-preserved-vision-a-voxel-based-morphometry-study
#11
Ana Rita Machado, Andreia Carvalho Pereira, Fábio Ferreira, Sónia Ferreira, Bruno Quendera, Eduardo Silva, Miguel Castelo-Branco
Retinitis Pigmentosa is a group of hereditary retinal dystrophy disorders associated with progressive peripheral visual field loss. The impact of this retinal loss in cortical gray matter volume has not been addressed before in Retinitis Pigmentosa patients with low vision. Voxel-based morphometry was applied to study whole brain gray matter volume changes in 27 Retinitis Pigmentosa patients with partially preserved vision and 38 age- and gender-matched normally sighted controls to determine whether peripheral visual loss can lead to changes in gray matter volume...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28894305/electroretinography-reveals-difference-in-cone-function-between-syndromic-and-nonsyndromic-ush2a-patients
#12
Jesse D Sengillo, Thiago Cabral, Kaspar Schuerch, Jimmy Duong, Winston Lee, Katherine Boudreault, Yu Xu, Sally Justus, Janet R Sparrow, Vinit B Mahajan, Stephen H Tsang
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28894166/flavonoid-allosteric-modulation-of-mutated-visual-rhodopsin-associated-with-retinitis-pigmentosa
#13
María Guadalupe Herrera-Hernández, Eva Ramon, Cecylia S Lupala, Mercè Tena-Campos, Juan J Pérez, Pere Garriga
Dietary flavonoids exhibit many biologically-relevant functions and can potentially have beneficial effects in the treatment of pathological conditions. In spite of its well known antioxidant properties, scarce structural information is available on the interaction of flavonoids with membrane receptors. Advances in the structural biology of a specific class of membrane receptors, the G protein-coupled receptors, have significantly increased our understanding of drug action and paved the way for developing improved therapeutic approaches...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28891332/subretinal-delivery-of-erythropoietin-alleviates-the-n-methyl-n-nitrosourea-induced-photoreceptor-degeneration-and-visual-functional-impairments-an-in-vivo-and-ex-vivo-study
#14
Ye Tao, Yue Wang, Zhao Ma, Liqiang Wang, Limin Qin, Lu Wang, Yi Fei Huang, Shizhong Zhang
Retinitis pigmentosa (RP) is a heterogeneous group hereditary retinal disease that is characterized by photoreceptor degeneration. The present study sought to explore the therapeutic effects of erythropoietin (EPO) on the N-methyl-N-nitrosourea (MNU)-induced photoreceptor degeneration. The MNU-administered mouse or normal control received a subretinal injection of EPO (at the dose of 10U). Twenty-four hours after EPO injection, the retinal EPO levels of experimental animals were quantified. Subsequently, the experimental animals were subjected to optokinetic tests, ERG examination, SD-OCT examination, histology assessment, and immunohistochemistry evaluation...
November 2017: Drug Delivery
https://www.readbyqxmd.com/read/28885670/novel-abca4-mutation-leads-to-loss-of-a-conserved-c-terminal-motif-implications-for-predicting-pathogenicity-based-on-genetic-testing
#15
Nutsuchar Wangtiraumnuay, Jenina Capasso, Mai Tsukikawa, Alex Levin, Esther Biswas-Fiss
PURPOSE: Mutations in the ABCA4 gene result in a broad spectrum of severe retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy. In addition to the detection of well-characterized mutations, genetic testing frequently yields novel variants of unknown significance. The purpose of this report is to describe an approach to aid in the assessment of genetic variants of unknown significance. CASE REPORT: We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c...
September 8, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28877319/absence-of-sigma-1-receptor-accelerates-photoreceptor-cell-death-in-a-murine-model-of-retinitis-pigmentosa
#16
Jing Wang, Alan Saul, Xuezhi Cui, Penny Roon, Sylvia B Smith
Purpose: Sigma 1 Receptor (Sig1R) is a novel therapeutic target in neurodegenerative diseases, including retinal disease. Sig1R-/- mice have late-onset retinal degeneration with ganglion cell loss that worsens under stress. Whether Sig1R plays a role in maintaining other retinal neurons is unknown, but was investigated here using rd10 mice, a model of severe photoreceptor degeneration. Methods: Wild-type, rd10, and rd10/Sig1R-/- mice were subjected to ERG and spectral-domain optical coherence tomography (SD-OCT) to assess visual function/structure in situ...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28871101/retrospective-analysis-of-structural-disease-progression-in-retinitis-pigmentosa-utilizing-multimodal-imaging
#17
Thiago Cabral, Jesse D Sengillo, Jimmy K Duong, Sally Justus, Katherine Boudreault, Kaspar Schuerch, Rubens Belfort, Vinit B Mahajan, Janet R Sparrow, Stephen H Tsang
In this report, we assess the natural progression rate of retinitis pigmentosa (RP) over an average of three years using spectral-domain optical coherence tomography (SD-OCT) and short wavelength fundus autofluorescence (SW-AF). Measurement of the ellipsoid zone (EZ) line width and hyperautofluorescent ring diameters was performed in 81 patients with RP in a retrospective, longitudinal fashion. Rate of structural disease progression, symmetry between eyes, and test-retest variability were quantified. We observed on average, EZ-line widths decreased by 140 µm (5...
September 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28863407/high-symmetry-of-visual-acuity-and-visual-fields-in-rpgr-linked-retinitis-pigmentosa
#18
Julia-Sophia Bellingrath, G Alex Ochakovski, Immanuel P Seitz, Susanne Kohl, Eberhart Zrenner, Nicola Hanig, Holger Prokisch, Bernhard H Weber, Susan M Downes, Simon Ramsden, Robert E MacLaren, M Dominik Fischer
Purpose: Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene therapy. This study analyzed the utility of relevant clinical biomarkers to assess symmetry and rate of progression in XLRP3. Methods: A retrospective, cross-sectional analysis of 50 XLRP3 patients extracted clinical data including visual acuity (VA), visual fields (I4e and III4e targets), foveal thickness, and ERG data points alongside molecular genetic data...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28860707/widening-use-of-dexamethasone-implant-for-the-treatment-of-macular-edema
#19
REVIEW
Vincenza Bonfiglio, Michele Reibaldi, Matteo Fallico, Andrea Russo, Alessandra Pizzo, Stefano Fichera, Carlo Rapisarda, Iacopo Macchi, Teresio Avitabile, Antonio Longo
Sustained-release intravitreal 0.7 mg dexamethasone (DEX) implant is approved in Europe for the treatment of macular edema related to diabetic retinopathy, branch retinal vein occlusion, central retinal vein occlusion, and non-infectious uveitis. The implant is formulated in a biodegradable copolymer to release the active ingredient within the vitreous chamber for up to 6 months after an intravitreal injection, allowing a prolonged interval of efficacy between injections with a good safety profile. Various other ocular pathologies with inflammatory etiopathogeneses associated with macular edema have been treated by DEX implant, including neovascular age-related macular degeneration, Irvine-Gass syndrome, vasoproliferative retinal tumors, retinal telangiectasia, Coats' disease, radiation maculopathy, retinitis pigmentosa, and macular edema secondary to scleral buckling and pars plana vitrectomy...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28858866/subretinal-injection-a-review-on-the-novel-route-of-therapeutic-delivery-for-vitreoretinal-diseases
#20
Yingqian Peng, Luosheng Tang, Yedi Zhou
Compared to intravitreal injection, subretinal injection has more direct effects on the targeting cells in the subretinal space, which provides a new therapeutic method for vitreoretinal diseases, especially when gene therapy and/or cell therapy is involved. To date, subretinal delivery has been widely applied by scientists and clinicians as a more precise and efficient route of ocular drug delivery for gene therapies and cell therapies including stem cells in many degenerative vitreoretinal diseases, such as retinitis pigmentosa, age-related macular degeneration, and Leber's congenital amaurosis...
September 1, 2017: Ophthalmic Research
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