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Retinitis pigmentosa

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https://www.readbyqxmd.com/read/28644158/radiology-case-of-the-month-idiopathic-cd4-lymphocytopenia
#1
Chris Malone, Neel D Gupta, Amit Kothari, Enrique Palacios, Harold Neitzschman
A 39 year-old male with a history of diabetes, retinitis pigmentosa, and genital warts presented with intractable occipital headaches accompanied with nausea and vomiting. The patient had markedly depressed CD4 counts. Furthermore the patient tested negative for HIV and HTLV 1/2 and had normal immunoglobulin levels. During hospital course the patient underwent a lumbar puncture and multiple imaging exams, including both CT and MR. Except for occasional nausea and vomiting controlled by therapeutic lumbar punctures, phenergan, and dilaudid the patient's hospital course was uncomplicated...
May 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28636270/c-reactive-protein-and-progression-of-vision-loss-in-retinitis-pigmentosa
#2
Yusuke Murakami, Yasuhiro Ikeda, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Noriko Yoshida, Shoji Notomi, Toshio Hisatomi, Shigeo Yoshida, Tatsuro Ishibashi, Koh-Hei Sonoda
PURPOSE: Chronic inflammation is involved in retinitis pigmentosa (RP). We demonstrated previously that intraocular inflammatory levels, as measured by slit-lamp ophthalmoscopy or laser flare photometry, are inversely correlated with central visual function in patients with RP. Here, we investigated the relationship between serum high-sensitivity C-reactive protein (hs-CRP) and visual parameters in RP. METHODS: We studied 58 consecutive typical patients with RP <40 years old and 29 age- and gender-matched controls...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28632034/recombinant-human-nerve-growth-factor-treatment-promotes-photoreceptor-survival-in-the-retinas-of-rats-with-retinitis-pigmentosa
#3
Marta Sacchetti, Flavio Mantelli, Maria Luisa Rocco, Alessandra Micera, Laura Brandolini, Laura Focareta, Claudio Pisano, Luigi Aloe, Alessandro Lambiase
PURPOSE: Increasing evidence suggests that nerve growth factor (NGF) exerts protective effects against retinal degeneration in animal models of retinitis pigmentosa (RP). This study aims at investigating the effects of intravitreal injection of recombinant human NGF (rhNGF) on retinal photoreceptors apoptosis in an animal model of RP, the Royal College of Surgeons (RCS) rats. METHODS: Thirty-six RCS rats were treated with intravitreal injection of rhNGF or murine NGF (mNGF) or vehicle at 20 postnatal days (pd) and sacrificed at 40 pd...
March 1, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28630315/correction-for-koch-et-al-genetic-rescue-models-refute-nonautonomous-rod-cell-death-in-retinitis-pigmentosa
#4
(no author information available yet)
No abstract text is available yet for this article.
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28624313/eplerenone-a-new-treatment-for-an-old-problem-retinitis-pigmentosa-with-recalcitrant-macular-edema
#5
R Campos Polo, C Rubio Sánchez, D M García Guisado, M J Díaz Luque
CASE REPORT: The case involves a 35-year-old man, with a history of retinitis pigmentosa, who presented with a bilateral cystoid macular oedema associated with bilateral epiretinal membrane, which was resistant to treatment with oral acetazolamide and intravitreal bevacizumab. The treatment with oral eplerenone was able to improve the visual acuity and macular thickness of this patient. DISCUSSION: A variety of treatments have been proposed for the management of cystoid macular oedema, associated with retinitis pigmentosa, with variable results...
June 14, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28615682/improved-retinal-function-in-rcs-rats-after-suppressing-the-over-activation-of-mglur5
#6
Jiaman Dai, Yan Fu, Yuxiao Zeng, Shiying Li, Zheng Qin Yin
Müller cells maintain retinal synaptic homeostasis by taking up glutamate from the synaptic cleft and transporting glutamine back to the neurons. To study the interaction between Müller cells and photoreceptors, we injected either DL-α-aminoadipate or L-methionine sulfoximine-both inhibitors of glutamine synthetase-subretinally in rats. Following injection, the a-wave of the electroretinogram (ERG) was attenuated, and metabotropic glutamate receptor 5 (mGluR5) was activated. Selective antagonism of mGluR5 by 2-methyl-6-(phenylethynyl)-pyridine increased the ERG a-wave amplitude and also increased rhodopsin expression...
June 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28604982/edi-oct-evaluation-of-choroidal-thickness-in-retinitis-pigmentosa
#7
Andrea Sodi, Chiara Lenzetti, Vittoria Murro, Orsola Caporossi, Dario P Mucciolo, Daniela Bacherini, Francesca Cipollini, Ilaria Passerini, Gianni Virgili, Stanislao Rizzo
PURPOSE: To evaluate choroidal thickness (CT) in retinitis pigmentosa (RP) using enhanced depth imaging (EDI) optical coherence tomography (OCT). METHODS: A retrospective analysis of a group of patients with RP who underwent EDI-OCT was performed. Choroidal thickness measurements were compared with those of age- and sex-matched healthy subjects. In the RP group, the possible association between subfoveal CT and some clinical parameters (visual acuity, age, age at disease onset, duration of the disease, macular thickness, visual field loss, electroretinography [ERG]) was evaluated...
June 9, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28601586/evaluating-structural-progression-of-retinitis-pigmentosa-after-cataract-surgery
#8
Joaquin O De Rojas, Kaspar Schuerch, Priya M Mathews, Thiago Cabral, Albert Hazan, Janet Sparrow, Stephen H Tsang, Leejee H Suh
PURPOSE: To determine whether cataract surgery accelerates disease progression in retinitis pigmentosa (RP). DESIGN: Retrospective cohort study. METHODS: Seventy eyes of 40 patients with RP were categorized as having had phacoemulsification with intraocular lens implantation versus no cataract surgery at a single tertiary-level institution. Spectral domain optical coherence tomography (SD-OCT) was used to measure the ellipsoid zone (EZ) width, which has been demonstrated to be a reliable marker of RP severity, at baseline and throughout follow-up (median 768 days)...
June 7, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28596918/physical-activity-and-quality-of-life-in-retinitis-pigmentosa
#9
Joshua D Levinson, Ethan Joseph, Laura A Ward, Joe R Nocera, Machelle T Pardue, Beau B Bruce, Jiong Yan
PURPOSE: Aerobic exercise has been found to be neuroprotective in animal models of retinal degeneration. This study aims to report physical activity levels in patients with RP and investigate the relationship between physical activity and vision-related quality-of-life (QOL). MATERIALS AND METHODS: A retrospective study of adult patients with RP examined in 2005-2014. Physical activity levels were assessed using the Godin Exercise Questionnaire. The NEI-Visual Function Questionaire-25 (VFQ-25), SF-36 General Health survey, and Pepper Assessment Tool for Disability (PAT-D) were administered...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28583373/mechanisms-of-mutant-pde6-proteins-underlying-retinal-diseases
#10
Kota N Gopalakrishna, Kimberly Boyd, Nikolai O Artemyev
Mutations in PDE6 genes encoding the effector enzymes in rods and cones underlie severe retinal diseases including retinitis pigmentosa (RP), autosomal dominant congenital stationary night blindness (adCSNB), and achromatopsia (ACHM). Here we examined a spectrum of pathogenic missense mutations in PDE6 using the system based on co-expression of cone PDE6C with its specialized chaperone AIPL1 and the regulatory Pγ subunit as a potent co-chaperone. We uncovered two mechanisms of PDE6C mutations underlying ACHM: (a) folding defects leading to expression of catalytically inactive proteins and (b) markedly diminished ability of Pγ to co-chaperone mutant PDE6C proteins thereby dramatically reducing the levels of functional enzyme...
June 2, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28580724/melatonin-delays-photoreceptor-degeneration-in-a-mouse-model-of-autosomal-recessive-retinitis-pigmentosa
#11
Xiao-Jian Xu, Shu-Min Wang, Ying Jin, Yun-Tao Hu, Kang Feng, Zhi-Zhong Ma
Retinitis pigmentosa (RP) comprises a group of incurable inherited retinal degenerations. Targeting common processes, instead of mutation specific treatment, has proven to be an innovative strategy to combat debilitating retinal degeneration. Growing evidence indicates that melatonin possesses a potent activity against neurodegenerative disorders by mitigating cell damage associated with apoptosis and inflammation. Given the pleiotropic role of melatonin in central nervous system, the aim of the present study was to investigate whether melatonin would afford protection against retinal degeneration in autosomal recessive RP (arRP)...
June 5, 2017: Journal of Pineal Research
https://www.readbyqxmd.com/read/28574477/utilizing-zebrafish-visual-behaviors-in-drug-screening-for-retinal-degeneration
#12
REVIEW
Logan Ganzen, Prahatha Venkatraman, Chi Pui Pang, Yuk Fai Leung, Mingzhi Zhang
Zebrafish are a popular vertebrate model in drug discovery. They produce a large number of small and rapidly-developing embryos. These embryos display rich visual-behaviors that can be used to screen drugs for treating retinal degeneration (RD). RD comprises blinding diseases such as Retinitis Pigmentosa, which affects 1 in 4000 people. This disease has no definitive cure, emphasizing an urgency to identify new drugs. In this review, we will discuss advantages, challenges, and research developments in using zebrafish behaviors to screen drugs in vivo...
June 2, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28574003/antiretinal-antibody-proven-autoimmune-retinopathy
#13
Sharanya Abraham, S Sudharshan, Muna Bhende, Sudha K Ganesh, Sriram Gopal
A young female presented with bilateral subacute onset of progressive decrease in night vision and reduced peripheral field of vision. The short duration and rapid progression of symptoms along with the lack of family history of night blindness prompted a diagnosis of autoimmune retinopathy (AIR). Fundus fluorescein angiography, optical coherence tomography, visual fields, and electroretinogram were suggestive of AIR. A differential diagnosis of retinitis pigmentosa (RP) was also made. Antiretinal autoantibodies were detected in the blood sample...
May 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28570634/neuroprotective-effect-of-bilberry-extract-in-a-murine-model-of-photo-stressed-retina
#14
Hideto Osada, Tomohiro Okamoto, Hirohiko Kawashima, Eriko Toda, Seiji Miyake, Norihiro Nagai, Saori Kobayashi, Kazuo Tsubota, Yoko Ozawa
Excessive exposure to light promotes degenerative and blinding retinal diseases such as age-related macular degeneration and retinitis pigmentosa. However, the underlying mechanisms of photo-induced retinal degeneration are not fully understood, and a generalizable preventive intervention has not been proposed. Bilberry extract is an antioxidant-rich supplement that ameliorates ocular symptoms. However, its effects on photo-stressed retinas have not been clarified. In this study, we examined the neuroprotective effects of bilberry extract against photo-stress in murine retinas...
2017: PloS One
https://www.readbyqxmd.com/read/28569420/rhodopsin-t17m-mutant-inhibits-complement-c3-secretion-in-retinal-pigment-epithelium-via-ros-induced-downregulation-of-twist1
#15
Siqi Xiong, Yixin Yu, Xiaoyun Zhou, Xiaobo Xia, Haibo Jiang
Rhodopsin mutations cause autosomal dominant form of retinitis pigmentosa (RP). T17M rhodopsin predisposes cells to endoplasmic reticulum stress induced apoptosis. However, the pathogenic role of T17M rhodopsin in RP is not completely understood. Complement C3 has a protective role in RP pathogenesis. This study aimed to investigate whether T17M rhodopsin regulates C3 secretion in retinal pigment epithelium. The human retinal pigment epithelial cell line (ARPE-19) was engineered to overexpress wide-type (WT) and T17M rhodopsin...
June 1, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28566226/optimization-of-retinal-gene-therapy-for-x-linked-retinitis-pigmentosa-due-to-rpgr-mutations
#16
William A Beltran, Artur V Cideciyan, Shannon E Boye, Guo-Jie Ye, Simone Iwabe, Valerie L Dufour, Luis Felipe Marinho, Malgorzata Swider, Mychajlo S Kosyk, Jin Sha, Sanford L Boye, James J Peterson, C Douglas Witherspoon, John J Alexander, Gui-Shuang Ying, Mark S Shearman, Jeffrey D Chulay, William W Hauswirth, Paul D Gamlin, Samuel G Jacobson, Gustavo D Aguirre
X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is an early onset and severe cause of blindness. Successful proof-of-concept studies in a canine model have recently shown that development of a corrective gene therapy for RPGR-XLRP may now be an attainable goal. In preparation for a future clinical trial, we have here optimized the therapeutic AAV vector construct by showing that GRK1 (rather than IRBP) is a more efficient promoter for targeting gene expression to both rods and cones in non-human primates...
May 26, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28561452/optical-coherence-tomography-angiography-of-the-macular-microvasculature-changes-in-retinitis-pigmentosa
#17
Yoshito Koyanagi, Yusuke Murakami, Jun Funatsu, Masato Akiyama, Shunji Nakatake, Kohta Fujiwara, Takashi Tachibana, Shintaro Nakao, Toshio Hisatomi, Shigeo Yoshida, Tatsuro Ishibashi, Koh-Hei Sonoda, Yasuhiro Ikeda
PURPOSE: To investigate the macular microvasculature changes by optical coherence tomography angiography (OCTA) and analyse the correlation between these changes and central visual function in patients with retinitis pigmentosa (RP). METHODS: We measured the area of the foveal avascular zone (FAZ) and the foveal and parafoveal flow density (FFD and PFD, respectively) in the superficial (S) and deep (D) retinal plexus by OCTA (AngioVue) and compared these values between 73 RP patients and 36 healthy controls...
May 31, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28549772/codon-optimized-rpgr-improves-stability-and-efficacy-of-aav8-gene-therapy-in-two-mouse-models-of-x-linked-retinitis-pigmentosa
#18
M Dominik Fischer, Michelle E McClements, Cristina Martinez-Fernandez de la Camara, Julia-Sophia Bellingrath, Daniyar Dauletbekov, Simon C Ramsden, Doron G Hickey, Alun R Barnard, Robert E MacLaren
X-linked retinitis pigmentosa (XLRP) is generally a severe form of retinitis pigmentosa, a neurodegenerative, blinding disorder of the retina. 70% of XLRP cases are due to mutations in the retina-specific isoform of the gene encoding retinitis pigmentosa GTPase regulator (RPGR(ORF15)). Despite successful RPGR(ORF15) gene replacement with adeno-associated viral (AAV) vectors being established in a number of animal models of XLRP, progression to human trials has not yet been possible. The inherent sequence instability in the purine-rich region of RPGR(ORF15) (which contains highly repetitive nucleotide sequences) leads to unpredictable recombination errors during viral vector cloning...
May 24, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28549094/a-novel-dominant-mutation-in-sag-the-arrestin-1-gene-is-a-common-cause-of-retinitis-pigmentosa-in-hispanic-families-in-the-southwestern-united-states
#19
Lori S Sullivan, Sara J Bowne, Daniel C Koboldt, Elizabeth L Cadena, John R Heckenlively, Kari E Branham, Dianna H Wheaton, Kaylie D Jones, Richard S Ruiz, Mark E Pennesi, Paul Yang, David Davis-Boozer, Hope Northrup, Vsevold V Gurevich, Rui Chen, Mingchu Xu, Yumei Li, David G Birch, Stephen P Daiger
Purpose: To identify the causes of autosomal dominant retinitis pigmentosa (adRP) in a cohort of families without mutations in known adRP genes and consequently to characterize a novel dominant-acting missense mutation in SAG. Methods: Patients underwent ophthalmologic testing and were screened for mutations using targeted-capture and whole-exome next-generation sequencing. Confirmation and additional screening were done by Sanger sequencing. Haplotypes segregating with the mutation were determined using short tandem repeat and single nucleotide variant polymorphisms...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28548648/electronic-retinal-implants-and-artificial-vision-journey-and-present
#20
REVIEW
J O Mills, A Jalil, P E Stanga
Retinitis pigmentosa and age-related macular degeneration are two significant causes of severe visual dysfunction. In both, the retinal photoreceptors degenerate, preventing successful conversion of light into electrical energy that is interpreted in the visual cortex as visual function. Artificial vision or visual function began over two centuries ago with the idea of creating artificial light pulses, or phosphenes, through cortical stimulation. The pursuit is now on to improve artificial visual function. Two retinal implants appear the most likely to succeed in the future having undergone multicentre human trials: the Argus II electronic epiretinal device (Second Sight Medical Products, CA, USA) and Alpha-IMS electronic subretinal device (Retina Implant AG, Germany)...
May 26, 2017: Eye
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