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https://www.readbyqxmd.com/read/28717659/identification-and-characterization-of-variants-and-a-novel-4%C3%A2-bp-deletion-in-the-regulatory-region-of-six6-a-risk-factor-for-primary-open-angle-glaucoma
#1
Mohd Hussain Shah, Noemi Tabanera, Subbaiah Ramasamy Krishnadas, Manju R Pillai, Paola Bovolenta, Periasamy Sundaresan
BACKGROUND: Primary open-angle glaucoma (POAG) is a complex disease of multigenic inheritance and the most common subtype of glaucoma. SIX6 encodes a transcription factor involved in retina, optic nerve, and pituitary development. Previous studies showed a genetic association between the SIX6 locus and POAG, identifying risk alleles. Whether these alleles are present also in the south Indian population is unclear. METHODS: To address this question, the SIX6 gene and an already characterized and highly conserved SIX6 enhancer (Ch14:60974427-60974430) were sequenced in two south Indian cohorts, respectively, composed of 65/65 and 200/200 POAG cases/age-matched controls...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28715592/inter-relationship-of-arterial-supply-to-human-retina-choroid-and-optic-nerve-head-using-micro-perfusion-and-labeling
#2
Paula K Yu, Ian L McAllister, William H Morgan, Stephen J Cringle, Dao-Yi Yu
Purpose: The prevailing view is that the human retina is supplied by the central retinal artery (CRA), the short posterior ciliary arteries (SPCAs) support the choroid, and both the CRA and the SPCAs are so-called "end artery" systems. In this study, we investigate whether vascular connections among the retina, choroid, and the optic nerve head (ONH) exist, using selective cannulation and microperfusion-labeling techniques. Methods: The CRA and/or one or more of the SPCAs were selected for cannulation in 18 human donor eyes...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28715590/optical-coherence-tomography-features-preceding-the-onset-of-advanced-age-related-macular-degeneration
#3
Daniela Ferrara, Rachel E Silver, Ricardo N Louzada, Eduardo A Novais, Giliann K Collins, Johanna M Seddon
Purpose: Age-related macular degeneration (AMD) is a progressive disease with multifactorial etiology. There is a need to identify clinical features that are harbingers of advanced disease. We evaluated morphologic features of the retina and choroid on optical coherence tomography (OCT) to determine if they predict progression to advanced disease. Methods: Progressors transitioned from early or intermediate AMD to advanced disease (n = 40 eyes), and were matched on baseline AMD grade and follow-up interval to nonprogressors who did not develop advanced AMD (n = 40 eyes)...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28715391/isolation-of-primary-murine-retinal-ganglion-cells-rgcs-by-flow-cytometry
#4
Sumana R Chintalapudi, Need N Patel, Zachary K Goldsmith, Levon Djenderedjian, Xiang Di Wang, Tony N Marion, Monica M Jablonski, Vanessa M Morales-Tirado
Neurodegenerative diseases often have a devastating impact on those affected. Retinal ganglion cell (RGC) loss is implicated in an array of diseases, including diabetic retinopathy and glaucoma, in addition to normal aging. Despite their importance, RGCs have been extremely difficult to study until now due in part to the fact that they comprise only a small percentage of the wide variety of cells in the retina. In addition, current isolation methods use intracellular markers to identify RGCs, which produce non-viable cells...
July 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28711869/establishment-of-a-retinal-hypoxia-organ-culture-model
#5
S Schnichels, M Blak, J Hurst, T Dorfi, K U Bartz-Schmidt, F Ziemssen, M S Spitzer, M Schultheiss
Hypoxia plays an important role in several retinal diseases, especially in central retinal artery occlusion (CRAO). Although CRAO has been known for over a hundred years, no cure or sufficient treatment is available. Potential therapies are being evaluated in several in vivo models or primary cultures. However, in vivo models or primary cultures are very time-consuming, expensive, and furthermore several therapies or agents cannot be tested. Therefore, we aimed to develop a standardized organotypic ex vivo retinal hypoxia model...
July 15, 2017: Biology Open
https://www.readbyqxmd.com/read/28709891/neuroprotective-effects-of-methyl-3-4-dihydroxybenzoate-in-a-mouse-model-of-retinitis-pigmentosa
#6
Jia Zhang, Di Xu, Huan Ouyang, Songhui Hu, Ang Li, Huanmin Luo, Ying Xu
Retinitis pigmentosa is a photoreceptor-degenerative disease that is currently untreatable and eventually causes blindness. Methyl 3,4 dihydroxybenzoate (MDHB) is a small molecule that exerts neuroprotective effect in vitro. The present study tests whether MDHB protects the retina of rd10 mice, a model of retinitis pigmentosa. MDHB or equal volume of vehicle was intraperitoneally injected in rd10 mice daily from postnatal day 12 (P12) to P26. Retinal morphology was evaluated by immunostaining, and retinal function by electroretinogram (ERG) and by visual behavior...
July 11, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28709429/efficacy-of-rituximab-in-non-paraneoplastic-autoimmune-retinopathy
#7
Katherine Boudreault, Sally Justus, Jesse D Sengillo, Kaspar Schuerch, Winston Lee, Thiago Cabral, Stephen H Tsang
BACKGROUND: Autoimmune retinopathy (AIR) is a rare but potentially blinding condition that is often underdiagnosed. Common features in AIR presentation include rapidly progressive vision loss with abnormal electrophysiological responses of the retina associated with positive anti-retinal antibodies. AIR is also challenging to treat, and thus, the introduction of new potential therapeutic agents is welcomed. The goal of this communication is to assess the effects of rituximab infusions on electroretinogram (ERG) responses and visual function outcomes in patients with non-paraneoplastic autoimmune retinopathy (npAIR)...
July 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28709426/xue-fu-zhu-yu-decoction-protects-rats-against-retinal-ischemia-by-downregulation-of-hif-1%C3%AE-and-vegf-via-inhibition-of-rbp2-and-pkm2
#8
Shu-Qiu Tan, Xue Geng, Jorn-Hon Liu, Wynn Hwai-Tzong Pan, Li-Xiang Wang, Hui-Kang Liu, Lei Hu, Hsiao-Ming Chao
BACKGROUND: Retinal ischemia-related eye diseases result in visual dysfunction. This study investigates the protective effects and mechanisms of Xue-Fu-Zhu-Yu decoction (XFZYD) with respect to retinal ischemia. METHODS: Retinal ischemia (I) was induced in Wistar rats by a high intraocular pressure (HIOP) of 120 mmHg for 1 h, which was followed by reperfusion of the ischemic eye; the fellow untreated eye acted as a control. Electroretinogram (ERG), biochemistry and histopathology investigations were performed...
July 14, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28706438/genistein-suppresses-retinoblastoma-cell-viability-and-growth-and-induces-apoptosis-by-upregulating-mir-145-and-inhibiting-its-target-abce1
#9
Dong Wei, Lieying Yang, Bo Lv, Lijuan Chen
PURPOSE: Retinoblastoma is a rare malignancy in developing retina tissue in children with limited therapeutic options. Here we sought to investigate the potential clinical value of genistein, the phytoestrogen derived from the soybean with antioxidant activity, in this disease. METHODS: Retinoblastoma cells were treated with genistein. Colony formation capacity was measured with soft agar assay. MiRNA was identified with microarray. Post-transcriptional regulation of gene expression was determined with dual-luciferase reporter assay...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28706282/retinal-degeneration-in-progressive-supranuclear-palsy-measured-by-optical-coherence-tomography-and-scanning-laser-polarimetry
#10
Birthe Stemplewitz, Robert Kromer, Eik Vettorazzi, Ute Hidding, Andreas Frings, Carsten Buhmann
This cross-sectional study compared the retinal morphology between patients with progressive supranuclear palsy (PSP) and healthy controls. (The retinal nerve fiber layer (RNFL) around the optic disc and the retina in the macular area of 22 PSP patients and 151 controls were investigated by spectral domain optical coherence tomography (SD-OCT). Additionally, the RNFL and the nerve fiber index (NFI) were measured by scanning laser polarimetry (SLP). Results of RNFL measurements with SD-OCT and SLP were compared to assess diagnostic discriminatory power...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28705258/fate-bias-during-neural-regeneration-adjusts-dynamically-without-recapitulating-developmental-fate-progression
#11
Jeremy Ng Chi Kei, Peter David Currie, Patricia Regina Jusuf
BACKGROUND: Regeneration of neurons in the central nervous system is poor in humans. In other vertebrates neural regeneration does occur efficiently and involves reactivation of developmental processes. Within the neural retina of zebrafish, Müller glia are the main stem cell source and are capable of generating progenitors to replace lost neurons after injury. However, it remains largely unknown to what extent Müller glia and neuron differentiation mirror development. METHODS: Following neural ablation in the zebrafish retina, dividing cells were tracked using a prolonged labelling technique...
July 13, 2017: Neural Development
https://www.readbyqxmd.com/read/28704921/eys-mutations-causing-autosomal-recessive-retinitis-pigmentosa-changes-of-retinal-structure-and-function-with-disease-progression
#12
David B McGuigan, Elise Heon, Artur V Cideciyan, Rinki Ratnapriya, Monica Lu, Alexander Sumaroka, Alejandro J Roman, Vaishnavi Batmanabane, Alexandra V Garafalo, Edwin M Stone, Anand Swaroop, Samuel G Jacobson
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without a mammalian model of human EYS disease, there is limited understanding of details of disease expression and rates of progression of the retinal degeneration. We studied clinically and with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), and en face autofluoresence imaging, a cohort of 15 patients (ages 12-51 at first visit), some of whom had longitudinal data of function and structure...
July 12, 2017: Genes
https://www.readbyqxmd.com/read/28704441/a-comparison-of-sex-steroid-concentration-levels-in-the-vitreous-and-serum-of-patients-with-vitreoretinal-diseases
#13
Yuko Nishikawa, Seita Morishita, Taeko Horie, Masanori Fukumoto, Takaki Sato, Teruyo Kida, Hidehiro Oku, Jun Sugasawa, Tsunehiko Ikeda, Kimitoshi Nakamura
The purpose of this study was to compare steroid hormone concentration levels in the vitreous and serum of vitreoretinal disease patients to elucidate the possibility of neurosteroid production in the retina. Serum and vitreous samples were collected from vitrectomy patients, and estradiol (E2) and testosterone (T) concentrations were measured using electro-chemiluminescence immunoassay. We measured E2 in epiretinal membrane (ERM, n = 14), macular hole (MH, n = 18), proliferative diabetic retinopathy (PDR, n = 20), and retinal detachment (RD, n = 19) cases, and T in ERM (n = 14), MH (n = 17), PDR (n = 13), and RD (n = 17) cases...
2017: PloS One
https://www.readbyqxmd.com/read/28704127/retinal-mirnas-variations-in-a-large-cohort-of-inherited-retinal-disease
#14
Xiu-Feng Huang, Zhi-Qin Huang, Xiao-Long Fang, Zhen-Ji Chen, Wan Cheng, Zi-Bing Jin
BACKGROUND: Although great efforts have been paid on identification of genetic predisposition in the inherited retinal disease (IRD), genetic causes of a large proportion of patients remain a mystery. This dilemma makes us attempt to speculate that genetic components other than coding genes might be an additional pool predisposing IRD. In this study, we aim to perform a mutational screening in a large cohort of IRD patients with a particular focus on retina-specific or abundant microRNAs (miRs)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28700348/mechanisms-of-phosphenes-in-irradiated-patients
#15
REVIEW
Thibaud Mathis, Stephane Vignot, Cecila Leal, Jean-Pierre Caujolle, Celia Maschi, Martine Mauget-Faÿsse, Laurent Kodjikian, Stéphanie Baillif, Joel Herault, Juliette Thariat
Anomalous visual perceptions have been reported in various diseases of the retina and visual pathways or can be experienced under specific conditions in healthy individuals. Phosphenes are perceptions of light in the absence of ambient light, occurring independently of the physiological and classical photonic stimulation of the retina. They are a frequent symptom in patients irradiated in the region of the central nervous system (CNS), head and neck and the eyes. Phosphenes have historically been attributed to complex physical phenomena such as Cherenkov radiation...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28700280/biologic-treatment-options-for-retinal-neovascularization-in-beh%C3%A3-et-s-disease
#16
Nikos N Markomichelakis, Evaggelia K Aissopou, Stelios Maselos, Ilknur Tugal-Tutkun, Petros P Sfikakis
PURPOSE: Relapsing ocular inflammation occurs in about 70% of patients with Behçet's disease (BD) and can lead to permanent loss of vision. Neovascularization of the optic disc (NVD) or elsewhere in the retina (NVE) is a relatively uncommon but severe complication that lacks standardized treatment. METHODS: We report on the therapeutic use of anti-TNF monoclonal antibodies for BD-associated NVD and NVE in one pediatric patient (subcutaneous adalimumab) and one young man (intravenous infliximab)...
July 12, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28700251/choroidal-and-retinal-anatomical-responses-following-systemic-corticosteroid-therapy-in-vogt-koyanagi-harada-disease-using-swept-source-optical-coherence-tomography
#17
Durgasri Jaisankar, Rajiv Raman, Hitesh R Sharma, Neha Khandelwal, Muna Bhende, Rupesh Agrawal, Sridharan Sudharshan, Jyotirmay Biswas
PURPOSE: To assess structural changes in retina and choroid after systemic corticosteroid therapy in Vogt-Koyanagi-Harada (VKH) disease using swept-source optical coherence tomography (SS-OCT). METHODS: SS-OCT was conducted before treatment and during first-month follow-up in 16 eyes treated with systemic corticosteroids for active VKH. Retina was divided into five zones depending on pretreatment choroidal thickness (CT) of <100, >100 to <200, >200 to <300, >300 to <400 and >400μm, and changes in retinal thickness and CT after treatment in these zones were compared with baseline...
July 12, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28697461/direct-induction-of-functional-neuronal-cells-from-fibroblast-like-cells-derived-from-adult-human-retina
#18
Lili Hao, Zhen Xu, Hui Sun, Wu Luo, Youchen Yan, Jing Wang, Jingyi Guo, Yizhi Liu, Shuyi Chen
Obtaining and manipulating neuronal cells are critical for neural biology basic mechanism studies and translational applications. Recent advances in protocol development and mechanism dissections have made direct induction of neuronal cells from other somatic cells (iN) a promising strategy for such purposes. In this study, we established a protocol to expand a population of fibroblast-like cells from adult human retinal tissues, which can be reprogrammed into iNs by forced expression of neurogenic transcription factors...
June 29, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28697326/laminin-dependent-interaction-between-astrocytes-and-microglia-a-role-in-retinal-angiogenesis
#19
Saptarshi Biswas, Galina Bachay, Julianne Chu, Dale D Hunter, William J Brunken
Retinal vascular diseases are among the leading causes of acquired blindness. In recent years, retinal microglia have been shown to influence vascular branching density and endothelial cell proliferation. However, how microglial recruitment and activation are regulated during development remains unclear. We hypothesized that microglial recruitment, activation, and down-stream signaling are modulated by components of the mural basement membrane. We used a reverse genetic approach to disrupt laminin expression in the vascular basement membrane and demonstrate that microglia respond to the mural basement membrane in an isoform-specific manner...
July 8, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28695744/genome-editing-the-breakthrough-technology-for-inherited-retinal-disease
#20
Andrew J Smith, Stephen P Carter, Breandán N Kennedy
Genetic alterations resulting in a dysfunctional retinal pigment epithelium and/or degenerating photoreceptors cause impaired vision. These juxtaposed cells in the retina of the posterior eye are crucial for the visual cycle or phototransduction. Deficits in these biochemical processes perturb neural processing of images capturing the external environment. Notably, there is a distinct lack of clinically approved pharmacological, cell- or gene-based therapies for inherited retinal disease. Gene editing technologies are rapidly advancing as a realistic therapeutic option...
July 11, 2017: Expert Opinion on Biological Therapy
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