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https://www.readbyqxmd.com/read/28227567/a-method-to-assess-the-location-and-positional-stability-of-supra-choroidal-retinal-neuroprostheses
#1
Barry S Gow, Gregg J Suaning, Barry S Gow, Gregg J Suaning, Barry S Gow, Gregg J Suaning
Electrical stimulation of the retina is now firmly established as a means of restoration of rudimentary vision for blindness particularly that caused by retinitis pigmentosa. Of the various approaches, the novel positioning of an ultra-thin stimulating electrode array (SEA) posterior to the choroid has shown promising results. Following their implantation, reliable imaging methods are essential to establish the SEA's location relative to the optic disk and retinal vasculature. Because the opacity of the choroid precludes the use of conventional light-based fundus imaging, we developed an instrument (Wangiscope) that relies on infra-red illumination from LEDs...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28227182/strategies-to-improve-stimulation-efficiency-for-retinal-prostheses
#2
Navya S Davuluri, Kiran Nimmagadda, Artin Petrossians, Mark S Humayun, James D Weiland, Navya S Davuluri, Kiran Nimmagadda, Artin Petrossians, Mark S Humayun, James D Weiland, Mark S Humayun, Kiran Nimmagadda, Navya S Davuluri, James D Weiland, Artin Petrossians
Retinitis Pigmentosa (RP) is a degenerative disease of the retina that leads to vision loss. Retinal prostheses are being developed in order to restore functional vision in patients suffering from RP. We conducted in-vivo experiments in order to identify strategies to efficiently stimulate the retina. We electrically stimulated the retina and measured electrically evoked potentials (EERs) from the superior colliculus of rats. We compared the strength of EERs when voltage-controlled and current-controlled pulses of varying pulse width and charge levels were applied to the retina...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225724/outer-retinal-tubulation-in-retinal-dystrophies
#3
Imoro Z Braimah, Sunila Dumpala, Jay Chhablani
BACKGROUND/PURPOSE: To evaluate the occurrence and characteristics of outer retinal tubulation (ORT) in an Indian population with retinal dystrophies. METHODS: In this retrospective study, 309 eyes of 157 patients with retinal dystrophies including retinitis pigmentosa (RP, 183 eyes), Stargardt disease (STGD, 93 eyes) and Best disease (33 eyes) were reviewed. The demographic details, clinical data including visual acuity, treatment history and good quality spectral domain optical coherence tomography (SD-OCT) scans were collected...
March 2017: Retina
https://www.readbyqxmd.com/read/28224992/diagnostic-exome-sequencing-in-266-dutch-patients-with-visual-impairment
#4
Lonneke Haer-Wigman, Wendy Ag van Zelst-Stams, Rolph Pfundt, L Ingeborgh van den Born, Caroline Cw Klaver, Joke Bgm Verheij, Carel B Hoyng, Martijn H Breuning, Camiel Jf Boon, Anneke J Kievit, Virginie Jm Verhoeven, Jan Wr Pott, Suzanne Ceh Sallevelt, Johanna M van Hagen, Astrid S Plomp, Hester Y Kroes, Stefan H Lelieveld, Jayne Y Hehir-Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans Pm Cremers, Lies Hoefsloot, Helger G Yntema
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected and when the patient consented, the entire exome data was analyzed. A total of 266 Dutch patients with different types of inherited eye disorders, including inherited retinal dystrophies, cataract, developmental eye disorders and optic atrophy, were investigated...
February 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28221257/intravitreal-dexamethasone-implant-in-retinitis-pigmentosa-related-cystoid-macular-edema
#5
Ahmad M Mansour, Huda Sheheitli, Cem Kucukerdonmez, Robert A Sisk, Raphael Moura, Marilita M Moschos, Luiz H Lima, Laila Al-Shaar, J Fernando Arevalo, Mauricio Maia, Robert E Foster, Ozcan Kayikcioglu, Igor Kozak, Shree Kurup, Hernando Zegarra, Roberto Gallego-Pinazo, Rola N Hamam, Riad A Bejjani, Esat Cinar, Ethem T Erakgün, Alan Kimura, Anderson Teixeira
PURPOSE: To report the clinical outcome after intravitreal dexamethasone implant in patients with retinitis pigmentosa and cystoid macular edema. METHODS: Multicenter retrospective case series of eyes with retinitis pigmentosa and cystoid macular edema that underwent intravitreal dexamethasone implant. Primary outcome measures were best-corrected visual acuity in LogMAR and central macular thickness. Statistical analyses used two-tailed comparison with Wilcoxon signed-rank test...
February 17, 2017: Retina
https://www.readbyqxmd.com/read/28216676/fractalkine-cx3cr1-signaling-is-critical-for-progesterone-mediated-neuroprotection-in-the-retina
#6
Sarah L Roche, Alice C Wyse-Jackson, Ana M Ruiz-Lopez, Ashleigh M Byrne, Thomas G Cotter
Retinitis pigmentosa (RP) encompasses a group of retinal diseases resulting in photoreceptor loss and blindness. We have previously shown in the rd10 mouse model of RP, that rd10 microglia drive degeneration of viable neurons. Norgestrel, a progesterone analogue, primes viable neurons against potential microglial damage. In the current study we wished to investigate this neuroprotective effect further. We were particularly interested in the role of fractalkine-CX3CR1 signaling, previously shown to mediate photoreceptor-microglia crosstalk and promote survival in the rd10 retina...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216641/targeted-rp9-ablation-and-mutagenesis-in-mouse-photoreceptor-cells-by-crispr-cas9
#7
Ji-Neng Lv, Gao-Hui Zhou, Xuejiao Chen, Hui Chen, Kun-Chao Wu, Lue Xiang, Xin-Lan Lei, Xiao Zhang, Rong-Han Wu, Zi-Bing Jin
Precursor messenger RNA (Pre-mRNA) splicing is an essential biological process in eukaryotic cells. Genetic mutations in many spliceosome genes confer human eye diseases. Mutations in the pre-mRNA splicing factor, RP9 (also known as PAP1), predispose autosomal dominant retinitis pigmentosa (adRP) with an early onset and severe vision loss. However, underlying molecular mechanisms of the RP9 mutation causing photoreceptor degeneration remains fully unknown. Here, we utilize the CRISPR/Cas9 system to generate both the Rp9 gene knockout (KO) and point mutation knock in (KI) (Rp9, c...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28212859/docosahexaenoic-acid-phospholipid-differentially-modulates-the-conformation-of-g90v-and-n55k-rhodopsin-mutants-associated-with-retinitis-pigmentosa
#8
Xiaoyun Dong, María Guadalupe Herrera-Hernández, Eva Ramon, Pere Garriga
Rhodopsin is the visual photoreceptor of the retinal rod cells that mediates dim light vision and a prototypical member of the G protein-coupled receptor superfamily. The structural stability and functional performance of rhodopsin are modulated by membrane lipids. Docosahexaenoic acid has been shown to interact with native rhodopsin but no direct evidence has been established on the effect of such lipid on the stability and regeneration of rhodopsin mutants associated with retinal diseases. The stability and regeneration of two thermosensitive mutants G90V and N55K, associated with the retinal degenerative disease retinitis pigmentosa, have been analyzed in docosohexaenoic phospholipid (1,2-didocosa-hexaenoyl-sn-glycero-3-phosphocholine; DDHA-PC) liposomes...
February 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28210186/bilateral-retinitis-pigmentosa-with-unilateral-choroidal-nevus-a-hitherto-unreported-association
#9
Rupak Roy, Kumar Saurabh, Debmalya Das, Preeti Sharma, Avirupa Ghose, Dhileesh P Chandrasekharan
Retinitis Pigmentosa (RP) has been reported to be associated with retinal hemangioma, retinal angiomatous proliferation, polypoidal choroidal vasculopathy and vasoproliferative tumours. However there is no previous report of choroidal nevus in an eye with RP. We describe such a case in which the eye with RP had a choroidal nevus at the macula. The coexistence of these two entities in the same eye emphasizes the need of careful examination of patients with RP. The presence of choroidal nevus warrants additional investigations such as B scan ultrasonography and a close follow-up to pick up changes in the nevus size and morphology...
July 2016: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/28210098/mertk-gene-expression-and-photoreceptor-outer-segment-phagocytosis-by-cultured-rat-bone-marrow-mesenchymal-stem-cells
#10
Rong-Mei Peng, Jing Hong, Ying Jin, Yu-Zhao Sun, Yi-Qian Sun, Pei Zhang
BACKGROUND: Bone marrow mesenchymal stem cells (BM-MSCs) are multipotential stem cells that have been used for a broad spectrum of indications. Several investigations have used BM-MSCs to promote photoreceptor survival and suggested that BM-MSCs are a potential source of cell replacement therapy for some forms of retinal degeneration. PURPOSE: To investigate the expression of the MER proto-oncogene, tyrosine kinase (Mertk), involved in the disruption of RPE phagocytosis and the onset of autosomal recessive retinitis pigmentosa in rat BM-MSCs and to compare phagocytosis of the photoreceptor outer segment (POS) by BM-MSCs and RPE cells in vitro...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28209709/pathogenic-mutations-in-retinitis-pigmentosa-2-predominantly-result-in-loss-of-rp2-protein-stability-in-human-and-zebrafish
#11
Fei Liu, Yayun Qin, Shanshan Yu, Dinesh C Soares, Lifang Yang, Jun Weng, Chang Li, Meng Gao, Zhaojing Lu, Xuebin Hu, Xiliang Liu, Tao Jiang, Jing Y Liu, Xinhua Shu, Zhaohui Tang, Mugen Liu
Mutations in retinitis pigmentosa 2 (RP2) account for 10-20% of X-linked retinitis pigmentosa (RP) cases. The encoded RP2 protein is implicated in ciliary trafficking of myristoylated and prenylated proteins in photoreceptor cells. To date, over 70 mutations in RP2 have been identified. How these mutations disrupt the function of RP2 is not fully understood. Here, we report a novel in-frame 12-bp deletion (c.357_368del, p.Pro120_Gly123del) in zebrafish rp2 The mutant zebrafish shows reduced rod phototransduction proteins and progressive retinal degeneration...
February 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28203188/endoscope-assisted-and-controlled-argus-ii-epiretinal-prosthesis-implantation-in-late-stage-retinitis-pigmentosa-a-report-of-2-cases
#12
Emin Özmert, Sibel Demirel
Several different approaches for restoring sight in subjects who are blind due to outer retinal degeneration are currently under investigation, including stem cell therapy, gene therapy, and visual prostheses. Although many different types of visual prostheses have shown promise, to date, the Argus II Epiretinal Prosthesis System, developed in a clinical setting over the course of 10 years, is the world's first and only retinal prosthesis that has been approved by the United States Food and Drug Administration (FDA) and has been given the CE-Mark for sale within the European Economic Area (EEA)...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28197196/construction-of-a-plasmid-for-human-brain-derived-neurotrophic-factor-and-its-effect-on-retinal-pigment-epithelial-cell-viability
#13
Bo-Jing Yan, Zhi-Zhong Wu, Wei-Hua Chong, Gen-Lin Li
Several studies have investigated the protective functions of brain-derived neurotrophic factor (BDNF) in retinitis pigmentosa. However, a BDNF-based therapy for retinitis pigmentosa is not yet available. To develop an efficient treatment for fundus disease, an eukaryotic expression plasmid was generated and used to transfect human 293T cells to assess the expression and bioactivity of BDNF on acute retinal pigment epithelial-19 (ARPE-19) cells, a human retinal epithelial cell line. After 96 hours of co-culture in a Transwell chamber, ARPE-19 cells exposed to BDNF secreted by 293T cells were more viable than ARPE-19 cells not exposed to secreted BDNF...
December 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28192796/analysis-of-the-prpf31-gene-in-spanish-autosomal-dominant-retinitis-pigmentosa-patients-a-novel-genomic-rearrangement
#14
Inmaculada Martin-Merida, Rocio Sanchez-Alcudia, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Raquel Perez-Carro, Luciana Rodriguez-Jacy da Silva, Berta Almoguera, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Almudena Avila-Fernandez, Miguel Carballo, Marta Corton, Carmen Ayuso
Purpose: The aim was to determine the prevalence of PRPF31 mutations in a cohort of Spanish autosomal dominant retinitis pigmentosa (adRP) families to deepen knowledge of the pathogenic mechanisms underlying the disease and to assess genotype-phenotype correlations. Methods: A cohort of 211 adRP patients was screened for variants in PRPF31 by using a combined strategy comprising next-generation sequencing approaches and copy-number variation (CNV) analysis. Quantitative RT-PCR and CNV analysis of the regulatory MSR1 element were also performed to assess PRPF31 gene expression...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28191500/insights-from-genetic-model-systems-of-retinal-degeneration-role-of-epsins-in-retinal-angiogenesis-and-vegfr2-signaling
#15
Yunzhou Dong, Xue Cai, Yong Wu, Yanjun Liu, Lin Deng, Hong Chen
The retina is a light sensitive tissue that contains specialized photoreceptor cells called rods and cones which process visual signals. These signals are relayed to the brain through interneurons and the fibers of the optic nerve. The retina is susceptible to a variety of degenerative diseases, including age-related macular degeneration (AMD), diabetic retinopathy (DR), retinitis pigmentosa (RP) and other inherited retinal degenerations. In order to reveal the mechanism underlying these diseases and to find methods for the prevention/treatment of retinal degeneration, animal models have been generated to mimic human eye diseases...
January 2017: Journal of Nature and Science
https://www.readbyqxmd.com/read/28191358/retinitis-pigmentosa-and-bilateral-idiopathic-demyelinating-optic-neuritis-in-a-6-year-old-boy-with-ofd1-gene-mutation
#16
Xun Wang, Cong Zheng, Wen Liu, Hui Yang
To identify the cause of a sudden binocular vision decrease in patients with retinitis pigmentosa and bilateral idiopathic demyelinating optic neuritis is difficult, but early diagnosis and treatment significantly improve the prognosis. Here, we report a 6-year-old boy with a progressive binocular vision decrease in 38 days. The patient had a history of night blindness, a mottled retina without pigmentation, extinguished electroretinographic response, tritanopia, and an absent ellipsoid zone outside the macula fovea by optical coherence tomography in both eyes...
2017: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/28186885/segmentation-of-locally-varying-numbers-of-outer-retinal-layers-by-a-model-selection-approach
#17
Jelena Novosel, Suzanne Yzer, Koenraad Vermeer, Lucas Van Vliet
Extraction of image-based biomarkers, such as the presence, visibility or thickness of a certain layer, from 3D optical coherence tomography data provides relevant clinical information. We present a method to simultaneously determine the number of visible layers in the outer retina and segment them. The method is based on a model selection approach with special attention given to the balance between the quality of a fit and model complexity. This will ensure that a more complex model is selected only if this is sufficiently supported by the data...
February 8, 2017: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/28186610/-progress-in-research-on-pathogenic-genes-and-gene-therapy-for-inherited-retinal-diseases
#18
Ling Zhu, Cong Cao, Jiji Sun, Tao Gao, Xiaoyang Liang, Zhipeng Nie, Yanchun Ji, Pingping Jiang, Minxin Guan
Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28181551/whole-exome-sequencing-using-ion-proton-system-enables-reliable-genetic-diagnosis-of-inherited-retinal-dystrophies
#19
Marina Riera, Rafael Navarro, Sheila Ruiz-Nogales, Pilar Méndez, Anniken Burés-Jelstrup, Borja Corcóstegui, Esther Pomares
Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work, we have evaluated the implementation of whole exome sequencing (WES) for the molecular diagnosis of IRD. Using Ion Proton(TM) system, we simultaneously analyzed 212 genes that are responsible for more than 25 syndromic and non-syndromic IRD...
February 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28178068/features-of-the-macula-and-central-visual-field-and-fixation-pattern-in-patients-with-retinitis-pigmentosa
#20
Isil Sayman Muslubas, Murat Karacorlu, Serra Arf, Mumin Hocaoglu, Mehmet Giray Ersoz
PURPOSE: To evaluate macular features and fixation pattern in patients with retinitis pigmentosa (RP) compared with healthy controls, using spectral-domain optical coherence tomography and MP-1 microperimetry. METHODS: Eighty-one eyes of 81 patients with RP and 90 eyes of 90 healthy subjects were assessed. The central foveal thickness, subfoveal choroidal thickness, ellipsoid zone length, and the mean retinal sensitivities and fixation characteristics were evaluated by spectral-domain optical coherence tomography and MP-1 microperimetry...
February 7, 2017: Retina
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