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https://www.readbyqxmd.com/read/30326207/pre-ischemic-enriched-environment-increases-retinal-resilience-to-acute-ischemic-damage-in-adult-rats
#1
María F González Fleitas, Marcos L Aranda, Hernán H Dieguez, Julian D Devouassoux, Mónica S Chianelli, Damian Dorfman, Ruth E Rosenstein
Retinal ischemia is a condition associated with several degenerative diseases leading to visual impairment and blindness worldwide. Currently, there is no highly effective therapy for ischemic retinopathies. This study was designed to determine possible benefits of pre-exposure to enriched environment against retinal damage induced by acute ischemia. For this purpose, adult male Wistar rats were randomly assigned to a pre-ischemic standard environment or a pre-ischemic enriched environment for 3 weeks, followed by unilateral ischemia induced by increasing intraocular pressure above 120 mm Hg for 40 min and reperfusion for 1 or 2 weeks in standard environment...
October 13, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/30300311/progression-of-scotopic-single-flash-electroretinography-in-the-stages-of-capn5-vitreoretinopathy
#2
Peter H Tang, Tyson R Kinnick, James C Folk, MaryAnn Mahajan, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
PURPOSE: To characterize the changes found in the electroretinography (ERG) recordings of patients with autosomal dominant neovascular inflammatory vitreoretinopathy and correlate with clinical stages of the disease. METHODS: Retrospective chart review. Bright- and dim-flash full-field scotopic, photopic, and 30-Hz flicker ERGs were obtained according to international standards. The scotopic ERGs were further processed to analyze the oscillatory potential. The patient described in the case report underwent full ERG testing; five patients composed the archival case series data and included scotopic ERG recordings...
October 8, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/30300304/a-prospective-evaluation-of-the-repeatability-and-reliability-of-new-steady-state-pattern-electroretinogram-parameters
#3
Kevin Gillmann, Kaweh Mansouri, Harsha L Rao, Adel Ouabas, Ankita Chaudhary, Giorgio Enrico Bravetti, André Mermoud
PURPOSE: To determine the repeatability and reproducibility of a new Pattern Electroretinography (PERG) device in healthy subjects. METHODS: 40 eyes of 20 healthy subjects (45.6±6.8▒y, 70% female) were enrolled in this prospective study. Steady-state PERG were recorded using the Diopsys NOVA® (Diopsys Inc., NJ, USA) to obtain the Magnitude, MagnitudeD, MagnitudeD/Magnitude Ratio and Signal to Noise Ratio. Subjects underwent 2 "contrast sensitivity" protocols with the same electrodes and 2 after changing electrodes, by a single examiner...
October 8, 2018: Journal of Glaucoma
https://www.readbyqxmd.com/read/30298622/high-prevalence-of-congenital-deafness-on-reunion-island-is-due-to-a-founder-variant-of-lhfpl5
#4
Justine Lerat, Crystel Bonnet, François Cartault, Natalie Loundon, Marie-Line Jacquemont, Françoise Darcel, Isabelle Rouillon, Kheira Mezouaghi, Agnes Guichet, Julie Litzler, Roselyne Gesny, Souad Gherbi, Ines B E N Aissa, Fabienne S A I N T J A M E S Digeon, Eréa-Nöel Garabedian, Jean-Paul Bonnefont, Emmanuelle Genin, Françoise Denoyelle, Laurence Jonard, Sandrine Marlin
Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the mainland France. Twelve children having isolated bilateral prelingual profound deafness along with motor delay attributed to vestibular areflexia were enrolled. Their mean walking age was 19 months. Electroretinography and temporal bone CT-scans were normal in all cases. A novel homozygous frameshift LHFPL5 variant c.185delT p.(Phe62Serfs*23) was identified using Whole Exome Sequencing (WES)...
October 8, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/30290331/flavin-homeostasis-in-the-mouse-retina-during-aging-and-degeneration
#5
Tirthankar Sinha, Mustafa Makia, Jianhai Du, Muna I Naash, Muayyad R Al-Ubaidi
Involvement of flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) in cellular homeostasis has been well established for tissues other than the retina. Here, we present an optimized method to effectively extract and quantify FAD and FMN from a single neural retina and its corresponding retinal pigment epithelium (RPE). Optimizations led to detection efficiency of 0.1 pmol for FAD and FMN while 0.01 pmol for riboflavin. Interestingly, levels of FAD and FMN in the RPE were found to be 1.7- and 12...
September 15, 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/30290152/bi-allelic-loss-of-function-variants-in-dnmbp-cause-infantile-cataracts
#6
Muhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, Aamir Nazir, Samina Imtiaz, Muhammad T Sarwar, Alkistis Manousopoulou, Periklis Makrythanasis, Sondas Saeed, Emilie Falconnet, Michel Guipponi, Constantin J Pournaras, Maqsood A Ansari, Emmanuelle Ranza, Federico A Santoni, Jawad Ahmed, Inayat Shah, Khitab Gul, Graeme Cm Black, Hugo J Bellen, Stylianos E Antonarakis
Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We identified three consanguineous families affected by bilateral infantile cataracts. Using exome sequencing, we found homozygous loss-of-function variants in DNMBP: nonsense variant c.811C>T (p.Arg271∗ ) in large family F385 (nine affected individuals; LOD score = 5...
October 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/30289319/novel-causative-variants-in-patients-with-achromatopsia
#7
Ehab Abdelkader, Oliver Brandau, Carsten Bergmann, Nuha AlSalamah, Sawsan Nowilaty, Patrik Schatz
PURPOSE: To report five novel genetic variants in seven unrelated consanguineous families with achromatopsia (ACHM). METHODS: Patients were examined with multimodal retinal imaging and full-field electroretinography (ffERG). Genetic testing was conducted using next-generation sequencing (NGS). RESULTS: Three novel homozygous variants were detected in CNGA3: a missense c.967G > C (p.Ala323Pro) variant was detected in exon 8 (one patient), a splice site variant c...
October 5, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30288662/effectiveness-of-intraoperative-visual-evoked-potential-in-avoiding-visual-deterioration-during-endonasal-transsphenoidal-surgery-for-pituitary-tumors
#8
Kentaro Toyama, Masahiko Wanibuchi, Toshimi Honma, Katsuya Komatsu, Yukinori Akiyama, Takeshi Mikami, Nobuhiro Mikuni
Postoperative visual function is a major concern in transsphenoidal surgery (TSS). Although several reports have demonstrated the importance of visual evoked potential (VEP) monitoring during TSS, the usefulness of VEP monitoring have been controversial because of its reproducibility. Efficacy of VEP was analyzed in 20 consecutive cases of patients who underwent endoscopic endonasal TSS surgery. We adapted a high-power light-emitting diode stimulator with electroretinography using venous anesthesia. In addition, we used black shield patch and braided codes to obtain reproducible VEP amplitudes...
October 5, 2018: Neurosurgical Review
https://www.readbyqxmd.com/read/30285900/swept-source-optical-coherence-tomography-and-optical-coherence-tomography-angiography-in-pediatric-enhanced-s-cone-syndrome-a-case-report
#9
Angelo Maria Minnella, Valeria Pagliei, Maria Cristina Savastano, Matteo Federici, Matteo Bertelli, Paolo Enrico Maltese, Giorgio Placidi, Giovanni Corbo, Benedetto Falsini, Aldo Caporossi
BACKGROUND: Enhanced S-cone syndrome is an autosomal recessive retinal dystrophy related to a defect in a nuclear receptor gene (NR2E3) that leads to alteration in cells development from rod to S-cone. This retinal dystrophy may be associated with retinal schisis. The aim of this report is to describe structural optical coherence tomography and optical coherence tomography angiography features in a case of enhanced S-cone syndrome associated with macular schisis. CASE PRESENTATION: A Caucasian 13-year-old girl underwent measurement of best corrected visual acuity, ophthalmoscopic evaluation, and fundus autofluorescence examination...
October 3, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/30274378/inhibition-of-experimental-choroidal-neovascularization-by-a-novel-peptide-derived-from-calreticulin-anti-angiogenic-domain
#10
Youn-Shen Bee, Yi-Ling Ma, Jinying Chen, Pei-Jhen Tsai, Shwu-Jiuan Sheu, Hsiu-Chen Lin, Hu Huang, Guei-Sheung Liu, Ming-Hong Tai
Choroidal neovascularization (CNV) is a key pathological feature of several leading causes of vision loss including neovascular age-related macular degeneration. Here, we show that a calreticulin anti-angiogenic domain (CAD)-like peptide 27, CAD27, inhibited in vitro angiogenic activities, including tube formation, migration of endothelial cells, and vascular sprouting from rat aortic ring explants. In a rat model of laser-induced CNV, we demonstrate that intravitreal injection of CAD27 significantly attenuated the formation of CNV lesions as measured via fundus fluorescein angiography and choroid flat-mounts (19...
September 30, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/30271113/macular-phototoxicity-after-corneal-cross-linking
#11
Paulo Rodolfo Tagliari Barbisan, Marina Gonçalves Monteiro Viturino, Fernanda Maria Silveira Souto, Bo Tian, Roberto Damian Pacheco Pinto, Lucas Barasnevicius Quagliato, Maurício Abujamra Nascimento, Rosane Silvestre de Castro, Carlos Eduardo Leite Arieta
Purpose: To assess potential vascular, structural, and functional changes to the macula in patients with keratoconus that underwent ultraviolet A (UVA)-riboflavin-mediated corneal collagen cross-linking (CXL) therapy. Patients and methods: Seventeen eyes from 17 patients of age 16 years or older with keratoconus undergoing CXL treatment were studied. The same eye served as its own control (before CXL vs after CXL). Eyes were evaluated in terms of best-corrected visual acuity (BCVA), refractive error, intraocular pressure, Amsler grid, retinography, fluorescein angiography, autofluorescence, and spectral domain optical coherence tomography (SD-OCT) prior to CXL and 7 and 30 days after treatment...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/30260920/clinical-course-of-paraneoplastic-retinopathy-with-anti-trpm1-autoantibody-in-japanese-cohort
#12
Shinji Ueno, Daiki Inooka, Ayami Nakanishi, Satoshi Okado, Shunsuke Yasuda, Taro Kominami, Akira Sayo, Takeshi Morimoto, Mineo Kondo, Satoshi Katagiri, Takaaki Hayashi, Hiroko Terasaki
PURPOSE: To report the clinical course of eyes with paraneoplastic retinopathy caused by an autoantibody against transient receptor potential cation channel, subfamily M, member 1 (TRPM1). METHODS: Ten paraneoplastic retinopathy patients with retinal ON-bipolar cell dysfunction, including six melanoma-associated retinopathy, from eight institutions in Japan were evaluated for the presence of an anti-TRPM1 antibody. The results of ophthalmic examinations and the presence of anti-TRPM1 antibody were analyzed...
September 26, 2018: Retina
https://www.readbyqxmd.com/read/30260717/novel-truncating-mutation-in-cacna1f-in-a-young-male-patient-diagnosed-with-optic-atrophy
#13
Francesca Pasutto, Arif Ekici, André Reis, Jan Kremers, Cord Huchzermeyer
BACKGROUND: Low vision in children can be accompanied by pallor of the optic disc with little or no characteristic morphologic changes of the retina. A variety of diseases can be the underlying cause, including hereditary optic atrophy, Leber's congenital amaurosis (LCA), achromatopsia, and calcium channel, voltage-dependent, L-type, alpha-1F subunit gene (CACNA1F)-associated retinopathy (most widely known as incomplete congenital stationary night blindness: iCSNB). Differentiation at early age is desirable due to large differences in prognosis, but may be difficult because phenotypes overlap and electrophysiological testing is challenging in young patients...
September 27, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/30258047/neuroprotection-of-retinal-ganglion-cells-by-a-novel-gene-therapy-construct-that-achieves-sustained-enhancement-of-brain-derived-neurotrophic-factor-tropomyosin-related-kinase-receptor-b-signaling
#14
Andrew Osborne, Tasneem Z Khatib, Lalana Songra, Amanda C Barber, Katie Hall, George Y X Kong, Peter S Widdowson, Keith R Martin
Previous studies have demonstrated that intravitreal delivery of brain-derived neurotrophic factor (BDNF) by injection of recombinant protein or by gene therapy can alleviate retinal ganglion cell (RGC) loss after optic nerve injury. BDNF gene therapy can improve RGC survival in experimental models of glaucoma, the leading cause of irreversible blindness worldwide. However, the therapeutic efficacy of BDNF supplementation alone is time limited at least in part due to BDNF receptor downregulation. Tropomyosin-related receptor kinase-B (TrkB) downregulation has been reported in many neurological diseases including glaucoma, potentially limiting the effect of sustained or repeated BDNF delivery...
September 26, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/30254287/omega-3-from-flaxseed-oil-protects-obese-mice-against-diabetic-retinopathy-through-gpr120-receptor
#15
Marcella Neves Dátilo, Marcella Ramos Sant'Ana, Guilherme Pedron Formigari, Patrícia Brito Rodrigues, Leandro Pereira de Moura, Adelino Sanchez Ramos da Silva, Eduardo Rochete Ropelle, José Rodrigo Pauli, Dennys Esper Cintra
The chronic and low-grade inflammation induced by obesity seem to be the "first hit" to retinopathy associated to diabetes type 2. Herein, we hypothesized that omega-3 fatty acids from flaxseed oil enriched diet disrupt the pro-inflammatory status in the retina, protecting against retinopathy development. For eight weeks under a high-fat diet (HF), several physiological parameters were monitored to follow the metabolic homeostasis disruption. After this period, mice were treated with a HF substituted in part of lard by flaxseed oil (FS) for another eight weeks...
September 25, 2018: Scientific Reports
https://www.readbyqxmd.com/read/30253279/loss-of-nrf-2-and-pgc-1%C3%AE-genes-leads-to-retinal-pigment-epithelium-damage-resembling-dry-age-related-macular-degeneration
#16
Szabolcs Felszeghy, Johanna Viiri, Jussi J Paterno, Juha M T Hyttinen, Ali Koskela, Mei Chen, Henri Leinonen, Heikki Tanila, Niko Kivinen, Arto Koistinen, Elisa Toropainen, Marialaura Amadio, Adrian Smedowski, Mika Reinisalo, Mateusz Winiarczyk, Jerzy Mackiewicz, Maija Mutikainen, Anna-Kaisa Ruotsalainen, Mikko Kettunen, Kimmo Jokivarsi, Debasish Sinha, Kati Kinnunen, Goran Petrovski, Janusz Blasiak, Geir Bjørkøy, Ari Koskelainen, Heli Skottman, Arto Urtti, Antero Salminen, Ram Kannan, Deborah A Ferrington, Heping Xu, Anna-Liisa Levonen, Pasi Tavi, Anu Kauppinen, Kai Kaarniranta
Age-related macular degeneration (AMD) is a multi-factorial disease that is the leading cause of irreversible and severe vision loss in the developed countries. It has been suggested that the pathogenesis of dry AMD involves impaired protein degradation in retinal pigment epithelial cells (RPE). RPE cells are constantly exposed to oxidative stress that may lead to the accumulation of damaged cellular proteins, DNA and lipids and evoke tissue deterioration during the aging process. The ubiquitin-proteasome pathway and the lysosomal/autophagosomal pathway are the two major proteolytic systems in eukaryotic cells...
September 14, 2018: Redox Biology
https://www.readbyqxmd.com/read/30246634/protective-role-of-endogenous-pacap-in-inflammation-induced-retinal-degeneration
#17
Alexandra Vaczy, Petra Kovari, Krisztina Kovacs, Kinga Farkas, Edina Szabo, Timea Kvarik, Bela Kocsis, Balazs Fulop, Tamas Atlasz, Dora Reglodi
PURPOSE: Pituitary adenylate cyclase activating polypeptide (PACAP) is a neuroprotective peptide that has been shown to exert protective effects in different models of neurodegenerative diseases, including retinal degenerations. Data obtained from PACAP-deficient (PACAP KO) mice provide evidence that endogenous PACAP has neuroprotective role in different pathologies. PACAP KO mice show enhanced sensitivity to different insults, such as oxidative stress, hypoxia and inflammation. The aim of the present study was to investigate the protective effects of endogenous PACAP in retinal inflammation...
September 24, 2018: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/30243749/unilateral-retinitis-pigmentosa-in-children
#18
Carmel L Mercado, Brandon H Pham, Shannon Beres, Michael F Marmor, Scott R Lambert
BACKGROUND: Retinitis pigmentosa (RP) is a group of rare inherited retinal disorders characterized by diffuse progressive degeneration of the retina that typically presents bilaterally. Unilateral RP has not often been reported in children. We present a series of cases that illustrate discrimination between unilateral and asymmetric disease and between dystrophy and acquired degeneration. METHODS: Four patients (9-15 years of age; 3 females) were referred to our institution for possible unilateral RP based on fundus appearance and unilateral symptoms...
September 19, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/30242501/knockout-of-ush2a-gene-in-zebrafish-causes-hearing-impairment-and-late-onset-rod-cone-dystrophy
#19
Shanshan Han, Xiliang Liu, Shanglun Xie, Meng Gao, Fei Liu, Shanshan Yu, Peng Sun, Changquan Wang, Stephen Archacki, Zhaojing Lu, Xuebin Hu, Yayun Qin, Zhen Qu, Yuwen Huang, Yuexia Lv, Jiayi Tu, Jingzhen Li, Tinsae Assefa Yimer, Tao Jiang, Zhaohui Tang, Daji Luo, Fangyi Chen, Mugen Liu
Most cases of Usher syndrome type II (USH2) are due to mutations in the USH2A gene. There are no effective treatments or ideal animal models for this disease, and the pathological mechanisms of USH2 caused by USH2A mutations are still unknown. Here, we constructed a ush2a knockout (ush2a-/- ) zebrafish model using TALEN technology to investigate the molecular pathology of USH2. An early onset auditory disorder and abnormal morphology of inner ear stereocilia were identified in the ush2a-/- zebrafish. Consequently, the disruption of Ush2a in zebrafish led to a hearing impairment, like that in mammals...
September 21, 2018: Human Genetics
https://www.readbyqxmd.com/read/30239717/loss-of-crb2-in-m%C3%A3-ller-glial-cells-modifies-a-crb1-associated-retinitis-pigmentosa-phenotype-into-a-leber-congenital-amaurosis-phenotype
#20
Peter M Quinn, Aat A Mulder, C Henrique Alves, Mélissa Desrosiers, Sharon I Vries, Jan Klooster, Deniz Dalkara, Abraham J Koster, Carolina R Jost, Jan Wijnholds
Variations in the human Crumbs homolog-1 (CRB1) gene lead to an array of retinal dystrophies including early-onset of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) in children. To investigate the physiological roles of CRB1 and CRB2 in retinal Müller glial cells, we analysed mouse retinas lacking both proteins in Müller glial cells. The peripheral retina showed a faster progression of dystrophy than the central retina. The central retina showed retinal folds, disruptions at the outer limiting membrane, protrusion of photoreceptor nuclei into the inner and outer segment layers, and ingression of photoreceptor nuclei into the photoreceptor synaptic layer...
September 19, 2018: Human Molecular Genetics
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