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https://www.readbyqxmd.com/read/29777677/usherin-defects-lead-to-early-onset-retinal-dysfunction-in-zebrafish
#1
Margo Dona, Ralph Slijkerman, Kimberly Lerner, Sanne Broekman, Jeremy Wegner, Taylor Howat, Theo Peters, Lisette Hetterschijt, Nando Boon, Erik de Vrieze, Nasrin Sorusch, Uwe Wolfrum, Hannie Kremer, Stephan Neuhauss, Jingjing Zang, Maarten Kamermans, Monte Westerfield, Jennifer Phillips, Erwin van Wijk
Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. To unravel the pathogenic mechanisms underlying USH2A-associated retinal degeneration and to evaluate future therapeutic strategies that could potentially halt the progression of this devastating disorder, an animal model is needed. The available Ush2a knock-out mouse model does not mimic the human phenotype, because it presents with only a mild and late-onset retinal degeneration. Using CRISPR/Cas9-technology, we introduced protein-truncating germline lesions into the zebrafish ush2a gene (ush2armc1 : c...
May 16, 2018: Experimental Eye Research
https://www.readbyqxmd.com/read/29771303/visual-impairment-and-progressive-phthisis-bulbi-caused-by-recessive-pathogenic-variant-in-mark3
#2
Muhammad Ansar, Hyunglok Chung, Yar M Waryah, Periklis Makrythanasis, Emilie Falconnet, Ali Raza Rao, Michel Guipponi, Ashok K Narsani, Ralph Fingerhut, Federico A Santoni, Emmanuelle Ranza, Ali M Waryah, Hugo J Bellen, Stylianos E Antonarakis
Developmental eye defects often severely reduce vision. Despite extensive efforts, for a substantial fraction of these cases the molecular causes are unknown. Recessive eye disorders are frequent in consanguineous populations and such large families with multiple affected individuals provide an opportunity to identify recessive causative genes. We studied a Pakistani consanguineous family with three affected individuals with congenital vision loss and progressive eye degeneration. The family was analyzed by exome sequencing of one affected individual and genotyping of all family members...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29755728/combination-of-multifocal-electroretinogram-and-spectral-domain-oct-can-increase-diagnostic-efficacy-of-parkinson-s-disease
#3
Jiang Huang, Yi Li, Jianjiang Xiao, Qin Zhang, Guoxu Xu, Guanhui Wu, Tong Liu, Weifeng Luo
Background: The retinal changes have been identified in morphology and function in Parkinson's disease (PD). However, the controversial results suggest that it is incredible that only using a single method for testing retinal change to evaluate Parkinson's disease. The aim of this study was to assess retinal changes and increase the diagnostic efficacy of Parkinson's disease with a combination of multifocal electroretinogram (mf-ERG) and spectral domain optical coherence tomography (SD-OCT) examinations...
2018: Parkinson's Disease
https://www.readbyqxmd.com/read/29748512/protective-effect-of-highly-polymeric-a-type-proanthocyanidins-from-seed-shells-of-japanese-horse-chestnut-aesculus-turbinata-blume-against-light-induced-oxidative-damage-in-rat-retina
#4
Tomoe Ishihara, Sachiko Kaidzu, Hideto Kimura, Yasurou Koyama, Yotaro Matsuoka, Akihiro Ohira
Retinal tissue is exposed to oxidative stress caused by visible light. Light-damaged rat used in age-related macular degeneration (AMD) studies clarified that antioxidants decrease retinal light damage. Albino rats were exposed to 5000 Lux light for 12 h with oral administration of the polyphenolic compounds fraction (PF) from the seed shells of Japanese horse chestnut (30 mg/kg, 100 mg/kg, and 300 mg/kg body weight: BW). To evaluate the protective effects against light damage, electroretinograms (ERGs), the outer nuclear layer (ONL) thickness, the antioxidant activity of plasma, oxidized retinal lipids, and the detection of apoptosis were examined...
May 10, 2018: Nutrients
https://www.readbyqxmd.com/read/29744753/correction-to-electroretinogram-evaluation-for-the-treatment-of-proliferative-diabetic-retinopathy-by-short-pulse-pattern-scanning-laser-panretinal-photocoagulation
#5
Haiyun Ye, Minzhong Yu, Lin Lu, Chenjin Jin, Guangwei Luo
The published online version contains incorrect data in Table 2 caption. Argon should not be mentioned in the caption as this is not used in this paper.
April 28, 2018: Lasers in Medical Science
https://www.readbyqxmd.com/read/29742163/tissue-inhibitor-of-metalloproteinases-1-enhances-rod-survival-in-the-rd1-mouse-retina
#6
Hwa Sun Kim, Andrew Vargas, Yun Sung Eom, Justin Li, Kyra L Yamamoto, Cheryl Mae Craft, Eun-Jin Lee
Retinitis pigmentosa (RP), an inherited retinal degenerative disease, is characterized by a progressive loss of rod photoreceptors followed by loss of cone photoreceptors. Previously, when tissue inhibitor of metalloproteinase 1 (TIMP1), a key extracellular matrix (ECM) regulator that binds to and inhibits activation of Matrix metallopeptidase 9 (MMP9) was intravitreal injected into eyes of a transgenic rhodopsin rat model of RP, S334ter-line3, we discovered cone outer segments are partially protected. In parallel, we reported that a specific MMP9 and MMP2 inhibitor, SB-3CT, interferes with mechanisms leading to rod photoreceptor cell death in an MMP9 dependent manner...
2018: PloS One
https://www.readbyqxmd.com/read/29737566/phosphorylated-%C3%AE-synuclein-in-the-retina-is-a-biomarker-of-parkinson-s-disease-pathology-severity
#7
Isabel Ortuño-Lizarán, Thomas G Beach, Geidy E Serrano, Douglas G Walker, Charles H Adler, Nicolás Cuenca
BACKGROUND: PD patients often have visual alterations, for example, loss of visual acuity, contrast sensitivity or motion perception, and diminished electroretinogram responses. PD pathology is mainly characterized by the accumulation of pathological α-synuclein deposits in the brain, but little is known about how synucleinopathy affects the retina. OBJECTIVE: To study the correlation between α-synuclein deposits in the retina and brain of autopsied subjects with PD and incidental Lewy body disease...
May 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29726989/a-splicing-mutation-in-aryl-hydrocarbon-receptor-associated-with-retinitis-pigmentosa
#8
Yu Zhou, Shijin Li, Lulin Huang, Yeming Yang, Lin Zhang, Mu Yang, Wenjing Liu, Kim Ramasamy, Zhilin Jiang, Periasamy Sundaresan, Xianjun Zhu, Zhenglin Yang
Retinitis pigmentosa (RP) refers to a group of retinal degenerative diseases, which often lead to vision loss. Although 70 genes have been identified in RP patients, the genetic cause of approximately 30% of RP cases remains unknown. We aimed to identify the cause of the disease in a cohort of RP families by whole exome sequencing. A rare homozygous splicing variant, c.1160 + 1G>A, which introduced skipping of exon 9 of the aryl hydrocarbon receptor (AHR), was identified in family RD-134. This variant is very rare in several exome databases and leads to skipping of exon 9 in the transcript...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29725862/ergs-on-the-brain-the-benefits-of-simultaneous-flash-retinal-and-cortical-responses-in-paediatric-cerebral-visual-impairment
#9
Sian E Handley, Dorothy A Thompson, Katrina L Prise, Alki Liasis
PURPOSE: To highlight the importance of simultaneous flash electroretinogram (ERG) and visual evoked potential (VEP) recording to differentiate a true flash VEP response from an artefact caused by the intrusion of the ERG on a mid-frontal reference electrode in cases of severe cerebral visual impairment (CVI). METHODS: We report an observational case series of four children with severe CVI who underwent simultaneous flash ERG and VEP recordings. Flash VEPs from Oz-Fz and lower lid skin ERGs referred to Fz were recorded simultaneously to Grass intensity setting 4 flash stimulation...
May 3, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29713521/new-experimental-models-of-retinal-degeneration-for-screening-molecular-photochromic-ion-channel-blockers
#10
A Yu Rotov, L A Astakhova, V S Sitnikova, A A Evdokimov, V M Boitsov, M V Dubina, M N Ryazantsev, M L Firsov
Application of molecular photochromic ion channel blockers to recover the visual function of a degenerated retina is one of the promising trends in photopharmacology. To this day, several photochromic azobenzene-based compounds have been proposed and their functionality has been demonstrated on cell lines and knockout mouse models. Further advance necessitates testing of the physiological activity of a great number of new compounds. The goal of this study is to propose animal models of photoreceptor degeneration that are easier to obtain than knockout mouse models but include the main features required for testing the physiological activity of molecular photoswitches...
January 2018: Acta Naturae
https://www.readbyqxmd.com/read/29699513/case-of-convulsive-seizure-developing-during-electroretinographic-recordings-a-case-report
#11
Yuko Hayashi, Gen Miura, Akiyuki Uzawa, Takayuki Baba, Shuichi Yamamoto
BACKGROUND: To present our findings in a case of convulsive seizures and loss of consciousness that developed during recording electroretinograms (ERG). CASE PRESENTATION: A 34-year-old man had reduced vision in his left eye for about 15 years, and night blindness for about two years. His visual acuity was 20/15 in the right eye and 20/50 in the left eye. The fundus was normal but the sensitivity in the macular region of the left eye was decreased. Optical coherence tomography (OCT) showed partial loss of the interdigitation zone...
April 25, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29691705/retinal-dysfunction-in-a-presymptomatic-patient-with-huntington-s-disease
#12
Jonelle Knapp, Dean A VanNasdale, Keith Ramsey, Julie Racine
PURPOSE: Huntington's disease (HD) is an autosomal dominant, neurodegenerative disorder characterized by progressive motor dysfunction, cognitive decline, and psychiatric disturbances. Studies have shown retinal abnormalities in patients and mouse models with HD; however, to our knowledge, no prior research papers evaluated retinal structure and function in a presymptomatic patient with HD. The aim of this report is to present a case of retinal dysfunction in a presymptomatic patient with HD...
April 24, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29688104/two-novel-forms-of-erg-oscillation-in-drosophila-age-and-activity-dependence
#13
Atsushi Ueda, Scott Woods, Ian McElree, Tristan C D G O'Harrow, Casey Inman, Savantha Thenuwara, Muhammad Aftab, Atulya Iyengar
Over an animal's lifespan, neuronal circuits and systems often decline in an inherently heterogeneous fashion. To compare the age-dependent progression of changes in visual behavior with alterations in retinal physiology, we examined phototaxis and electroretinograms (ERGs) in a wild-type D. melanogaster strain (Canton-S) across their lifespan. In aged flies (beyond 50% median lifespan), we found a marked decline in phototaxis, while motor coordination was less disrupted, as indicated by relatively stronger negative geotaxis...
April 24, 2018: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29687079/photoreceptor-protection-by-mesencephalic-astrocyte-derived-neurotrophic-factor-manf
#14
Jianmin Lu, Lingyu Luo, Deqiang Huang, Xian Liu, Xin Xia, Zhengying Wang, Byron L Lam, Jinglin Yi, Rong Wen, Yiwen Li
Retinal degenerations are a major cause of vision impairment and blindness. Neuroprotective therapy is a promising therapeutic strategy for retinal degenerative diseases. We investigated a novel neurotrophic factor mesencephalic astrocyte-derived neurotrophic factor (MANF) in the retina. MANF is expressed at a high level during postnatal development and the expression declines to a lower level as the retina matures. Müller cells are the major cells expressing MANF. It is also found in the retinal ganglion cells, in the inner nuclear layer (INL) neurons, and in retinal pigment epithelial (RPE) cells...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29684405/moderate-perinatal-thyroid-hormone-insufficiency-alters-visual-system-function-in-adult-rats
#15
William K Boyes, Laura Degn, Barbara Jane George, Mary E Gilbert
Thyroid hormone (TH) is critical for many aspects of neurodevelopment and can be disrupted by a variety of environmental contaminants. Sensory systems, including audition and vision are vulnerable to TH insufficiencies, but little data are available on visual system development at less than severe levels of TH deprivation. The goal of the current experiments was to explore dose-response relations between graded levels of TH insufficiency during development and the visual function of adult offspring. Pregnant Long Evans rats received 0 or 3 ppm (Experiment 1), or 0, 1, 2, or 3 ppm (Experiment 2) of propylthiouracil (PTU), an inhibitor of thyroid hormone synthesis, in drinking water from gestation day (GD) 6 to postnatal day (PN) 21...
April 20, 2018: Neurotoxicology
https://www.readbyqxmd.com/read/29677370/topical-ripasudil-suppresses-retinal-ganglion-cell-death-in-a-mouse-model-of-normal-tension-glaucoma
#16
Kei Akaiwa, Kazuhiko Namekata, Yuriko Azuchi, Hiroki Sano, Xiaoli Guo, Atsuko Kimura, Chikako Harada, Yoshinori Mitamura, Takayuki Harada
Purpose: To assess if ripasudil has a neuroprotective effect using mice with excitatory amino acid carrier 1 (EAAC1) deletion (EAAC1 knockout [KO] mice), a mouse model of normal tension glaucoma. Methods: Topical administration (5 μL/day) of two different concentrations of ripasudil (0.4% and 2%) were applied to EAAC1 KO mice from 5 to 12 weeks old. Optical coherence tomography, multifocal electroretinograms, the measurement of intraocular pressure (IOP), and histopathology analyses were performed at 5, 8, and 12 weeks old...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29676688/ophthalmic-manifestations-of-heimler-syndrome-due-to-pex6-mutations
#17
Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, Mai Tsukikawa, Avrey Thau, Jenina Capasso, Reuven Sharony, Chris F Inglehearn, Alex V Levin
BACKGROUND/AIMS: Pigmentary retinal dystrophy and macular dystrophy have been previously reported in Heimler syndrome due to mutations in PEX1. Here we reported the ocular manifestations in Heimler syndrome due to mutations in PEX6. MATERIALS AND METHODS: Medical records were reviewed to identify patient demographics, ophthalmic and systemic findings, and results of diagnostic testing including whole genome sequencing. RESULTS: Patient 1 is 12-year-old boy with a novel mutation c...
June 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29673930/amelioration-of-neurosensory-structure-and-function-in-animal-and-cellular-models-of-a-congenital-blindness
#18
Ji Yun Song, Puya Aravand, Sergei Nikonov, Lanfranco Leo, Arkady Lyubarsky, Jeannette L Bennicelli, Jieyan Pan, Zhangyong Wei, Ivan Shpylchak, Pamela Herrera, Daniel J Bennett, Nicoletta Commins, Albert M Maguire, Jennifer Pham, Anneke I den Hollander, Frans P M Cremers, Robert K Koenekoop, Ronald Roepman, Patsy Nishina, Shangzhen Zhou, Wei Pan, Gui-Shuang Ying, Tomas S Aleman, Jimmy de Melo, Ilan McNamara, Junwei Sun, Jason Mills, Jean Bennett
Most genetically distinct inherited retinal degenerations are primary photoreceptor degenerations. We selected a severe early onset form of Leber congenital amaurosis (LCA), caused by mutations in the gene LCA5, in order to test the efficacy of gene augmentation therapy for a ciliopathy. The LCA5-encoded protein, Lebercilin, is essential for the trafficking of proteins and vesicles to the photoreceptor outer segment. Using the AAV serotype AAV7m8 to deliver a human LCA5 cDNA into an Lca5 null mouse model of LCA5, we show partial rescue of retinal structure and visual function...
March 21, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29664981/intravitreal-ziv-aflibercept-for-diabetic-macular-edema-48-week-outcomes
#19
Gabriel Costa de Andrade, João Rafael de Oliveira Dias, André Maia, Michel Eid Farah, Carsten H Meyer, Eduardo Buchele Rodrigues
BACKGROUND AND OBJECTIVE: To study the safety and efficacy of intravitreal injections of ziv-aflibercept (IVI-ZA) (Zaltrap; Sanofi-Aventis and Regeneron Pharmaceuticals, Tarrytown, NY) during a period of 48 weeks in patients with diabetic macular edema (DME). PATIENTS AND METHODS: Seven consecutive patients with DME were enrolled and submitted to 12 consecutive IVI-ZA with a 4-week interval. The safety parameters included changes in full-field electroretinogram (ERG) and systemic or ocular complications, and the efficacy parameters were the mean change from baseline in best-corrected visual acuity (BCVA) and central retinal thickness (CRT)...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29664979/comparative-evaluation-of-standard-ilm-peel-with-inverted-ilm-flap-technique-in-large-macular-holes-a-prospective-randomized-study
#20
S Manasa, Prateek Kakkar, Atul Kumar, Parijat Chandra, Vinod Kumar, Raghav Ravani
BACKGROUND AND OBJECTIVE: To compare the outcomes of inverted internal limiting membrane (ILM) flap technique (IFT) with the standard ILM peel (SIP) for large macular holes (MHs). PATIENTS AND METHODS: This is a prospective, randomized study in which 100 patients with idiopathic MHs with minimum linear dimension of 600 μm or greater were recruited. Group 1 underwent SIP and group 2 underwent IFT. Best-corrected visual acuity (BCVA), type of MH closure, and multifocal electroretinogram (mfERG) were evaluated at presentation, 1 week, 1 month, and 3 months postoperatively...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
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