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https://www.readbyqxmd.com/read/28742085/clinically-severe-cacna1a-alleles-affect-synaptic-function-and-neurodegeneration-differentially
#1
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado, Joshua Rotenberg, Richard Alan Lewis, Lisa Emrick, Carlos A Bacino, Mohammad K Eldomery, Zeynep Coban Akdemir, Fan Xia, Yaping Yang, Seema R Lalani, Timothy Lotze, James R Lupski, Brendan Lee, Hugo J Bellen, Michael F Wangler
Dominant mutations in CACNA1A, encoding the α-1A subunit of the neuronal P/Q type voltage-dependent Ca2+ channel, can cause diverse neurological phenotypes. Rare cases of markedly severe early onset developmental delay and congenital ataxia can be due to de novo CACNA1A missense alleles, with variants affecting the S4 transmembrane segments of the channel, some of which are reported to be loss-of-function. Exome sequencing in five individuals with severe early onset ataxia identified one novel variant (p.R1673P), in a girl with global developmental delay and progressive cerebellar atrophy, and a recurrent, de novo p...
July 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28740757/using-electroretinograms-and-multi-model-inference-to-identify-spectral-classes-of-photoreceptors-and-relative-opsin-expression-levels
#2
Nicolas Lessios
Understanding how individual photoreceptor cells factor in the spectral sensitivity of a visual system is essential to explain how they contribute to the visual ecology of the animal in question. Existing methods that model the absorption of visual pigments use templates which correspond closely to data from thin cross-sections of photoreceptor cells. However, few modeling approaches use a single framework to incorporate physical parameters of real photoreceptors, which can be fused, and can form vertical tiers...
2017: PeerJ
https://www.readbyqxmd.com/read/28738418/molecular-pathway-to-protection-from-age-dependent-photoreceptor-degeneration-in-mef2-deficiency
#3
Saumya Nagar, Dorit Trudler, Scott R McKercher, Juan Piña-Crespo, Nobuki Nakanishi, Shu-Ichi Okamoto, Stuart A Lipton
Purpose: Photoreceptor degeneration in the retina is a major cause of blindness in humans. Elucidating mechanisms of degenerative and neuroprotective pathways in photoreceptors should afford identification and development of therapeutic strategies. Methods: We used mouse genetic models and improved methods for retinal explant cultures. Retinas were enucleated from Mef2d+/+ and Mef2d-/- mice, stained for MEF2 proteins and outer nuclear layer thickness, and assayed for apoptotic cells...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28733050/the-optical-imaging-of-an-idiopathic-paracentral-acute-middle-maculopathy-chinese-young-man-and-review-of-the-literatures
#4
REVIEW
Yanyan Chen, Yuedong Hu
We report a case of idiopathic paracentral acute middle maculopathy with typical optical imaging and clinical features. A 26-year-old Chinese policeman presented with a 20-day history of paracentral scotoma in the left eye after early wake-up and long-time working in front of computer the day before. He experienced sudden-onset strong flash in his left eye. Paracentral scotoma appeared in his left eye after 6hours of rest. The general history was negative. His best-corrected visual acuity was 20/20 OU. Anterior segment, dilated fundus examination, papillary evaluation and intraocular pressure were normal...
July 18, 2017: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/28729419/the-exocyst-is-required-for-photoreceptor-ciliogenesis-and-retinal-development
#5
Glenn P Lobo, Diana Fulmer, Lilong Guo, Xiaofeng Zuo, Yujing Dang, Seok-Hyung Kim, Yanhui Su, Kola George, Elisabeth Obert, Ben Fogelgren, Deepak Nihalani, Russell A Norris, Bärbel Rohrer, Joshua H Lipschutz
We previously have shown that the highly-conserved eight-protein exocyst trafficking complex is required for ciliogenesis in kidney tubule cells. We hypothesized here that ciliogenic programs are conserved across organs and species. To determine if renal primary ciliogenic programs are conserved in the eye, and to characterize the function and mechanisms by which the exocyst regulates eye development in zebrafish, we focused on exoc5, a central component of the exocyst complex, by analyzing both exoc5 zebrafish mutants, and photoreceptor-specific Exoc5 knockout mice...
July 20, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28724881/effect-of-carotid-endarterectomy-on-retinal-function-in-asymptomatic-patients-with-hemodynamically-significant-carotid-artery-stenosis
#6
Anna Machalińska, Aleksandra Kowalska-Budek, Miłosz Piotr Kawa, Arkadiusz Kazimierczak, Krzysztof Safranow, Marta Kirkiewicz, Paweł Rynio, Grażyna Wilk, Wojciech Lubiński, Piotr Gutowski, Bogusław Machaliński
INTRODUCTION    The corrective effect of carotid endarterectomy (CEA) on disturbed ophthalmic artery flow in patients with a significant internal carotid artery stenosis (ICAS) presenting with ocular ischemic syndrome (i.e., symptomatic patients) is well established. However, no clear evidence exists regarding the efficacy of CEA for improvement of neuro-retinal function in patients without symptoms of ocular ischemic syndrome. OBJECTIVES    We determined the effects of CEA on retinal function in asymptomatic patients with hemodynamically significant internal carotid artery stenosis...
July 19, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28721007/comparative-electrophysiological-responses-in-anisometropic-and-strabismic-amblyopic-children
#7
Luiz Cláudio Santos de Souza Lima, Adalmir Morterá Dantas, Guilherme Herzog Neto, Eduardo França Damasceno, Helena Parente Solari, Marcelo Palis Ventura
PURPOSE: To compare anisometropic hypermetropic amblyopic and strabismic amblyopic responses to pattern electroretinogram (PERG) and pattern visual evocated potential (PVEP). MATERIALS AND METHODS: Fifty-six patients - 18 hypermetropic anisometropic amblyopic children (mean age 9.70±2.5 years), 19 strabismic amblyopic children (mean age 10.30±2.6 years) and 19 normal emetropic subjects (mean age 10.10±2.2 years) - were enrolled in this study. After routine ophthalmic examination, PERG and PVEP were recorded in response to checks reversed at the rate of two reversals/second stimulating macular area...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28713831/new-mydriasis-free-electroretinogram-recorded-with-skin-electrodes-in-healthy-subjects
#8
Ken Asakawa, Kana Amino, Machiho Iwase, Yuki Kusayanagi, Akiho Nakamura, Rio Suzuki, Takashi Yuuki, Hitoshi Ishikawa
PURPOSE: To evaluate the reproducibility and consistency of the new mydriasis-free electroretinogram (ERG) with a skin electrode (RETeval) device, to determine the normative values of parameters, and to clarify the usefulness of pupil records to colored-light stimulus. METHODS: A total of 100 eyes of 50 healthy subjects (mean age, 21.4 years) were enrolled. The diagnostic parameters obtained by the RETeval device were examined under the following conditions. The reproducibility was determined with the coefficient of variation (CV)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28709891/neuroprotective-effects-of-methyl-3-4-dihydroxybenzoate-in-a-mouse-model-of-retinitis-pigmentosa
#9
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
#10
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
#11
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/28700703/correction-measurement-of-macular-structure-function-relationships-using-spectral-domain-optical-coherence-tomography-sd-oct-and-pattern-electroretinograms-perg
#12
Keunheung Park, Jinmi Kim, Jiwoong Lee
[This corrects the article DOI: 10.1371/journal.pone.0178004.].
2017: PloS One
https://www.readbyqxmd.com/read/28698719/long-term-safety-of-transplanting-human-bone-marrow-stromal-cells-into-the-extravascular-spaces-of-the-choroid-of-rabbits
#13
Adi Tzameret, Sapir E Kalish, Ifat Sher, Lea Twito, Amilia Meir, Itay Levy, Shlomo Margel, Iris Moroz, Mordechai Rosner, Avraham J Treves, Arnon Nagler, Michael Belkin, Ygal Rotenstreich
Incurable neuroretinal degeneration diseases cause severe vision loss and blindness in millions of patients worldwide. In previous studies, we demonstrated that transplanting human bone marrow stromal cells (hBMSCs) in the extravascular spaces of the choroid (EVSC) of the Royal College of Surgeon rats ameliorated retinal degeneration for up to 5 months. Assessing the safety of hBMSC treatment and graft survival in a large animal is a crucial step before initiating clinical trials. Here, we transplanted hBMSCs into the EVSC compartment of New Zealand White rabbits...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28698241/longitudinal-characterisation-of-function-and-structure-of-bietti-crystalline-dystrophy-report-on-a-novel-homozygous-mutation-in-cyp4v2
#14
Catherine M Lockhart, Travis B Smith, Paul Yang, Malini Naidu, Allan E Rettie, Abhinav Nath, Richard Weleber, Edward J Kelly
BACKGROUND: Bietti crystalline dystrophy (BCD) is a rare inherited disorder characterised by fine crystalline deposits in the corneal limbus and retinal posterior pole. In 2004, mutations in the CYP4V2 gene were identified as the cause of BCD. Here, we describe the report of a homozygous point mutation in a patient with BCD and provide detailed characterisation of functional and structural changes over 20 years. METHODS: At regular intervals, the patient underwent repeat ophthalmic evaluations...
July 11, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28689169/leber-congenital-amaurosis-early-onset-severe-retinal-dystrophy-clinical-features-molecular-genetics-and-therapeutic-interventions
#15
REVIEW
Neruban Kumaran, Anthony T Moore, Richard G Weleber, Michel Michaelides
Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified...
July 8, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28685103/light-modulates-ocular-complications-in-an-albino-rat-model-of-type-1-diabetes-mellitus
#16
Elias Andrawus, Gizi Veildbaum, Esther Zemel, Rina Leibu, Ido Perlman, Naim Shehadeh
PURPOSE: The purpose of the study was to assess potential interactions of light exposure and hyperglycemia upon ocular complications in diabetic rats. METHODS: Streptozotocin-induced (STZ-induced) diabetic rats (N = 39) and non-diabetic rats (N = 9) were distributed into eight groups according to the irradiance and color of the light phase during the 12/12-hour light/dark regime. Follow-up lasted 90 days and included assessment of cataract development and electroretinogram (ERG) recordings...
July 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28676323/visual-cues-of-oviposition-sites-and-spectral-sensitivity-of-cydia-strobilella-l
#17
Johan Jakobsson, Miriam J Henze, Glenn P Svensson, Olle Lind, Olle Anderbrant
We investigated whether the spruce seed moth (Cydia strobilella L., Tortricidae: Grapholitini), an important pest in seed orchards of Norway spruce (Picea abies (L.) Karst.), can make use of the spectral properties of its host when searching for flowers to oviposit on. Spectral measurements showed that the flowers, and the cones they develop into, differ from a background of P. abies needles by a higher reflectance of long wavelengths. These differences increase as the flowers develop into mature cones. Electroretinograms (ERGs) in combination with spectral adaptation suggest that C...
July 1, 2017: Journal of Insect Physiology
https://www.readbyqxmd.com/read/28672976/suncon-medical-adhesive-is-a-suitable-alternative-to-fibrin-glue-in-the-23g-minimally-invasive-vitrectomy
#18
Sha Liu, Suyan Li, Zhengpei Zhang, Sujuan Ji, Haiyang Liu
Fibrin glue is frequently used to close the incision of the sclera and conjunctiva. However, its use is limited due to its blood-borne origins. The study evaluated the suitability of Suncon medical adhesive as a replacement for fibrin glue in 23G minimally invasive vitrectomy as an animal study. One eye of Japanese white rabbits (total, 18 rabbits) received an intravitreal injection of 0.05 ml of Suncon medical adhesive, while the other eye was injected with 0.05 ml of saline and served as the control eye. Slit lamp, indirect ophthalmoscope and electroretinogram (ERG) examinations were carried out before and 28 days after the interventions...
July 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28666277/electroretinogram-findings-in-early-stage-sickle-cell-retinopathy-according-to-hemoglobin-type
#19
Caroline Bottin, Julie Racine, Matthieu P Robert, Salomon-Yves Cohen, Benedicte M J Merle, Camille Jung, Alexandra Miere, Violaine Caillaux, Eric H Souied, Olivia Zambrowski
Purpose: Although extensive clinical research has been performed on structural analysis of sickle cell (SC) retinopathy, functional aspects have been poorly investigated. Our purpose was to report full-field electroretinogram (ffERG) findings in patients with early SC retinopathy according to the following hemoglobin types: HbSS or HbSC (homozygous or heterozygous mutations, respectively). Methods: In this monocentric retrospective observational study, patients affected by nonproliferative SC retinopathy were included from November 2014 to April 2016...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28660874/occupational-exposure-to-fluorescent-light-in-a-pathologist-with-myopic-complications-and-asthenopia-onset
#20
Marco Quarato, Maria Franca Gatti, Luigi De Maria, Antonio Caputi, Fulvio Italo Maria Fucilli, Luigi Vimercati
BACKGROUND: Pathologic myopia is often associated with many complications, e.g. retinopathy, vitreous detachment and glaucoma. To date, occupational exposure of workers suffering from myopic co-morbidities to fluorescence light is not clearly linked to a worsening of retinal damage and eye symptoms. CASE REPORT: A 56-year-old pathologist, suffering from myopic retinopathy and other ocular comorbidities, asked for medical examination due to worsening vision and burning eyes, after occupational exposure to fluorescence microscope...
June 28, 2017: La Medicina del Lavoro
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