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https://www.readbyqxmd.com/read/29053884/looking-into-cognitive-impairment-in-primary-progressive-multiple-sclerosis
#1
Maria Petracca, James Sumowski, Michelle Fabian, Aaron Miller, Fred Lublin, Matilde Inglese
BACKGROUND: Cognitive impairment in primary-progressive multiple sclerosis (PP-MS) is correlated with global brain atrophy. Unfortunately, brain volumes computation requires processing resources not widely available in clinical practice. Therefore we decided to test the predictive role of retinal atrophy metrics on cognitive decline, applying them as proxy of grey matter (GM) atrophy in PP-MS. METHODS: Twenty-five PP-MS patients completed the Brief International Cognitive Assessment for MS (BICAMS) and underwent spectral-domain OCT and 3...
October 20, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29053808/the-impact-of-supplemental-antioxidants-on-visual-function-in-nonadvanced-age-related-macular-degeneration-a-head-to-head-randomized-clinical-trial
#2
Kwadwo Owusu Akuffo, Stephen Beatty, Tunde Peto, Jim Stack, Jim Stringham, David Kelly, Irene Leung, Laura Corcoran, John M Nolan
Purpose: The purpose of this study was to evaluate the impact of supplemental macular carotenoids (including versus not including meso-zeaxanthin) in combination with coantioxidants on visual function in patients with nonadvanced age-related macular degeneration. Methods: In this study, 121 participants were randomly assigned to group 1 (Age-Related Eye Disease Study 2 formulation with a low dose [25 mg] of zinc and an addition of 10 mg meso-zeaxanthin; n = 60) or group 2 (Age-Related Eye Disease Study 2 formulation with a low dose [25 mg] of zinc; n = 61)...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29053761/the-transcription-factor-prdm16-marks-a-single-retinal-ganglion-cell-subtype-in-the-mouse-retina
#3
Sergio Groman-Lupa, Joseph Adewumi, Ko Uoon Park, Joseph A Brzezinski Iv
Purpose: Retinal ganglion cells (RGC) can be categorized into roughly 30 distinct subtypes. How these subtypes develop is poorly understood, in part because few unique subtype markers have been characterized. We tested whether the Prdm16 transcription factor is expressed by RGCs as a class or within particular ganglion cell subtypes. Methods: Embryonic and mature retinal sections and flatmount preparations were examined by immunohistochemistry for Prdm16 and several other cell type-specific markers...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29053642/allelic-expression-imbalance-in-the-human-retinal-transcriptome-and-potential-impact-on-inherited-retinal-diseases
#4
Pablo Llavona, Michele Pinelli, Margherita Mutarelli, Veer Singh Marwah, Simone Schimpf-Linzenbold, Sebastian Thaler, Efdal Yoeruek, Jan Vetter, Susanne Kohl, Bernd Wissinger
Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, and genetic factors. Cis-acting expression quantitative trait loci (cis-eQTLs) can be implicated in the regulation of genes by favoring or hampering the expression of one allele over the other. Thus, the presence of such loci elicits allelic expression imbalance (AEI) that can be traced by massive parallel sequencing techniques...
October 20, 2017: Genes
https://www.readbyqxmd.com/read/29053603/clinical-and-genetic-evaluation-of-a-cohort-of-pediatric-patients-with-severe-inherited-retinal-dystrophies
#5
Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
We performed a clinical and genetic characterization of a pediatric cohort of patients with inherited retinal dystrophy (IRD) to identify the most suitable cases for gene therapy. The cohort comprised 43 patients, aged between 2 and 18 years, with severe isolated IRD at the time of presentation. The ophthalmological characterization also included assessment of the photoreceptor layer integrity in the macular region (ellipsoid zone (EZ) band). In parallel, we carried out a targeted, next-generation sequencing (NGS)-based analysis using a panel that covers over 150 genes with either an established or a candidate role in IRD pathogenesis...
October 20, 2017: Genes
https://www.readbyqxmd.com/read/29052608/a-novel-and-faster-method-of-manual-grading-to-measure-choroidal-thickness-using-optical-coherence-tomography
#6
K X Cheong, L W Lim, K Z Li, C S Tan
PurposeChoroidal thickness (CT) measurements are typically obtained from manual segmentation of optical coherence tomography (OCT) B-scans. This method is time-consuming. We aimed to describe a novel and faster technique to obtain CT measurements.Patients and methodsIn a prospective cohort study of 200 healthy eyes, Spectral-Domain OCT with enhanced depth imaging were performed with the Spectralis OCT using standardised imaging protocols. The OCT scans were independently graded by reading centre-certified graders...
October 20, 2017: Eye
https://www.readbyqxmd.com/read/29052317/defective-ciliogenesis-in-inpp5e-related-joubert-syndrome
#7
Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L David, Carlos R Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Heller, Ellen F Macnamara, Meral Gunay-Aygun, Wadih M Zein, William A Gahl, May Christine V Malicdan
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance of the brainstem and cerebellum on axial MRI. Core clinical manifestations include hypotonia, tachypnea/apnea, ataxia, ocular motor apraxia, and developmental delay of varying degrees. In addition, a subset of patients has retinal dystrophy, chorioretinal colobomas, hepatorenal fibrocystic disease, and polydactyly. Joubert syndrome exhibits genetic heterogeneity, with mutations identified in more than 30 genes, including INPP5E, a gene encoding inositol polyphosphate 5-phosphatase E, which is important in the development and stability of the primary cilium...
October 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29051845/central-retinal-artery-occlusion-acute-management-and-treatment
#8
Nitish Mehta, Rosa Dolz Marco, Raquel Goldhardt, Yasha Modi
PURPOSE OF REVIEW: This review will seek to answer if advances in ophthalmic imaging and evolution of treatment modalities have shed further light on the epidemiology, pathophysiology, diagnosis, and acute management of acute CRAO. RECENT FINDINGS: Imaging characteristics of acute CRAO have been further characterized with the use of fluorescein angiography, optical coherence tomography (OCT), OCT-angiography, and indocyanine-green angiography. Layer segmentation of OCT imaging has found inner retinal layer hyper-reflectivity to be a common finding in acute CRAO...
June 2017: Current Ophthalmology Reports
https://www.readbyqxmd.com/read/29051833/anatomical-and-functional-correlation-in-susac-syndrome-multimodal-imaging-assessment
#9
Alexandre G B Azevedo, Luiz H Lima, Léo Müller, Flávio Rezende Filho, Cláudio Zett, André Maia, Luiz Roisman
BACKGROUND: Susac's syndrome (SuS) is an uncommon disease characterized by retinal microangiopathy that may be assessed more accurately with optical coherence tomography angiography (OCTA), a new imaging technique which provides a retinal microvasculature map. The purpose of this case report is to describe the multimodal imaging findings of SuS correlating OCTA with functional tests. CASE PRESENTATION: Retrospective review of one case with clinical and imaging evidence of SuS...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/29051326/multimodal-imaging-of-small-hard-retinal-drusen-in-young-healthy-adults
#10
Hilde R Pedersen, Stuart J Gilson, Alfredo Dubra, Inger Christine Munch, Michael Larsen, Rigmor C Baraas
BACKGROUND: Small hard macular drusen can be observed in the retina of adults as young as 18 years of age. Here, we seek to describe the in vivo topography and geometry of these drusen. METHODS: Retinal images were acquired in young, healthy adults using colour fundus photography, spectral domain optic coherence tomography (SD-OCT), reflectance flood-illuminated adaptive optic ophthalmoscopy (AO flood) and reflectance adaptive optic scanning light ophthalmoscopy (AOSLO) in both confocal and non-confocal split-detection modalities...
October 19, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29051041/retinal-vasculature-and-5-year-metabolic-syndrome-among-women-with-gestational-diabetes-mellitus
#11
Ling-Jun Li, Kok Hian Tan, Izzuddin M Aris, Ryan Eyn Kidd Man, Alfred Tau Liang Gan, Yap Seng Chong, Seang Mei Saw, Peter Gluckman, Tien Yin Wong, Ecosse Lamoureux
BACKGROUND: Women with gestational diabetes mellitus (GDM) are at greater risk of metabolic syndrome (MetS). We studied the association between second-trimester retinal microvasculature and 5-year MetS incidence in women with GDM. METHODS: A total of 142 mothers with GDM were recruited and followed up 5 years after delivery. Retinal photography was performed at 26-28 weeks gestation and metabolic outcomes were assessed at the 5-year postpartum follow-up visit. GDM and MetS were defined based on World Health Organization (WHO) guidelines and Adults Treatment Panel (ATP) III guidelines, respectively...
October 16, 2017: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29051013/pericellular-interphotoreceptor-matrix-dictates-outer-retina-critical-surface-tension
#12
Federico Gonzalez-Fernandez, Mark Fornalik, Mary Alice Garlipp, Priscilla Gonzalez-Fernandez, Dongjin Sung, Anne Meyer, Robert Baier
Retinal detachments create two pathological surfaces, the surface of the outer neural retinal, and an apical retinal-pigmented epithelium (RPE) surface. The physicochemical properties of these two new surfaces are poorly understood. At a molecular level little is known how detachments form, how to optimize reattachment, or prevent extension of the detachment. A major limitation is lack of information about the biophysical consequences of the retina-RPE separation. The primary challenge is determining the molecular properties of the pathological interface surfaces...
October 16, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/29050924/-progression-of-nerve-fiber-layer-defects-in-retrobulbar-optic-neuritis-by-the-macular-ganglion-cell-complex
#13
D Hong, C Bosc, F Chiambaretta
INTRODUCTION: Recent studies with SD OCT had shown early axonal damage to the macular ganglion cell complex (which consists of the three innermost layers of the retina: Inner Plexiform Layer [IPL], Ganglion Cell Layer [GCL], Retinal Nerve Fibre layer [RNFL]) in optic nerve pathology. Retrobulbar optic neuritis (RBON), occurring frequently in demyelinating diseases, leads to atrophy of the optic nerve fibers at the level of the ganglion cell axons, previously described in the literature...
October 16, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29050915/decellularized-matrix-of-adipose-derived-mesenchymal-stromal-cells-enhanced-retinal-progenitor-cell-proliferation-via-the-akt-erk-pathway-and-neuronal-differentiation
#14
Jing Ji, Dandan Zhang, Wei Wei, Bingqiao Shen, Yi Zhang, Yuyao Wang, Zhimin Tang, Ni Ni, Hao Sun, Jiaqiang Liu, Xianqun Fan, Ping Gu
BACKGROUND AIMS: Retinal progenitor cells (RPCs) are a promising cell therapy treatment for retinal degenerative diseases. However, problems with limited proliferation ability and differentiation preference toward glia rather than neurons restrict the clinical application of these RPCs. The extracellular matrix (ECM) has been recognized to provide an appropriate microenvironment to support stem cell adhesion and direct cell behaviors, such as self-renewal and differentiation. METHODS: In this study, decellularized matrix of adipose-derived mesenchymal stromal cells (DMA) was manufactured using a chemical agent method (0...
October 16, 2017: Cytotherapy
https://www.readbyqxmd.com/read/29050745/a-spectrum-of-retinal-vasculature-measures-and-coronary-artery-disease
#15
Sarah B Wang, Paul Mitchell, Gerald Liew, Tien Yin Wong, Kevin Phan, Aravinda Thiagalingam, Nichole Joachim, George Burlutsky, Bamini Gopinath
BACKGROUND AND AIMS: We aimed to comprehensively describe a spectrum of retinal vessel measures including fractal dimension (Df) and their associations with indices of coronary artery disease (CAD) extent and severity, as well as hypertension and diabetes. METHODS: The Australian Heart Eye Study (AHES) is an observational study that surveyed 1680 participants presenting to a tertiary referral hospital for the evaluation of potential CAD by coronary angiography. A range of newer retinal vessel geometric measures (Df, curvature tortuosity, and branching angle) were quantified from retinal photographs using semi-automated software, the Singapore 'I' Vessel Assessment (SIVA) tool...
October 10, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29050191/-the-ocular-involvement-in-the-transthyretin-related-familial-amyloid-polyneuropathy
#16
H Y Lin, R P Dai
Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP), which is caused by mutant TTR, is a rare but fatal autosomal dominant disease. TTR is synthesized by the liver (95%) , the choroid plexus of the brain and the retinal pigment epithelium. FAP leads to peripheral neuropathy, and the main ocular manifestations are vitreous opacity (yellowish cotton-like), secondary glaucoma and keratoconjunctivitis sicca. Liver transplantation has proven to be the most effective treatment for TTR-FAP. Nowadays, tafamidis is the only drug approved for TTR-FAP (early stage)...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29050187/-cytokine-analysis-of-aqueous-humor-in-aids-patients
#17
W J Kong, C G Guo, L Y Xie, W B Wei, H W Dong, C Chen, K F Du
Objective: To explore the Cytokine of aqueous humor in AIDS patients with different eye diseases. Methods: A case-control study including 38 patients who was diagnosed as acquired immunodeficiency syndrome(AIDS) at Infectious Center and Department of Ophthalmology in Beijing You'an Hospital, Capital Medical University. And 16 cases of 38 patients were cytomegalovirus retinitis (CMVR), 14 cases were HIV-related retinal disease, and 8 cases presented as normal. A series of tests were performed including vision acuity check, intraocular pressure, fundus photography, blood cell count of CD4+ T lymphocyte and the content of cytokines in aqueous humor by Luminex 200(TM) liquid chip analyzer...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29050186/-influent-factors-for-treating-procedure-of-cytomegalovirus-retinitis-after-allogeneic-bone-marrow-hematopoietic-stem-cell-transplantation
#18
H Miao, J Hou
Objective: To explore clinical and laboratory factors that influencing treating procedure of cytomegalovirus retinitis (CMVR) after allogeneic bone marrow hematopoietic stem cell transplantation (HSCT). Methods: This is a retrospective case series study. A total of 9 CMVR patients (15 eyes) between January 2016 and March 2017 were included in this study. All patients received intravenous or oral ganciclovir, together with intravitreous injection of ganciclovir alone or combined with foscanet sodium. One day before the first injection, aqueous humor samples from the affected eyes were collected, and CMV-DNA and interleukin-8 (IL-8) level were examined...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29050185/-optical-coherence-tomography-angiography-of-acute-vogt-koyanagi-harada-disease
#19
S S Jia, C Zhao, D Gong, Z Chen, M F Zhang
Objective: To measure vascular density in retinal and choroidal capillary layers by optical coherence tomography angiography (OCTA) and to explore their potential clinical values in Vogt-Koyanagi-Harada disease (VKH). Methods: This is a cross-sectional case-control study. Twenty-one acute VKH cases presented to Peking Union Medical College Hospital between April 2015 and July 2015 and 49 healthy controls were enrolled in this study. OCTA was performed with a split-spectrum amplitude-decorrelation angiography-optical coherence tomography (SSADA-OCT) system borrowed from Optovue Inc...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29050184/-choice-of-treatment-for-diabetic-macular-edema
#20
L Yang, J Zhang
Diabetic macular edema (DME), which is the consequence of the failed blood-retinal barrier, has become a leading cause of blindness in diabetic patients. Vascular endothelial growth factors (VEGF) and a series of inflammatory factors participate in the pathophysiology of DME. Laser photocoagulation was accepted as the first-line therapy before anti-VEGF therapy was proved to be more effective by several clinical trials. Anti-VEGF therapy has been regarded as the standard treatment, but there are still lots of cases resistant to anti-VEGF therapy...
October 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
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