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Stargardt's

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https://www.readbyqxmd.com/read/28099317/stargardt-disease-beyond-flecks-and-atrophy
#1
Jacob G Light, Masoud A Fard, Mehdi Yaseri, Paul Aiyetan, James T Handa, Katayoon B Ebrahimi
PURPOSE: To identify changes in the outer retina in areas without atrophy or flecks of Stargardt disease (STGD) using spectral-domain optical coherence tomography. METHODS: Twenty-three STGD patients and 26 control subjects were assessed for outer retina (from the outer border of Bruch membrane [BrM] to the inner border of the inner segment ellipsoid zone [EZ]), BrM-retinal pigment epithelium apex, the EZ thickness, and apical process interdigitation zone. RESULTS: Patients with STGD had increased BrM-EZ thickness in areas without apparent disease versus control subjects at 1,000, 1,500, 2,000, and 2,500 μm superior and 1,500 μm, 2,000 μm, and 2,500 μm inferior to the fovea (P < 0...
January 17, 2017: Retina
https://www.readbyqxmd.com/read/28095140/prom1-gene-variations-in-brazilian-patients-with-macular-dystrophy
#2
Mariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patricia Varela Lima Teixeira, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Martin, João Bosco Pesquero, Juliana Maria Ferraz Sallum
BACKGROUND: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. MATERIAL AND METHODS: This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28044389/in-silico-functional-meta-analysis-of-5-962-abca4-variants-in-3-928-retinal-dystrophy-cases
#3
Stéphanie S Cornelis, Nathalie M Bax, Jana Zernant, Rando Allikmets, Lars G Fritsche, Johan T den Dunnen, Muhammad Ajmal, Carel B Hoyng, Frans P M Cremers
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive Stargardt disease (STGD1) and cone-rod dystrophy (arCRD). The clinical outcome to a large degree depends on the severity of the variants. To provide an accurate prognosis and to select patients for novel treatments, functional significance assessment of non-truncating ABCA4 variants is important. We collected all published ABCA4 variants from 3,931 retinal dystrophy cases in a Leiden Open Variation Database, and compared their frequency in 3,270 Caucasian IRD cases with 33,370 non-Finnish European control individuals...
January 3, 2017: Human Mutation
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#4
Thomas C Hohman
As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to create animal models in which individual gene were altered to match the human mutations. The retina of these animals were then characterized to assess whether the mutated genes produced retinal phenotypes characteristic of disease-affected patients. Following the identification of a subpopulation of patients with the affected gene and the development of techniques for the viral gene transduction of retinal cells, it has become possible to deliver a copy of the normal gene into the retinal sites of the mutated genes...
December 30, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28002570/asymmetric-inter-eye-progression-in-stargardt-disease
#5
Stanley Lambertus, Nathalie M Bax, Joannes M M Groenewoud, Frans P M Cremers, Gert Jan van der Wilt, B Jeroen Klevering, Thomas Theelen, Carel B Hoyng
Purpose: Asymmetry in disease progression between left and right eyes can occur in Stargardt disease (STGD1), and this needs to be considered in novel therapeutic trials with a fellow-eye paired controlled design. This study investigated the inter-eye discordance of best-corrected visual acuity (BCVA) and progression of RPE atrophy in STGD1. Methods: We performed a retrospective cohort study collecting 68 STGD1 patients (136 eyes) with ≥1 ABCA4 variants and ≥0...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27984836/-do-we-still-need-electrophysiology-in-ophthalmology
#6
H Tegetmeyer
Electrophysiological methods in clinical ophthalmology include the full-field electroretinogram (ERG) for assessment of outer and middle retinal layers, pattern ERG (PERG) for assessment of ganglion cell function, the electrooculogram (EOG) for assessment of retinal pigment epithelium function, as well as visual evoked potentials (VEP) for assessment of the visual pathway, including the optic nerve and visual cortex. Multifocal recording techniques for ERG and VEP are used for tests within selected areas of the visual field...
December 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/27941641/potential-of-induced-pluripotent-stem-cells-ipscs-for-treating-age-related-macular-degeneration-amd
#7
REVIEW
Mark Fields, Hui Cai, Jie Gong, Lucian Del Priore
The field of stem cell biology has rapidly evolved in the last few decades. In the area of regenerative medicine, clinical applications using stem cells hold the potential to be a powerful tool in the treatment of a wide variety of diseases, in particular, disorders of the eye. Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) are promising technologies that can potentially provide an unlimited source of cells for cell replacement therapy in the treatment of retinal degenerative disorders such as age-related macular degeneration (AMD), Stargardt disease, and other disorders...
December 8, 2016: Cells
https://www.readbyqxmd.com/read/27939946/stargardt-disease-associated-mutation-spectrum-of-a-russian-federation-cohort
#8
Inna V Zolnikova, Vladimir V Strelnikov, Natalia A Skvortsova, Alexander S Tanas, Debmalya Barh, Elena V Rogatina, Irina V Egorova, Darja V Levina, Olga N Demenkova, Egor G Prikaziuk, Marianna E Ivanova
ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups. We found ABCA4 variations in 70.5% cases and one case with BEST1 variation...
December 9, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27875314/receptor-mer-tyrosine-kinase-proto-oncogene-mertk-is-not-required-for-transfer-of-bis-retinoids-to-the-retinal-pigmented-epithelium
#9
Grazyna Palczewska, Akiko Maeda, Marcin Golczak, Eisuke Arai, Zhiqian Dong, Lindsay Perusek, Brian Kevany, Krzysztof Palczewski
Accumulation of bis-retinoids in the retinal pigmented epithelium (RPE) is a hallmark of aging and retinal disorders such as Stargardt disease and age-related macular degeneration. These aberrant fluorescent condensation products, including di-retinoid-pyridinium-ethanolamine (A2E), are thought to be transferred to RPE cells primarily through phagocytosis of the photoreceptor outer segments. However, we observed by two-photon microscopy that mouse retinas incapable of phagocytosis due to a deficiency of the c-Mer proto-oncogene tyrosine kinase (Mertk) nonetheless contained fluorescent retinoid condensation material in their RPE...
December 23, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#10
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27813578/analysis-of-elovl4-and-prph2-genes-in-turkish-stargardt-disease-patients
#11
H Bardak, M Gunay, Y Erçalık, Y Bardak, H Ozbas, O Bagci, A Ayata, M Sönmez, C Alagöz
Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4, and three in exon 3 of PRPH2 were detected. All sequence modifications in both ELOVL4 and PRPH2 were recorded, including those of a non-pathogenic nature...
October 24, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27775217/the-intronic-abca4-c-5461-10t-c-variant-frequently-seen-in-patients-with-stargardt-disease-causes-splice-defects-and-reduced-abca4-protein-level
#12
Ingvild Aukrust, Ragnhild W Jansson, Cecilie Bredrup, Hilde E Rusaas, Siren Berland, Agnete Jørgensen, Marte G Haug, Eyvind Rødahl, Gunnar Houge, Per M Knappskog
PURPOSE: Despite being the third most common ABCA4 variant observed in patients with Stargardt disease, the functional effect of the intronic ABCA4 variant c.5461-10T>C is unknown. The purpose of this study was to investigate the molecular effect of this variant. METHODS: Fibroblast samples from patients carrying the ABCA4 variant c.5461-10T>C were analysed by isolating total RNA, followed by real-time polymerase chain reaction (RT-PCR) using specific primers spanning the variant...
October 24, 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27739528/clinical-and-genetic-analyses-reveal-novel-pathogenic-abca4-mutations-in-stargardt-disease-families
#13
Bing Lin, Xue-Bi Cai, Zhi-Li Zheng, Xiu-Feng Huang, Xiao-Ling Liu, Jia Qu, Zi-Bing Jin
Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lipofuscin-like substance in the retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe the clinical and genetic features of Stargardt patients from four unrelated Chinese cohorts...
October 14, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27730010/test-retest-variability-of-functional-and-structural-parameters-in-patients-with-stargardt-disease-participating-in-the-sar422459-gene-therapy-trial
#14
Maria A Parker, Dongseok Choi, Laura R Erker, Mark E Pennesi, Paul Yang, Elvira N Chegarnov, Peter N Steinkamp, Catherine L Schlechter, Claire-Marie Dhaenens, Saddek Mohand-Said, Isabelle Audo, Jose Sahel, Richard G Weleber, David J Wilson
PURPOSE: The goal of this analysis was to determine the test-retest variability of functional and structural measures from a cohort of patients with advanced forms of Stargardt Disease (STGD) participating in the SAR422459 (NCT01367444) gene therapy clinical trial. METHODS: Twenty-two participants, aged 24 to 66, diagnosed with advanced forms of STGD, with at least one pathogenic ABCA4 mutation on each chromosome participating in the SAR422459 (NCT01367444) gene therapy clinical trial, were screened over three visits within 3 weeks or less...
October 2016: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/27699567/health-economic-evaluation-of-home-telemonitoring-for-copd-in-germany-evidence-from-a-large-population-based-cohort
#15
Dmitrij Achelrod, Jonas Schreyögg, Tom Stargardt
INTRODUCTION: Telemonitoring for COPD has gained much attention thanks to its potential of reducing morbidity and mortality, healthcare utilisation and costs. However, its benefit with regard to clinical and economic outcomes remains to be clearly demonstrated. OBJECTIVE: To analyse the effect of Europe's largest COPD telemonitoring pilot project on direct medical costs, health resource utilisation and mortality at 12 months. METHODS: We evaluated a population-based cohort using administrative data...
October 3, 2016: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/27699414/progression-of-late-onset-stargardt-disease
#16
Stanley Lambertus, Moritz Lindner, Nathalie M Bax, Matthias M Mauschitz, Jennifer Nadal, Matthias Schmid, Steffen Schmitz-Valckenberg, Anneke I den Hollander, Bernhard H F Weber, Frank G Holz, Gert Jan van der Wilt, Monika Fleckenstein, Carel B Hoyng
Purpose: Identification of sensitive biomarkers is essential to determine potential effects of emerging therapeutic trials for Stargardt disease. This study aimed to describe the natural history of late-onset Stargardt, and demonstrates the accuracy of retinal pigment epithelium (RPE) atrophy progression as an outcome measure. Methods: We performed a retrospective cohort study collecting multicenter data from 47 patients (91 eyes) with late-onset Stargardt, defined by clinical phenotype, at least one ABCA4 mutation, and age at disease onset ≥ 45 years...
October 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27637197/use-of-embryonic-stem-cells-to-treat-severe-eye-diseases
#17
Justo Aznar, Julio Tudela
BACKGROUND: The use of stem cells in regenerative medicine has major therapeutic potential. Recent clinical trials using cells derived from human stem cells are showing encouraging results, although these should be assessed with the necessary caution. DISCUSSION: Some media have reported the results of these trials without due care, perhaps creating expectations that do not match the reality of the facts. This paper describes some of the recent advances in the use of human stem cells, particularly those made in the area of ophthalmology, and more specifically, in Stargardt's disease and age-related macular degeneration (AMD)...
May 2016: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/27628426/vascular-abnormalities-in-patients-with-stargardt-disease-assessed-with-optical-coherence-tomography-angiography
#18
Maurizio Battaglia Parodi, Maria Vittoria Cicinelli, Alessandro Rabiolo, Luisa Pierro, Gianluigi Bolognesi, Francesco Bandello
AIMS: To describe the vascular abnormalities in patients affected by Stargardt disease (STGD1) by means of optical coherence tomography angiography (OCT-A). METHODS: Cross-sectional case series, with the following inclusion criteria: diagnosis of STGD1, clear ocular media, and stable fixation. Patients underwent best-corrected visual acuity (BCVA), biomicroscopy, applanation tonometry, short-wavelength fundus autofluorescence (SW-FAF) (HRA Heidelberg, Germany), 3×3 Swept Source OCT-A (Topcon Corporation, Japan)...
September 14, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27628196/health-benefit-assessment-of-pharmaceuticals-an-international-comparison-of-decisions-from-germany-england-scotland-and-australia
#19
Katharina Elisabeth Fischer, Thomas Heisser, Tom Stargardt
BACKGROUND: Little is known on the performance of the newly introduced health benefit assessment process, AMNOG, in Germany compared to other health technology assessment agencies. OBJECTIVE: We analysed whether decisions of the German Federal Joint Committee (FJC) deviate from decisions of the UK National Institute for Health and Care Excellence (NICE), the Scottish Medicines Consortium (SMC) and the Australian Pharmaceutical Benefits Advisory Committee (PBAC)...
August 9, 2016: Health Policy
https://www.readbyqxmd.com/read/27576696/-consensus-statement-management-of-oral-anticoagulation-for-stroke-prevention-in-patients-with-nonvalvular-atrial-fibrillation
#20
Thomas Maria Helms, Sigmund Silber, Andreas Schäfer, Florian Masuhr, Frederick Palm, Harald Darius, Karsten Schrör, Dietmar Bänsch, Peter Bramlage, Johannes Hankowitz, Christoph A Karle, Tom Stargardt, Joachim Weil, Johann Christoph Geller
With the introduction of edoxaban last year in Germany, four nonvitamin K antagonist oral anticoagulants are now available for stroke prevention in patients with nonvalvular atrial fibrillation. These novel oral anticoagulants (NOAC) represent an attractive new option compared to vitamin K antagonists (e.g., warfarin or phenprocoumon) due to simple use and fewer interactions with other drugs or food. Therefore, no INR monitoring and dosage adjustments are required for NOAC. The compelling clinical advantage of NOAC is the dramatic risk reduction of hemorhagic stroke and intracranial bleeding compared to current standard...
September 2016: Herzschrittmachertherapie & Elektrophysiologie
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