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Stargardt disease

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https://www.readbyqxmd.com/read/28044389/in-silico-functional-meta-analysis-of-5-962-abca4-variants-in-3-928-retinal-dystrophy-cases
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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/27699414/progression-of-late-onset-stargardt-disease
#13
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
#14
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
#15
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/27552849/costs-and-outcomes-of-the-german-disease-management-programme-dmp-for-chronic-obstructive-pulmonary-disease-copd-a-large-population-based-cohort-study
#16
Dmitrij Achelrod, Tobias Welte, Jonas Schreyögg, Tom Stargardt
INTRODUCTION: To curb costs and improve health outcomes in chronic obstructive pulmonary disease (COPD), a nationwide disease management programme (DMP) was introduced in Germany in 2005. Yet, its effectiveness has not been comprehensively evaluated. OBJECTIVE: To examine the effects of the German COPD DMP over three years on costs and health resource utilisation from the payer perspective, process quality, morbidity and mortality. METHODS: A retrospective, population-based cohort study design is applied, using administrative data...
September 2016: Health Policy
https://www.readbyqxmd.com/read/27533784/focal-choroidal-excavation-in-retinal-dystrophies
#17
Imoro Zeba Braimah, Shruthi Rapole, Sunila Dumpala, Jay Chhablani
AIM: To investigate the presence of focal choroidal excavation (FCE) in patients with retinitis pigmentosa (RP), Stargardt's disease (STGD), and Best disease in the Indian population. METHODS: This retrospective consecutive case series included 309 eyes of 157 patients with RP (183 eyes), STGD (93 eyes), and Best disease (33 eyes) with good-quality, enhanced-depth spectral domain optical coherence tomography scans. Comprehensive ophthalmic examination data were collected...
August 17, 2016: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/27491360/stargardt-disease-clinical-features-molecular-genetics-animal-models-and-therapeutic-options
#18
REVIEW
Preena Tanna, Rupert W Strauss, Kaoru Fujinami, Michel Michaelides
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored...
January 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27475635/cost-utility-analysis-of-telemonitoring-interventions-for-patients-with-chronic-obstructive-pulmonary-disease-copd-in-germany
#19
Florian Hofer, Dmitrij Achelrod, Tom Stargardt
BACKGROUND: Chronic obstructive pulmonary disease (COPD) poses major challenges for health care systems. Previous studies suggest that telemonitoring could be effective in preventing hospitalisations and hence reduce costs. OBJECTIVE: The aim was to evaluate whether telemonitoring interventions for COPD are cost-effective from the perspective of German statutory sickness funds. METHODS: A cost-utility analysis was conducted using a combination of a Markov model and a decision tree...
December 2016: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/27456564/-relationship-between-structural-and-functional-changes-in-retina-in-stargardt-disease
#20
N L Sheremet, I A Ronzina, N V Zhorzholadze, V V Strel'nikov
AIM: To assess the relationship between structural abnormalities of the junction of the internal and external segments of photoreceptors (IS/OS junction) and functional changes. MATERIAL AND METHODS: The study enrolled 45 patients (90 eyes) with Stargardt disease, of them 22 women and 23 men. Ophthalmic examination included color vision test, static perimetry with a 60° field of view, electrophysiological studies, namely, ganzfeld and multifocal electroretinography (gERG and mfERG), autofluorescence, and optical coherence tomography (OCT)...
May 2016: Vestnik Oftalmologii
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