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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
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
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
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
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
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
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
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
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
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
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...
August 4, 2016: British Journal of Ophthalmology
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...
July 30, 2016: Applied Health Economics and Health Policy
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
Marco Pellegrini, Alessandra Acquistapace, Marta Oldani, Matteo Giuseppe Cereda, Andrea Giani, Mariano Cozzi, Giovanni Staurenghi
PURPOSE: To assess the status of choriocapillaris in eyes with macular atrophy secondary to age-related macular degeneration (AMD) (geographic atrophy [GA]) and Stargardt disease (STGD) using optical coherence tomography angiography (OCTA). DESIGN: Prospective, observational case series. PARTICIPANTS: A total of 14 patients (20 eyes) affected by GA and 10 patients (20 eyes) affected by STGD. METHODS: Each patient underwent a complete ophthalmological examination including fundus autofluorescence (FAF), dynamic simultaneous fluorescein angiography (FA) and indocyanine green angiography (ICGA), enhanced-depth imaging optical coherence tomography (EDI-OCT) (HRA+OCT Spectralis, Heidelberg Engineering, Heidelberg, Germany), and OCTA using AngioVue technologies (Optovue Inc, Freemont, CA)...
September 2016: Ophthalmology
Natsuko Nakamura, Kaoru Fujinami, Yoshinobu Mizuno, Toru Noda, Kazushige Tsunoda
PURPOSE: Full-field electroretinograms (ERGs) are used to evaluate retinal function in patients with various types of hereditary and acquired retinal diseases. However, ERG recordings require relatively invasive procedures, including pupillary dilation and the use of contact lens electrodes. Thus, it would be helpful to have a simpler and noninvasive screening method. The purpose of this study was to determine whether a new, handheld, portable ERG device, RETeval™, can be used to screen patients for cone dysfunction...
2016: Clinical Ophthalmology
Li Xuan Tan, Kimberly A Toops, Aparna Lakkaraju
The retinal pigment epithelium (RPE) is a key site of injury in inherited and age-related macular degenerations. Abnormal activation of the complement system is a feature of these blinding diseases, yet how the RPE combats complement attack is poorly understood. The complement cascade terminates in the cell-surface assembly of membrane attack complexes (MACs), which promote inflammation by causing aberrant signal transduction. Here, we investigated mechanisms crucial for limiting MAC assembly and preserving cellular integrity in the RPE and asked how these are compromised in models of macular degeneration...
August 2, 2016: Proceedings of the National Academy of Sciences of the United States of America
S R De Silva, P C Issa, M S Singh, D M Lipinski, A O Barnea-Cramer, N J Walker, A R Barnard, M W Hankins, R E MacLaren
Gene therapy using adeno-associated viral vectors (AAV) for the treatment of retinal degenerations has shown safety and efficacy in clinical trials. However, very high levels of vector expression may be necessary for the treatment of conditions such as Stargardt disease where a dual vector approach is potentially needed, or in optogenetic strategies for end-stage degeneration in order to achieve maximal light sensitivity. In this study, we assessed two vectors with single capsid mutations, rAAV2/2(Y444F) and rAAV2/8(Y733F) in their ability to transduce retina in the Abca4(-/-) and rd1 mouse models of retinal degeneration...
July 14, 2016: Gene Therapy
Paolo Melillo, Francesco Testa, Settimio Rossi, Valentina Di Iorio, Ada Orrico, Alberto Auricchio, Francesca Simonelli
PURPOSE: We investigated the progression of Stargardt disease (STGD1) over a multiyear follow-up by evaluating the macular lesion area as computed by an automatic algorithm from spectral-domain optical coherence tomography (SD-OCT). METHODS: We reviewed medical records of STGD1 patients, with a clinical and molecular diagnosis of STGD1 at a single institution, who underwent best-corrected visual acuity (BCVA), fundus photography, SD-OCT, full-field electroretinography, and, when available, fundus autofluorescence (FAF)...
July 1, 2016: Investigative Ophthalmology & Visual Science
Xiangrong Kong, Rupert W Strauss, Michel Michaelides, Artur V Cideciyan, José-Alain Sahel, Beatriz Muñoz, Sheila West, Hendrik P N Scholl
PURPOSE: To examine the association between characteristics of Stargardt disease and visual acuity (VA), to estimate the longitudinal rate of VA loss, and to identify risk factors for VA loss. DESIGN: Retrospective, multicenter cohort study. PARTICIPANTS: A total of 176 patients (332 eyes) with molecularly and clinically confirmed Stargardt disease enrolled from the United States and Europe. METHODS: Standardized data report forms were used to collect retrospective data on participants' characteristics and best-corrected or presenting VA from medical charts...
September 2016: Ophthalmology
Winston Lee, Kaspar Schuerch, Yajing Xie, Jana Zernant, Stephen H Tsang, Janet R Sparrow, Rando Allikmets
PURPOSE: To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes. METHODS: Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for varying laser power detector sensitivity, spectral-domain optical coherence tomography, and full-field ERG testing...
June 1, 2016: Investigative Ophthalmology & Visual Science
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