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Stargardt's

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https://www.readbyqxmd.com/read/28920007/towards-treatment-of-stargardt-disease-workshop-organized-and-sponsored-by-the-foundation-fighting-blindness
#1
REVIEW
Avery E Sears, Paul S Bernstein, Artur V Cideciyan, Carel Hoyng, Peter Charbel Issa, Krzysztof Palczewski, Philip J Rosenfeld, SriniVas Sadda, Ulrich Schraermeyer, Janet R Sparrow, Ilyas Washington, Hendrik P N Scholl
Accumulation of fluorescent metabolic byproducts of the visual (retinoid) cycle is associated with photoreceptor and retinal pigment epithelial cell death in both Stargardt disease and atrophic (nonneovascular) age-related macular degeneration (AMD). As a consequence of this observation, small molecular inhibitors of enzymes in the visual cycle were recently tested in clinical trials as a strategy to protect the retina and retinal pigment epithelium in patients with atrophic AMD. To address the clinical translational needs for therapies aimed at both diseases, a workshop organized by the Foundation Fighting Blindness was hosted by the Department of Pharmacology at Case Western Reserve University on February 17, 2017, at the Tinkham Veale University Center, Cleveland, OH, USA...
September 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28919188/-contribution-of-multimodal-imaging-in-the-various-stages-of-stargardt-disease
#2
L El Matri, Y Falfoul, M Kortli, A Hassairi, H Charfi, A Turki, F Kort, A Chebil
PURPOSE: To describe the contribution of multimodal imaging in the various stages of Stargardt disease (STGD). PATIENTS AND METHODS: We retrospectively reviewed 46 eyes of 23 STGD patients with identified ABCA4 mutations. All patients underwent a complete ophthalmic examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein angiography (FA) and Indocyanine green angiography (ICGA). RESULTS: The mean age of patients was 25...
September 14, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28912967/correlation-of-macular-focal-electroretinogram-with-ellipsoid-zone-extension-in-stargardt-disease
#3
Edoardo Abed, Giorgio Placidi, Luigi Calandriello, Marco Piccardi, Francesca Campagna, Matteo Bertelli, Angelo Maria Minnella, Maria Cristina Savastano, Benedetto Falsini
Stargardt disease (STGD1) is the most common cause of inherited juvenile macular degeneration. This disease is characterized by a progressive accumulation of lipofuscin in the outer retina and subsequent loss of photoreceptors and retinal pigment epithelium. The aim of this study was to evaluate the relationship between cone photoreceptor function and structure in STGD1. Macular function was assessed by visual acuity measurement and focal electroretinogram (FERG) recording while spectral domain optical coherence tomography (SD-OCT) imaging was performed to evaluate the integrity of photoreceptors...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28905541/the-role-of-new-imaging-methods-in-managing-age-related-macular-degeneration
#4
Stephen James Talks, Akhunzada Muhammad Aftab, Imran Ashfaq, Taha Soomro
The use of imaging for age-related macular degeneration (AMD) depends on how it benefits clinical management and on reimbursement. The latter should relate to the former. This review assesses how different forms of AMD can be imaged and what information this provides. For nonneovascular AMD high-resolution optical coherence tomography (OCT), autofluorescence, and near infrared imaging can identify the type of drusen, such as reticular pseudodrusen, which influences prognosis, and the amount of atrophy, for which phase 3 trials are underway...
September 14, 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28890726/next-generation-sequencing-aided-rapid-molecular-diagnosis-of-occult-macular-dystrophy-in-a-chinese-family
#5
Yu-He Qi, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Jun-Yi Chen, Wan-Jing Huang, Guo-Hong Tian, Min Wang, De-Kang Gan, Ji-Hong Wu, Ge-Zhi Xu
Purpose: To show early, rapid and accurate molecular diagnosis of occult macular dystrophy (OMD) in a four-generation Chinese family with inherited macular dystrophy. Methods: In the current study, we comprehensively screened 130 genes involved in common inherited non-syndromic eye diseases with next-generation sequencing-based target capture sequencing of the proband of a four-generation Chinese family that has suffered from maculopathy without a definitive diagnosis for over 10 years. Variants were filtered and analyzed to identify possible disease-causing variants before validation by Sanger sequencing...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28885670/novel-abca4-mutation-leads-to-loss-of-a-conserved-c-terminal-motif-implications-for-predicting-pathogenicity-based-on-genetic-testing
#6
Nutsuchar Wangtiraumnuay, Jenina Capasso, Mai Tsukikawa, Alex Levin, Esther Biswas-Fiss
PURPOSE: Mutations in the ABCA4 gene result in a broad spectrum of severe retinal degeneration, including Stargardt macular dystrophy, fundus flavimaculatus, autosomal recessive retinitis pigmentosa, and cone-rod dystrophy. In addition to the detection of well-characterized mutations, genetic testing frequently yields novel variants of unknown significance. The purpose of this report is to describe an approach to aid in the assessment of genetic variants of unknown significance. CASE REPORT: We report an 11-year-old girl with Stargardt disease harboring novel compound heterozygous deletions of ABCA4 (c...
September 8, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28840994/identification-of-the-prom1-mutation-p-r373c-in-a-korean-patient-with-autosomal-dominant-stargardt-like-macular-dystrophy
#7
Jong Min Kim, Chung Lee, Ga In Lee, Nayoung K D Kim, Chang Seok Ki, Woong Yang Park, Byoung Joon Kim, Sang Jin Kim
Stargardt-like macular dystrophy 4 (STGD4) is a rare macular dystrophy characterized by bull's eye atrophy of the macula and the underlying retinal pigment epithelium. Patients with STGD4 show decreased central vision, which often progresses to severe vision loss. The PROM1 gene encodes prominin-1, which is a 5-transmembrane glycoprotein also known as CD133 and is involved in photoreceptor disk morphogenesis. PROM1 mutations have been identified as genetic causes for STGD4 and other retinal degenerations such as retinitis pigmentosa...
November 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28800018/the-expanding-clinical-spectrum-of-choroidal-excavation-in-macular-dystrophies
#8
Maurizio Battaglia Parodi, Giuseppe Casalino, Pierluigi Iacono, Ugo Introini, Tatevik Adamyan, Francesco Bandello
PURPOSE: To assess the prevalence and the clinical course of focal choroidal excavation (FCE) in patients affected by macular dystrophies. METHODS: Prospective case series. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. The presence of choroidal neovascularization (CNV) was assessed on the basis of the leakage detected on fluorescein angiography. RESULTS: A total of 162 eyes from 81 patients with macular dystrophy were included in the study...
August 9, 2017: Retina
https://www.readbyqxmd.com/read/28738413/reliability-and-repeatability-of-cone-density-measurements-in-patients-with-stargardt-disease-and-rpgr-associated-retinopathy
#9
COMPARATIVE STUDY
Preena Tanna, Melissa Kasilian, Rupert Strauss, James Tee, Angelos Kalitzeos, Sergey Tarima, Alexis Visotcky, Alfredo Dubra, Joseph Carroll, Michel Michaelides
Purpose: To assess reliability and repeatability of cone density measurements by using confocal and (nonconfocal) split-detector adaptive optics scanning light ophthalmoscopy (AOSLO) imaging. It will be determined whether cone density values are significantly different between modalities in Stargardt disease (STGD) and retinitis pigmentosa GTPase regulator (RPGR)-associated retinopathy. Methods: Twelve patients with STGD (aged 9-52 years) and eight with RPGR-associated retinopathy (aged 11-31 years) were imaged using both confocal and split-detector AOSLO simultaneously...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28728169/correlations-between-macular-skin-and-serum-carotenoids
#10
Christopher D Conrady, James P Bell, Brian M Besch, Aruna Gorusupudi, Kelliann Farnsworth, Igor Ermakov, Mohsen Sharifzadeh, Maia Ermakova, Werner Gellermann, Paul S Bernstein
Purpose: Ocular and systemic measurement and imaging of the macular carotenoids lutein and zeaxanthin have been employed extensively as potential biomarkers of AMD risk. In this study, we systematically compare dual wavelength retinal autofluorescence imaging (AFI) of macular pigment with skin resonance Raman spectroscopy (RRS) and serum carotenoid levels in a clinic-based population. Methods: Eighty-eight patients were recruited from retina and general ophthalmology practices from a tertiary referral center and excluded only if they did not have all three modalities tested, had a diagnosis of macular telangiectasia (MacTel) or Stargardt disease, or had poor AFI image quality...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28726568/double-hyperautofluorescent-ring-on-fundus-autofluorescence-in-abca4
#11
Maria Fernanda Abalem, Cynthia X Qian, Kari Branham, Dana Schlegel, Abigail T Fahim, Naheed W Khan, John R Heckenlively, K Thiran Jayasundera
We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression. At the time of his initial visit, the 6-year-old boy presented with 20/200 OD (right eye) and 20/150 OS (left eye), symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence...
July 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28712622/pharmaceutical-pricing-in-germany-how-is-value-determined-within-the-scope-of-amnog
#12
Victoria Desirée Lauenroth, Tom Stargardt
OBJECTIVES: To analyze how value is determined within the scope of the German Pharmaceutical Restructuring Act, which came into effect in 2011. METHODS: Using data from all pharmaceuticals that had undergone assessment, appraisal, and price negotiations in Germany before June 30, 2016, we applied generalized linear model regression to analyze the impact of added benefit on the difference between negotiated prices and the prices of comparators. Data were extracted from the Federal Joint Committee's appraisals and price databases...
July 2017: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/28689222/insights-into-autofluorescence-patterns-in-stargardt-macular-dystrophy-using-ultra-wide-field-imaging
#13
Vinod Kumar
PURPOSE: To characterize autofluorescence (AF) patterns occurring in Stargardt macular dystrophy (STGD1) using ultra-wide-field (UWF) imaging. METHODS: This paper is a cross-sectional observational study of 22 eyes of 11 patients (mean age 23.44 years) with Stargardt disease-fundus flavimaculatus who presented with decrease of vision at a tertiary eye care center. UWF short-wave AF images were obtained from all the patients using an Optos TX200 instrument. The main outcome measures were to assess patterns of AF changes seen on UWF AF imaging...
July 8, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28678597/disposition-profiling-and-identification-of-emixustat-and-its-metabolites-in-humans
#14
Michael E Fitzsimmons, Gang Sun, Vladimir Kuksa, Michael J Reid
Emixustat is a small molecule that potently inhibits retinal pigment epithelium 65 isomerohydrolase. Emixustat is in clinical development for the treatment of various retinopathies (i.e. Stargardt disease and diabetic retinopathy). A human absorption, distribution, metabolism, and excretion (ADME) study was conducted with a single dose of [(14)C]-emixustat in healthy male subjects. Total (14)C content in plasma, urine, and faeces was determined using accelerator mass spectrometry (AMS), and metabolic profiles in pooled plasma and urine were investigated by both HPLC-AMS and 2D LC-MS/MS...
July 5, 2017: Xenobiotica; the Fate of Foreign Compounds in Biological Systems
https://www.readbyqxmd.com/read/28673870/fluorescence-lifetime-imaging-ophthalmoscopy
#15
REVIEW
Chantal Dysli, Sebastian Wolf, Mikhail Y Berezin, Lydia Sauer, Martin Hammer, Martin S Zinkernagel
Imaging techniques based on retinal autofluorescence have found broad applications in ophthalmology because they are extremely sensitive and noninvasive. Conventional fundus autofluorescence imaging measures fluorescence intensity of endogenous retinal fluorophores. It mainly derives its signal from lipofuscin at the level of the retinal pigment epithelium. Fundus autofluorescence, however, can not only be characterized by the spatial distribution of the fluorescence intensity or emission spectrum, but also by a characteristic fluorescence lifetime function...
June 30, 2017: Progress in Retinal and Eye Research
https://www.readbyqxmd.com/read/28663928/unsupervised-identification-of-cone-photoreceptors-in-non-confocal-adaptive-optics-scanning-light-ophthalmoscope-images
#16
Christos Bergeles, Adam M Dubis, Benjamin Davidson, Melissa Kasilian, Angelos Kalitzeos, Joseph Carroll, Alfredo Dubra, Michel Michaelides, Sebastien Ourselin
Precise measurements of photoreceptor numerosity and spatial arrangement are promising biomarkers for the early detection of retinal pathologies and may be valuable in the evaluation of retinal therapies. Adaptive optics scanning light ophthalmoscopy (AOSLO) is a method of imaging that corrects for aberrations of the eye to acquire high-resolution images that reveal the photoreceptor mosaic. These images are typically graded manually by experienced observers, obviating the robust, large-scale use of the technology...
June 1, 2017: Biomedical Optics Express
https://www.readbyqxmd.com/read/28632405/reading-performance-improvements-in-patients-with-central-vision-loss-without-age-related-macular-degeneration-after-undergoing-personalized-rehabilitation-training
#17
María B Coco-Martín, Alberto López-Miguel, Rubén Cuadrado, Agustín Mayo-Iscar, Azael J Herrero, José C Pastor, Miguel J Maldonado
PURPOSE: To evaluate the efficacy of a reading rehabilitation program (RRP) in patients with central visual loss (CVL) and assess the impact of the RRP on the quality of life (QoL). METHODS: The RRP included four in-office and 39 in-home training sessions over 6 weeks. Reading speed, duration, and font size were evaluated during each in-office session. The subjective perception of the QoL was assessed before and after the RRP using the short version of a questionnaire (World Health Organization Quality of Life)...
June 20, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28613213/ellipsoid-zone-mapping-and-outer-retinal-assessment-in-stargardt-disease
#18
Sruthi Arepalli, Elias I Traboulsi, Justis P Ehlers
PURPOSE: To quantify and correlate ellipsoid zone and photoreceptor outer segment changes with visual acuity in Stargardt disease. METHODS: An institutional review board-approved study of 32 eyes with Stargardt disease was performed. After spectral domain optical coherence tomography, the macular cube was exported into a novel analysis tool and volumetric assessment from the ellipsoid zone to the retinal pigment epithelium was performed. Using this information, mapping was completed with en face representation of the height between the ellipsoid zone and retinal pigment epithelium...
June 6, 2017: Retina
https://www.readbyqxmd.com/read/28611652/a-novel-abca4-mutation-associated-with-a-late-onset-stargardt-disease-phenotype-a-hypomorphic-allele
#19
Cindy S Kaway, Madeleine K M Adams, Kevin Sean Jenkins, Christopher J Layton
BACKGROUND: Stargardt disease (STGD) is the most common juvenile hereditary macular dystrophy. In the majority of cases, the diagnosis is made prior to 20 years of age and usually leads to loss of central vision. Late-onset STGD affects a smaller number of patients. Identifying genetic changes which could be associated with clinically important differences in severity or presentation of the disease is important for understanding the mechanisms of visual loss and for planning future therapeutic approaches...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28576211/morpho-functional-analysis-of-stargardt-disease-for-reading
#20
Paola Sasso, Andrea Scupola, Valeria Silvestri, Filippo M Amore, Edoardo Abed, Luigi Calandriello, Gabriela Grimaldi, Aldo Caporossi
OBJECTIVE: To analyze Stargardt disease (STGD) by morpho-functional examination and investigate the relationship between morpho-functional measures and reading performance. DESIGN: Observational case series study. PARTICIPANTS: Fifteen patients with STGD. METHODS: Twenty-six eyes of 15 patients underwent complete ophthalmic evaluation. Spectral domain optical coherence tomography, fundus autofluorescence (FAF), best corrected visual acuity (BCVA), and microperimetric examinations were performed...
June 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
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