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https://www.readbyqxmd.com/read/28290600/possible-protective-role-of-the-abca4-gene-c-1268a-g-missense-variant-in-stargardt-disease-and-syndromic-retinitis-pigmentosa-in-a-sicilian-family-preliminary-data
#1
Rosalia D'Angelo, Luigi Donato, Isabella Venza, Concetta Scimone, Pasquale Aragona, Antonina Sidoti
In the wide horizon of ophthalmologically rare diseases among retinitis pigmentosa forms, Stargardt disease has gradually assumed a significant role due to its heterogeneity. In the present study, we aimed to support one of two opposite hypotheses concerning the causative or protective role of heterozygous c.1268A>G missense variant of the ABCA4 gene in Stargardt disease and in syndromic retinitis pigmentosa. This study was based on a family consisting of three members: proband, age 54, with high myopia, myopic chorioretinitis and retinal dystrophy; wife, age 65, with mild symptoms; daughter, age 29, asymptomatic...
March 10, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28288486/differential-disease-progression-in-atrophic-age-related-macular-degeneration-and-late-onset-stargardt-disease
#2
Moritz Lindner, Stanley Lambertus, Matthias M Mauschitz, Nathalie M Bax, Eveline Kersten, Anna Lüning, Jennifer Nadal, Steffen Schmitz-Valckenberg, Matthias Schmid, Frank G Holz, Carel B Hoyng, Monika Fleckenstein
Purpose: To compare the disease course of retinal pigment epithelium (RPE) atrophy secondary to age-related macula degeneratio (AMD) and late-onset Stargardt disease (STGD1). Methods: Patients were examined longitudinally by fundus autofluorescence, near-infrared reflectance imaging, and best-corrected visual acuity (BCVA). Areas of RPE atrophy were quantified using semi-automated software, and the status of the fovea was evaluated based on autofluorescence and near-infrared reflectance images...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28285324/novel-therapeutics-for-stargardt-disease
#3
REVIEW
Louise J Lu, Ji Liu, Ron A Adelman
DESCRIPTION OF SITUATION: Stargardt disease, an inherited macular dystrophy caused by mutations in the ABCA4 gene encoding a retinal transporter protein, is the most prevalent form of macular degeneration in children. Patients with Stargardt disease develop severe vision loss within their first or second decades of life, which progresses to irreversible decreased visual acuity in almost all cases. Presently, there are no standard treatments for Stargardt disease. However, encouraging progress has been made in the development of innovative approaches to preventing vision loss in Stargardt patients...
March 11, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28248825/ultrawidefield-autofluoresence-in-abca4-stargardt-disease
#4
Michael A Klufas, Irena Tsui, SriniVas R Sadda, Hamid Hosseini, Steven D Schwartz
PURPOSE: To report the ultrawidefield fundus autofluorescence (UWF-FAF) patterns in ABC4A Stargardt disease. METHODS: A retrospective cohort study of patients with a clinical diagnosis of Stargardt disease, confirmed ABCA4 genotype, and ultrawidefield fundus autofluorescence imaging using an Optos P200Tx. Four independent graders evaluated the images. Ultrawidefield fundus autofluorescence images were evaluated for the presence of posterior pole and peripheral findings, and were classified into one of three types (Type I: lesions confined to the macula with no peripheral findings; Type II: macular atrophy with flecks only in the periphery; Type III: macular atrophy and varying degrees of peripheral atrophy)...
February 28, 2017: Retina
https://www.readbyqxmd.com/read/28225724/outer-retinal-tubulation-in-retinal-dystrophies
#5
Imoro Z Braimah, Sunila Dumpala, Jay Chhablani
BACKGROUND/PURPOSE: To evaluate the occurrence and characteristics of outer retinal tubulation (ORT) in an Indian population with retinal dystrophies. METHODS: In this retrospective study, 309 eyes of 157 patients with retinal dystrophies including retinitis pigmentosa (RP, 183 eyes), Stargardt disease (STGD, 93 eyes) and Best disease (33 eyes) were reviewed. The demographic details, clinical data including visual acuity, treatment history and good quality spectral domain optical coherence tomography (SD-OCT) scans were collected...
March 2017: Retina
https://www.readbyqxmd.com/read/28219732/all-trans-retinal-levels-and-formation-of-lipofuscin-precursors-after-bleaching-in-rod-photoreceptors-from-wild-type-and-abca4-mice
#6
Leopold Adler, Chunhe Chen, Yiannis Koutalos
The accumulation of lipofuscin in the cells of the retinal pigment epithelium (RPE) is thought to play an important role in the development and progression of degenerative diseases of the retina. The bulk of RPE lipofuscin originates in reactions of the rhodopsin chromophore, retinal, with components of the photoreceptor outer segment. The 11-cis retinal isomer is generated in the RPE and supplied to rod photoreceptor outer segments where it is incorporated as the chromophore of rhodopsin. It is photoisomerized during light detection to all-trans and subsequently released by photoactivated rhodopsin as all-trans retinal, which is removed through reduction to all-trans retinol in a reaction requiring metabolic input in the form of NADPH...
February 17, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28198784/choroidal-thickness-in-patients-with-stargardt-disease
#7
Esra Vural, Ugur Acar, Mehmet K Sevinc, Mesut Erdurmus, Bekir Kucuk, Seckin Aykas, Gungor Sobaci
PURPOSE: To investigate the relationship between choroidal thicknesses (CT), central foveal thicknesses, multifocal electroretinography (mf-ERG) responses, and best-corrected visual acuity levels in patients with Stargardt disease (STGD). METHODS: A total of 30 eyes of 30 patients with STGD, and 30 age- and sex-matched healthy controls were included in the study. All participants underwent detailed ophthalmic examination including best-corrected visual acuity and spectral domain optical coherence tomography measurements, and also patients with STGD were performed mf-ERG...
February 14, 2017: Retina
https://www.readbyqxmd.com/read/28194534/the-impact-of-physician-level-drug-budgets-on-prescribing-behavior
#8
Katharina Elisabeth Fischer, Taika Koch, Karel Kostev, Tom Stargardt
To contain pharmaceutical spending, drug budgets have been introduced across health systems. Apart from analyzing whether drug budgets fulfill their overall goal of reducing spending, changes in the cost and quality of prescribing and the enforcement mechanisms put in place need evaluation to assess the effectiveness of drug budgets at the physician level. In this study, we aim to analyze the cost and quality of prescribing conditional on the level of utilization of the drug budget and in view of varying levels of enforcement in cases of overspending...
February 13, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/28151966/optical-coherence-tomography-angiography-findings-in-stargardt-disease
#9
Rodolfo Mastropasqua, Lisa Toto, Enrico Borrelli, Luca Di Antonio, Peter A Mattei, Alfonso Senatore, Marta Di Nicola, Cesare Mariotti
BACKGROUND: to assess vessel density of superficial capillary plexus (SCP), deep capillary plexus (DCP) and choriocapillaris (CC) in advanced Stargardt disease (STGD) using optical coherence tomography angiography (OCTA) and correlate these findings with macular function using pattern electroretinogram (PERG) and multifocal electroretinogram (mfERG). METHODS: Twelve patients (24 eyes) with advanced STGD underwent vessel densities and macular thickness measurements using OCTA...
2017: PloS One
https://www.readbyqxmd.com/read/28149006/role-of-lipids-in-retinal-vascular-and-macular-disorders
#10
REVIEW
Gunjan Prakash, Rachit Agrawal, Tanie Natung
Retinal diseases are significant by increasing problem in every part of the world. While excellent treatment has emerged for various retinal diseases, treatment for early disease is lacking due to an incomplete understanding of all molecular events. With aging, there is a striking accumulation of neutral lipids in Bruch's membrane. These neutral lipids leads to the creation of a lipid wall at the same locations where drusen and basal linear deposit, pathognomonic lesions of Age-related macular degeneration, subsequently form...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28147405/prominent-optic-disc-featured-in-inherited-retinopathy
#11
M G Todorova, R I Bojinova, C Valmaggia, D F Schorderet
Background We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). Patients and Methods A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. Results In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p...
February 1, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28121212/macular-hole-in-stargardt-disease-clinical-and-ultra-structural-observation
#12
Stanislao Rizzo, Dario Pasquale Mucciolo, Daniela Bacherini, Vittoria Murro, Lorenzo Vannozzi, Gianni Virgili, Daniele Bani, Andrea Sodi
PURPOSE: To report for the first time a case report of a Stargardt disease patient who developed a macular hole (MH) which was treated with a surgical approach. METHOD: Case report. RESULTS: After vitrectomy a complete closure of the MH was obtained and the best-corrected visual acuity remained stable. No complications were reported after one year of follow-up. An ultra-structural examination of the removed internal limiting membrane (ILM) and epiretinal membrane (ERM) was carried out under electron microscopy...
January 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28118664/mutation-spectrum-of-the-abca4-gene-in-335-stargardt-disease-patients-from-a-multicenter-german-cohort-impact-of-selected-deep-intronic-variants-and-common-snps
#13
Heidi L Schulz, Felix Grassmann, Ulrich Kellner, Georg Spital, Klaus Rüther, Herbert Jägle, Karsten Hufendiek, Philipp Rating, Cord Huchzermeyer, Maria J Baier, Bernhard H F Weber, Heidi Stöhr
Purpose: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrum and to assess effects of selected deep intronic and common genetic variants on disease, we performed a comprehensive sequence analysis in a large cohort of German STGD1 patients. Methods: DNA samples of 335 STGD1 patients were analyzed for ABCA4 mutations in its 50 coding exons and adjacent intronic sequences by resequencing array technology or next generation sequencing (NGS)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28115520/cellular-uptake-and-delivery-of-myeloperoxidase-to-lysosomes-promote-lipofuscin-degradation-and-lysosomal-stress-in-retinal-cells
#14
Gouri Yogalingam, Amanda R Lee, Donald S Mackenzie, Travis J Maures, Agnes Rafalko, Heather Prill, Geoffrey Y Berguig, Chuck Hague, Terri Christianson, Sean M Bell, Jonathan H LeBowitz
Neutrophil myeloperoxidase (MPO) catalyzes the H2O2-dependent oxidation of chloride anion to generate hypochlorous acid, a potent antimicrobial agent. Besides its well defined role in innate immunity, aberrant degranulation of neutrophils in several inflammatory diseases leads to redistribution of MPO to the extracellular space, where it can mediate tissue damage by promoting the oxidation of several additional substrates. Here, we demonstrate that mannose 6-phosphate receptor-mediated cellular uptake and delivery of MPO to lysosomes of retinal pigmented epithelial (RPE) cells acts to clear this harmful enzyme from the extracellular space, with lysosomal-delivered MPO exhibiting a half-life of 10 h...
March 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28099317/stargardt-disease-beyond-flecks-and-atrophy
#15
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
#16
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 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
#17
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 (ar) Stargardt disease (STGD1) and ar cone-rod dystrophy. 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 nontruncating ABCA4 variants is important. We collected all published ABCA4 variants from 3,928 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...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#18
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
#19
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
#20
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
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