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Stargardt's

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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
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28571903/next-generation-sequencing-in-the-diagnosis-of-stargardt-s-disease
#5
B Jimenez-Rolando, S Noval, I Rosa-Perez, E Mata Diaz, A Del Pozo, C Ibañez, J C Silla, V E F Montaño, R Martin-Arenas, E Vallespin
INTRODUCTION: Stargardt's disease is the most frequent form of inherited macular dystrophy in children and adults. It is a genetic eye disorder caused by mutations in ABCA4 gene with an autosomal recessive inheritance. ABCA4 is a very polymorphic and large gene containing 50 exons. The development of next generation sequencing (NGS) can be used for the genetic diagnosis of this disease. PATIENTS AND METHODS: A report is presented on two patients with a clinical diagnosis of Stargardt's disease whose genetic confirmation was performed by a NGS panel of 298 genes...
May 29, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28549516/visual-acuity-change-over-12-months-in-the-prospective-progression-of-atrophy-secondary-to-stargardt-disease-progstar-study-progstar-report-number-6
#6
Xiangrong Kong, Rupert W Strauss, Artur V Cideciyan, Michel Michaelides, José-Alain Sahel, Beatriz Munoz, Mohamed Ahmed, Ann M Ervin, Sheila K West, Janet K Cheetham, Hendrik P N Scholl
PURPOSE: To estimate the yearly rate of change of best-corrected visual acuity (BCVA) and the risk of loss 1 line or more over 1 year and to identify risk factors for BCVA loss in patients with Stargardt disease (STGD1). DESIGN: Multicenter, prospective cohort study. PARTICIPANTS: Two hundred fifty-nine patients (489 eyes) with molecularly confirmed STGD1 enrolled at 9 centers in the United States and Europe. METHODS: Participants were followed up every 6 months, and data at the baseline and 6- and 12-month visits were analyzed...
May 23, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28542697/incidence-of-atrophic-lesions-in-stargardt-disease-in-the-progression-of-atrophy-secondary-to-stargardt-disease-progstar-study-report-no-5
#7
Rupert W Strauss, Beatriz Muñoz, Alex Ho, Anamika Jha, Michel Michaelides, Saddek Mohand-Said, Artur V Cideciyan, David Birch, Amir H Hariri, Muneeswar G Nittala, SriniVas Sadda, Hendrik P N Scholl
Importance: Outcome measures that are sensitive to disease progression are needed as clinical end points for future treatment trials in Stargardt disease. Objective: To examine the incidence of atrophic lesions of the retinal pigment epithelium in patients with Stargardt disease as determined by fundus autofluorescence imaging. Design, Setting, and Participants: In this retrospective multicenter cohort study, 217 patients 6 years and older at baseline at tertiary referral centers in Europe, the United States, and the United Kingdom who were harboring disease-causing variants in the adenosine triphosphate (ATP)-binding cassette subfamily A member 4 (ABCA4) gene and who met the following criteria were enrolled: (1) at least 1 well-demarcated area of atrophy with a minimum diameter of 300 µm, with the total area of all atrophic lesions being less than or equal to 12 mm2 in at least 1 eye at the most recent visit, and (2) fundus autofluorescence images for at least 2 visits with a minimum of 6 months between at least 2 visits...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28542693/macular-sensitivity-measured-with-microperimetry-in-stargardt-disease-in-the-progression-of-atrophy-secondary-to-stargardt-disease-progstar-study-report-no-7
#8
Etienne M Schönbach, Yulia Wolfson, Rupert W Strauss, Mohamed A Ibrahim, Xiangrong Kong, Beatriz Muñoz, David G Birch, Artur V Cideciyan, Gesa-Astrid Hahn, Muneeswar Nittala, Janet S Sunness, SriniVas R Sadda, Sheila K West, Hendrik P N Scholl
Importance: New outcome measures for treatment trials for Stargardt disease type 1 (STGD1) and other macular diseases are needed. Microperimetry allows mapping of light sensitivity of the macula and provides topographic information on visual function beyond visual acuity. Objective: To measure and analyze retinal light sensitivity of the macula in STGD1 using fundus-controlled perimetry (microperimetry). Design, Setting, and Participants: This was a multicenter prospective cohort study...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28542669/the-importance-of-outcome-measure-research-in-stargardt-disease
#9
Catherine Cukras, Brett G Jeffrey
No abstract text is available yet for this article.
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28513254/peripapillary-sparing-in-rdh12-associated-leber-congenital-amaurosis
#10
Aakriti Garg, Winston Lee, Jesse D Sengillo, Rando Allikmets, Kartik Garg, Stephen H Tsang
BACKGROUND: Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS: We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. RESULTS: Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients...
May 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28507511/distribution-of-elovl4-in-the-developing-and-adult-mouse-brain
#11
David M Sherry, Blake R Hopiavuori, Megan A Stiles, Negar S Rahman, Kathryn G Ozan, Ferenc Deak, Martin-Paul Agbaga, Robert E Anderson
ELOngation of Very Long chain fatty acids (ELOVL)-4 is essential for the synthesis of very long chain-fatty acids (fatty acids with chain lengths ≥ 28 carbons). The functions of ELOVL4 and its very long-chain fatty acid products are poorly understood at present. However, mutations in ELOVL4 cause neurodevelopmental or neurodegenerative diseases that vary according to the mutation and inheritance pattern. Heterozygous inheritance of different ELOVL4 mutations causes Stargardt-like Macular Dystrophy or Spinocerebellar Ataxia type 34...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/28437526/prominin-1-is-a-novel-regulator-of-autophagy-in-the-human-retinal-pigment-epithelium
#12
Sujoy Bhattacharya, Jinggang Yin, Christina S Winborn, Qiuhua Zhang, Junming Yue, Edward Chaum
Purpose: Prominin-1 (Prom1) is a transmembrane glycoprotein, which is expressed in stem cell lineages, and has recently been implicated in cancer stem cell survival. Mutations in the Prom1 gene have been shown to disrupt photoreceptor disk morphogenesis and cause an autosomal dominant form of Stargardt-like macular dystrophy (STGD4). Despite the apparent structural role of Prom1 in photoreceptors, its role in other cells of the retina is unknown. The purpose of this study is to investigate the role of Prom1 in the highly metabolically active cells of the retinal pigment epithelium (RPE)...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28430335/reading-ability-and-quality-of-life-in-stargardt-disease
#13
Vittoria Murro, Andrea Sodi, Giovanni Giacomelli, Dario P Mucciolo, Monica Pennino, Gianni Virgili, Stanislao Rizzo
PURPOSE: To study the reading performance of patients with Stargardt disease (STGD) and the relationship between clinical vision measurements and vision-related quality of life (VRQOL). METHODS: We studied both eyes of 16 patients with STGD. Each patient was examined for best-corrected visual acuity (Early Treatment Diabetic Retinopathy Study [ETDRS]), reading ability (MNREAD and REX charts), contrast sensitivity (Pelli-Robson charts), fixation study (MP1 microperimeter), and VRQOL (25-item National Eye Institute Visual Function Questionnaire [NEI VFQ-25])...
April 14, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28423431/-treatment-and-secondary-prevention-of-venous-thromboembolism-change-in-oral-anticoagulation
#14
Thomas-Maria Helms, Dietrich Gulba, Ingo Ahrens, Andreas Schäfer, Johannes Hankowitz, Peter Kuhlencordt, Hans-Peter Lipp, Sigrid Nikol, Hanno Riess, Tom Stargardt, Peter Bramlage
With the recent approval of the fourth direct non vitamin K dependent oral anticoagulant (NOAC) edoxaban the range of available NOACs for the treatment of venous thromboembolism (VTE) has expanded. Shortly thereafter, two updated guidelines for the prevention and treatment of VTE have been published. In these NOACs are listed as equal anticoagulants to low-molecular weight heparin (LMWH), or fondaparinux (FDX), and VKA for the initial or maintenance treatment of VTE. All NOACs are approved for the maintenance therapy after VTE and two NOACs (rivaroxaban and apixaban) for the initial treatment in addition in an increased dose...
April 19, 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28365912/multimodal-analysis-of-the-preferred-retinal-location-and-the-transition-zone-in-patients-with-stargardt-disease
#15
Tommaso Verdina, Vivienne C Greenstein, Andrea Sodi, Stephen H Tsang, Tomas R Burke, Ilaria Passerini, Rando Allikmets, Gianni Virgili, Gian Maria Cavallini, Stanislao Rizzo
PURPOSE: The purpose of our study was to investigate morpho-functional features of the preferred retinal location (PRL) and the transition zone (TZ) in a series of patients with recessive Stargardt disease (STGD1). METHODS: Fifty-two STGD1 patients with at least one ABCA4 mutation, atrophy of the central macula (MA) and an eccentric PRL were recruited for the study. Microperimetry, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) were performed...
July 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28355279/highly-sensitive-measurements-of-disease-progression-in-rare-disorders-developing-and-validating-a-multimodal-model-of-retinal-degeneration-in-stargardt-disease
#16
Stanley Lambertus, Nathalie M Bax, Ana Fakin, Joannes M M Groenewoud, B Jeroen Klevering, Anthony T Moore, Michel Michaelides, Andrew R Webster, Gert Jan van der Wilt, Carel B Hoyng
BACKGROUND: Each inherited retinal disorder is rare, but together, they affect millions of people worldwide. No treatment is currently available for these blinding diseases, but promising new options-including gene therapy-are emerging. Arguably, the most prevalent retinal dystrophy is Stargardt disease. In each case, the specific combination of ABCA4 variants (> 900 identified to date) and modifying factors is virtually unique. It accounts for the vast phenotypic heterogeneity including variable rates of functional and structural progression, thereby potentially limiting the ability of phase I/II clinical trials to assess efficacy of novel therapies with few patients...
2017: PloS One
https://www.readbyqxmd.com/read/28348233/complement-modulation-in-the-retinal-pigment-epithelium-rescues-photoreceptor-degeneration-in-a-mouse-model-of-stargardt-disease
#17
Tamara L Lenis, Shanta Sarfare, Zhichun Jiang, Marcia B Lloyd, Dean Bok, Roxana A Radu
Recessive Stargardt macular degeneration (STGD1) is caused by mutations in the gene for the ABCA4 transporter in photoreceptor outer segments. STGD1 patients and Abca4(-/-) (STGD1) mice exhibit buildup of bisretinoid-containing lipofuscin pigments in the retinal pigment epithelium (RPE), increased oxidative stress, augmented complement activation and slow degeneration of photoreceptors. A reduction in complement negative regulatory proteins (CRPs), possibly owing to bisretinoid accumulation, may be responsible for the increased complement activation seen on the RPE of STGD1 mice...
April 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
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
#18
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...
April 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
#19
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
#20
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
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