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https://www.readbyqxmd.com/read/29736279/phenotypic-progression-of-stargardt-disease-in-a-large-consanguineous-tunisian-family-harboring-new-abca4-mutations
#1
Yousra Falfoul, Imen Habibi, Ahmed Turki, Ahmed Chebil, Asma Hassairi, Daniel F Schorderet, Leila El Matri
To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull's eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers...
2018: Journal of Ophthalmology
https://www.readbyqxmd.com/read/29735674/defective-phagosome-motility-and-degradation-in-cell-nonautonomous-rpe-pathogenesis-of-a-dominant-macular-degeneration
#2
Julian Esteve-Rudd, Roni A Hazim, Tanja Diemer, Antonio E Paniagua, Stefanie Volland, Ankita Umapathy, David S Williams
Stargardt macular dystrophy 3 (STGD3) is caused by dominant mutations in the ELOVL4 gene. Like other macular degenerations, pathogenesis within the retinal pigment epithelium (RPE) appears to contribute to the loss of photoreceptors from the central retina. However, the RPE does not express ELOVL4 , suggesting photoreceptor cell loss in STGD3 occurs through two cell nonautonomous events: mutant photoreceptors first affect RPE cell pathogenesis, and then, second, RPE dysfunction leads to photoreceptor cell death...
May 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29725296/the-p2y-12-receptor-antagonist-ticagrelor-reduces-lysosomal-ph-and-autofluorescence-in-retinal-pigmented-epithelial-cells-from-the-abca4-mouse-model-of-retinal-degeneration
#3
Wennan Lu, Néstor M Gómez, Jason C Lim, Sonia Guha, Ann O'Brien-Jenkins, Erin E Coffey, Keith E Campagno, Stuart A McCaughey, Alan M Laties, Leif G Carlsson, Claire H Mitchell
The accumulation of partially degraded lipid waste in lysosomal-related organelles may contribute to pathology in many aging diseases. The presence of these lipofuscin granules is particularly evident in the autofluorescent lysosome-associated organelles of the retinal pigmented epithelial (RPE) cells, and may be related to early stages of age-related macular degeneration. While lysosomal enzymes degrade material optimally at acidic pH levels, lysosomal pH is elevated in RPE cells from the ABCA4-/- mouse model of Stargardt's disease, an early onset retinal degeneration...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29701254/photoreceptor-cells-as-a-source-of-fundus-autofluorescence-in-recessive-stargardt-disease
#4
Maarjaliis Paavo, Winston Lee, Rando Allikmets, Stephen Tsang, Janet R Sparrow
Bisretinoid fluorophores form in photoreceptor outer segments from nonenzymatic reactions of vitamin A aldehyde. The short-wavelength autofluorescence (SW-AF) of fundus flecks in recessive Stargardt disease (STGD1) suggests a connection to these fluorophores. Through multimodal imaging, we sought to elucidate this link. Flecks observed in SW-AF images often colocalized with foci exhibiting reduced or absent near-infrared autofluorescence signal, the source of which is melanin in retinal pigment epithelial (RPE) cells...
April 27, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29699983/correspondence-between-retinotopic-cortical-mapping-and-conventional-functional-and-morphological-assessment-of-retinal-disease
#5
Markus Ritter, Allan Hummer, Anna A Ledolter, Graham E Holder, Christian Windischberger, Ursula M Schmidt-Erfurth
PURPOSE: The present study describes retinotopic mapping of the primary visual cortex using functional MRI (fMRI) in patients with retinal disease. It addresses the relationship between fMRI data and data obtained by conventional assessment including microperimetry (MP) and structural imaging. METHODS: Initial testing involved eight patients with central retinal disease (Stargardt disease, STGD) and eight with peripheral retinal disease (retinitis pigmentosa, RP), who were examined using fMRI and MP (Nidek MP-1)...
April 26, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29679170/light-localization-with-low-contrast-targets-in-a-patient-implanted-with-a-suprachoroidal-transretinal-stimulation-retinal-prosthesis
#6
Takao Endo, Takashi Fujikado, Masakazu Hirota, Hiroyuki Kanda, Takeshi Morimoto, Kohji Nishida
PURPOSE: To evaluate the improvement in targeted reaching movements toward targets of various contrasts in a patient implanted with a suprachoroidal-transretinal stimulation (STS) retinal prosthesis. METHODS: An STS retinal prosthesis was implanted in the right eye of a 42-year-old man with advanced Stargardt disease (visual acuity: right eye, light perception; left eye, hand motion). In localization tests during the 1-year follow-up period, the patient attempted to touch the center of a white square target (visual angle, 10°; contrast, 96, 85, or 74%) displayed at a random position on a monitor...
April 20, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29625839/choroidal-and-sub-retinal-pigment-epithelium-caverns-multimodal-imaging-and-correspondence-with-friedman-lipid-globules
#7
Rosa Dolz-Marco, Jay P Glover, Orly Gal-Or, Katie M Litts, Jeffrey D Messinger, Yuhua Zhang, Mariano Cozzi, Marco Pellegrini, K Bailey Freund, Giovanni Staurenghi, Christine A Curcio
PURPOSE: To survey Friedman lipid globules by high-resolution histologic examination and to compare with multimodal imaging of hyporeflective caverns in eyes with geographic atrophy (GA) secondary to age-related macular (AMD) and other retinal diseases. DESIGN: Histologic survey of donor eyes with and without AMD. Clinical case series with multimodal imaging analysis. PARTICIPANTS: Donor eyes (n = 139; 26 with early AMD, 13 with GA, 40 with nAMD, 52 with a healthy macula, and 8 with other or unknown characteristics) and 41 eyes of 28 participants with GA (n = 16), nAMD (n = 8), Stargardt disease (n = 4), cone dystrophy (n = 2), pachychoroid spectrum (n = 6), choroidal hemangioma (n = 1), and healthy eyes (n = 4)...
April 3, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29625472/visual-cortex-activation-in-patients-with-stargardt-disease
#8
Paolo Melillo, Anna Prinster, Valentina Di Iorio, Gaia Olivo, Francesco Maria D'Alterio, Sirio Cocozza, Ada Orrico, Mario Quarantelli, Francesco Testa, Arturo Brunetti, Francesca Simonelli
Purpose: Primary visual cortex (PVC) contains a retinotopic map in which the central visual field (CVF) is highly magnified compared to the peripheral field. Several studies have used functional magnetic resonance imaging (fMRI) in patients with macular degeneration to assess the reorganization of visual processing in relationship with the development of extrafoveal preferred retinal locus (PRL). We evaluated the functional response in PVC and its correlation with retinal parameters in patients with Stargardt disease due to ABCA4 mutations (STGD1)...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29614888/service-quality-and-perceived-customer-value-in-community-pharmacies
#9
Dennis Guhl, Katharina E Blankart, Tom Stargardt
A patient's perception of the service provided by a health care provider is essential for the successful delivery of health care. This study examines the value created by community pharmacies-defined as perceived customer value-in the prescription drug market through varying elements of service quality. We develop a path model that describes the relationship between service elements and perceived customer value. We then analyze the effect of perceived customer value on customer satisfaction and loyalty. We use data obtained from 289 standardized interviews on respondents' prescription fill in the last six months in Germany...
January 1, 2018: Health Services Management Research
https://www.readbyqxmd.com/read/29602770/lipocalin-2-plays-an-important-role-in-regulating-inflammation-in-retinal-degeneration
#10
Tanu Parmar, Vipul M Parmar, Lindsay Perusek, Anouk Georges, Masayo Takahashi, John W Crabb, Akiko Maeda
It has become increasingly important to understand how retinal inflammation is regulated because inflammation plays a role in retinal degenerative diseases. Lipocalin 2 (LCN2), an acute stress response protein with multiple innate immune functions, is increased in ATP-binding cassette subfamily A member 4 ( Abca4 ) -/- retinol dehydrogenase 8 ( Rdh8 ) -/- double-knockout mice, an animal model for Stargardt disease and age-related macular degeneration (AMD). To examine roles of LCN2 in retinal inflammation and degeneration, Lcn2-/- Abca4-/- Rdh8-/- triple-knockout mice were generated...
March 30, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29576896/stem-cell-treatment-in-retinal-diseases-recent-developments
#11
REVIEW
Ayşe Öner
Stem cells are undifferentiated cells which have the ability to self-renew and differentiate into mature cells. They are highly proliferative, implying that an unlimited number of mature cells can be generated from a given stem cell source. On this basis, stem cell replacement therapy has been evaluated in recent years as an alternative for various pathologies. Degenerative retinal diseases cause progressive visual decline which originates from continuing loss of photoreceptor cells and outer nuclear layers...
February 2018: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29542350/pharmacotherapy-of-retinal-disease-with-visual-cycle-modulators
#12
Rehan M Hussain, Ninel Z Gregori, Thomas A Ciulla, Byron L Lam
Pharmacotherapy with visual cycle modulators (VCMs) is under investigation for retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Stargardt macular dystrophy (SMD) and nonexudative age-related macular degeneration (AMD), all blinding diseases that lack effective treatment options. Areas covered: The authors review investigational VCMs, including oral retinoids, 9-cis-retinyl-acetate (zuretinol) and 9-cis-β-carotene, which restore 11-cis-retinal levels in RP and LCA caused by LRAT and RPE65 gene mutations, and may improve visual acuity and visual fields...
March 15, 2018: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29526278/identification-and-rescue-of-splice-defects-caused-by-two-neighboring-deep-intronic-abca4-mutations-underlying-stargardt-disease
#13
Silvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M Bax, Carel B Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W J Collin, Frans P M Cremers
Sequence analysis of the coding regions and splice site sequences in inherited retinal diseases is not able to uncover ∼40% of the causal variants. Whole-genome sequencing can identify most of the non-coding variants, but their interpretation is still very challenging, in particular when the relevant gene is expressed in a tissue-specific manner. Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown. By generating photoreceptor precursor cells (PPCs) from fibroblasts obtained from individuals with STGD1, we demonstrated that two neighboring deep-intronic ABCA4 variants (c...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29473871/impaired-cargo-clearance-in-the-retinal-pigment-epithelium-rpe-underlies-irreversible-blinding-diseases
#14
REVIEW
Eloise Keeling, Andrew J Lotery, David A Tumbarello, J Arjuna Ratnayaka
Chronic degeneration of the Retinal Pigment Epithelium (RPE) is a precursor to pathological changes in the outer retina. The RPE monolayer, which lies beneath the neuroretina, daily internalises and digests large volumes of spent photoreceptor outer segments. Impaired cargo handling and processing in the endocytic/phagosome and autophagy pathways lead to the accumulation of lipofuscin and pyridinium bis-retinoid A2E aggregates and chemically modified compounds such as malondialdehyde and 4-hydroxynonenal within RPE...
February 23, 2018: Cells
https://www.readbyqxmd.com/read/29461686/atp-binding-cassette-subfamily-a-member-4-intronic-variants-c-4773-3a-g-and-c-5461-10t-c-cause-stargardt-disease-due-to-defective-splicing
#15
Frida Jonsson, Ida Maria Westin, Lennart Österman, Ola Sandgren, Marie Burstedt, Monica Holmberg, Irina Golovleva
PURPOSE: Inherited retinal dystrophies (IRDs) represent a group of progressive conditions affecting the retina. There is a great genetic heterogeneity causing IRDs, and to date, more than 260 genes are associated with IRDs. Stargardt disease, type 1 (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central visual impairment, frequent appearance of yellowish flecks and mutations in the ATP-binding cassette subfamily A, member 4 (ABCA4) gene. A large number of intronic sequence variants in ABCA4 have been considered pathogenic although their functional effect was seldom demonstrated...
February 20, 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29422768/retinal-phenotypic-characterization-of-patients-with-abca4-retinopathydue-to-the-homozygous-p-ala1773val-mutation
#16
Salvador López-Rubio, Oscar F Chacon-Camacho, Rodrigo Matsui, Dalia Guadarrama-Vallejo, Mirena C Astiazarán, Juan C Zenteno
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4 . Methods: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field electroretinography (ERG). In addition, imaging studies, such as optical coherence tomography (OCT), short-wave autofluorescence imaging, and quantitative analyses of hypofluorescence, were performed in each patient...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29417145/stargardt-phenotype-associated-with-two-elovl4-promoter-variants-and-elovl4-downregulation-new-possible-perspective-to-etiopathogenesis
#17
Luigi Donato, Concetta Scimone, Carmela Rinaldi, Pasquale Aragona, Silvana Briuglia, Angela D'Ascola, Rosalia D'Angelo, Antonina Sidoti
Purpose: Stargardt disease (STGD) is the most common form of inherited juvenile macular degeneration. It is inherited as autosomal recessive trait (STGD1), although STGD3 and STGD4 are inherited as autosomal dominant inheritance pattern. STGD3 is caused by mutations in the elongation of very long-chain fatty acids-like 4 (ELOVL4) gene encoding for a very long-chain fatty acid elongase. Mutations lead to a truncated Elovl4, lacking of a dilysine motif necessary for retention of transmembrane proteins in the endoplasmic reticulum...
February 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29416601/genetic-identification-and-molecular-modeling-characterization-reveal-a-novel-prom1-mutation-in-stargardt4-like-macular-dystrophy
#18
Saber Imani, Jingliang Cheng, Marzieh Dehghan Shasaltaneh, Chunli Wei, Lisha Yang, Shangyi Fu, Hui Zou, Md Asaduzzaman Khan, Xianqin Zhang, Hanchun Chen, Dianzheng Zhang, Chengxia Duan, Hongbin Lv, Yumei Li, Rui Chen, Junjiang Fu
Stargardt disease-4 (STGD4) is an autosomal dominant complex, genetically heterogeneous macular degeneration/dystrophy (MD) disorder. In this paper, we used targeted next generation sequencing and multiple molecular dynamics analyses to identify and characterize a disease-causing genetic variant in four generations of a Chinese family with STGD4-like MD. We found a novel heterozygous missense mutation, c.734T>C (p.L245P) in the PROM1 gene. Structurally, this mutation most likely impairs PROM1 protein stability, flexibility, and amino acid interaction network after changing the amino acid residue Leucine into Proline in the basic helix-loop-helix leucine zipper domain...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29392585/timing-of-cognitive-decline-in-cln3-disease
#19
Willemijn F E Kuper, Claudia van Alfen, Roeliene H Rigterink, Sabine A Fuchs, Maria M van Genderen, Peter M van Hasselt
BACKGROUND: CLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease. METHODS: Early neurocognitive functioning in CLN3 disease was analyzed using age at onset of visual and cognitive decline and IQ scores from literature-derived patient descriptions, supplemented with IQ scores and school history from a retrospective referral center cohort...
March 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29386879/full-field-erg-as-a-predictor-of-the-natural-course-of-abca4-associated-retinal-degenerations
#20
Marion Schroeder, Ulrika Kjellström
Purpose: To assess retinal function in combination with the retinal structure in ABCA4 -associated retinal degenerations. Moreover, to evaluate the possibility of predicting the natural course of these disorders. Methods: 34 patients with Stargardt disease or cone rod dystrophy carrying confirmed mutations in ABCA4 were selected from our retinitis pigmentosa (RP) register. Sequence analysis of the entire coding region of the ABCA4 gene was performed. The patients were subdivided into three groups based on their most recent visual fields...
2018: Molecular Vision
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