keyword
MENU ▼
Read by QxMD icon Read
search

Stargardt disease

keyword
https://www.readbyqxmd.com/read/29057663/gene-therapy-for-inherited-retinal-and-optic-nerve-degenerations
#1
Nicholas A Moore, Nuria Morral, Thomas A Ciulla, Peter Bracha
The eye is a target for investigational gene therapy due to the monogenic nature of many inherited retinal and optic nerve degenerations (IRD), its accessibility, tight blood-ocular barrier, the ability to non-invasively monitor for functional and anatomic outcomes, as well as its relative immune privileged state.Vectors currently used in IRD clinical trials include adeno-associated virus (AAV), small single-stranded DNA viruses, and lentivirus, RNA viruses of the retrovirus family. Both can transduce non-dividing cells, but AAV are non-integrating, while lentivirus integrate into the host cell genome, and have a larger transgene capacity...
October 23, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29049723/a-comparison-of-en-face-optical-coherence-tomography-and-fundus-autofluorescence-in-stargardt-disease
#2
Vivienne C Greenstein, Jason Nunez, Winston Lee, Kaspar Schuerch, Brad Fortune, Stephen H Tsang, Rando Allikmets, Janet R Sparrow, Donald C Hood
Purpose: To compare morphologic changes on en face images derived from wide-field swept-source optical coherence tomography (ssOCT) to hypo- and hyperautofluorescent (hypoAF, hyperAF) areas on short-wavelength autofluorescence (SW-AF), and near-infrared (NIR)-AF in recessive Stargardt disease (STGD1). Methods: Wide-field ssOCT cube scans were obtained from 16 patients (16 eyes). Averaged B-scans and SW-AF images were obtained using Spectralis HRA+OCT. NIR-AF images were obtained from 6 eyes...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29049437/progression-of-stargardt-disease-as-determined-by-fundus-autofluorescence-in-the-retrospective-progression-of-stargardt-disease-study-progstar-report-no-9
#3
Rupert W Strauss, Beatriz Muñoz, Alexander Ho, Anamika Jha, Michel Michaelides, Artur V Cideciyan, Isabelle Audo, David G Birch, Amir H Hariri, Muneeswar G Nittala, SriniVas Sadda, Sheila West, Hendrik P N Scholl
Importance: Sensitive outcome measures for disease progression are needed for treatment trials of Stargardt disease. Objective: To describe the yearly progression rate of atrophic lesions in the retrospective Progression of Stargardt Disease study. Design, Setting, and Participants: A multicenter retrospective cohort study was conducted at tertiary referral centers in the United States and Europe. A total of 251 patients aged 6 years or older at baseline, harboring disease-causing variants in ABCA4 (OMIM 601691), enrolled in the study from 9 centers between August 2, 2013, and December 12, 2014; of these patients, 215 had at least 2 gradable fundus autofluorescence images with atrophic lesion(s) present in at least 1 eye...
October 12, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29038010/peripheral-visual-fields-in-abca4-stargardt-disease-and-correlation-with-disease-extent-on-ultra-widefield-fundus-autofluorescence
#4
Maria Fernanda Abalem, Benjamin Otte, Chris Andrew, Katherine A Joltikov, Kari Branham, Abigail T Fahim, Dana Schlegel, Cynthia X Qian, John R Heckenlively, Thiran Jayasundera
PURPOSE: To evaluate the disease extent on ultra-widefield fundus autofluorescence (UWF-FAF) in patients with ABCA4- Stargardt disease (STGD) and correlate this data with functional outcome measures. DESIGN: Retrospective cross sectional study SETTING: Kellogg Eye Center, University of Michigan STUDY POPULATION: Sixty-five patients with clinical diagnosis and proven pathogenic variants in the ABCA4 gene. OBSERVATIONAL PROCEDURES: The UWF-FAF images were obtained using Optos 200- degrees and classified into three types...
October 13, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29028687/hyperreflective-deposition-in-the-background-of-advanced-stargardt-disease
#5
Lyam Ciccone, Winston Lee, Jana Zernant, Koji Tanaka, Kaspar Schuerch, Stephen H Tsang, Rando Allikmets
PURPOSE: To describe an unusual manifestation of hyperreflective deposits in the subretinal space in a group of patients with clinically and genetically confirmed Stargardt disease. METHODS: Retrospective review of color fundus, autofluorescence, infrared reflectance, red-free images, and spectral domain optical coherence tomography in 296 clinically diagnosed and genetically confirmed (2 expected disease-causing mutations in ABCA4) patients with Stargardt disease...
October 12, 2017: Retina
https://www.readbyqxmd.com/read/29016459/choroidal-structural-changes-and-vascularity-index-in-stargardt-disease-on-swept-source-optical-coherence-tomography
#6
Dhanashree Ratra, Roy Tan, Durgasri Jaishankar, Neha Khandelwal, Arushi Gupta, Jay Chhablani, Rupesh Agrawal
PURPOSE: To evaluate structural changes in the choroid of patients with Stargardt disease using swept source optical coherence tomography scans. METHODS: A retrospective comparison cohort study was conducted on 39 patients with Stargardt disease, and on 25 age and gender matched-healthy controls. Subfoveal choroidal thickness (SFCT) was computed from the swept source optical coherence tomography machine, and the scans were binarized into luminal area and stromal areas, which were then used to derive choroidal vascularity index (CVI)...
October 6, 2017: Retina
https://www.readbyqxmd.com/read/28980559/-molecular-genetic-diagnosis-of-stargardt-disease
#7
N L Sheremet, N V Zhorzholadze, I A Ronzina, I G Grushke, S A Kurbatov, A L Chukhrova, A N Loginova, P O Shcherbakova, A S Tanas, A V Polyakov, V V Strel'nikov
AIM: To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes. MATERIAL AND METHODS: MLPA analysis for 5 ABCA4 mutations, namely p.G863A, p.L541P, p.A1038V, p.G1961E, and p.P1380L, was done in 54 patients with SD. In 25 patients, massive parallel sequencing of coding regions (exons) and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes was also performed...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28973313/metrics-and-acquisition-modes-for-fixation-stability-as-a-visual-function-biomarker
#8
MULTICENTER STUDY
Etienne M Schönbach, Mohamed A Ibrahim, Xiangrong Kong, Rupert W Strauss, Beatriz Muñoz, David G Birch, Janet S Sunness, Sheila K West, Hendrik P N Scholl
Purpose: To compare different metrics and acquisition modes of fixation stability as a new visual function biomarker in a large cohort of patients with ABCA4-related Stargardt disease from the multicenter prospective ProgStar study. Methods: Fixation was tested during a separate fixation exam and also dynamically during a sensitivity exam, using fundus-tracking microperimetry (Nidek MP-1). Fixation data were analyzed using the bivariate contour ellipse area (BCEA), the 2/4 degree method, and the Fujii classification...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28971293/functional-changes-at-the-preferred-retinal-locus-in-subjects-with-bilateral-central-vision-loss
#9
Arun Kumar Krishnan, Harold E Bedell
PURPOSE: Subjects with bilateral central vision loss (CVL) use a retinal region called the preferred retinal locus (PRL) for performing various visual tasks. We probed the fixation PRL in individuals with bilateral macular disease, including age-related macular degeneration (AMD) and Stargardt disease (STGD), for localized sensitivity deficits. METHODS: Three letter words at the critical print size were presented in the NIDEK MP-1 microperimeter to determine the fixation PRL and its radial retinal eccentricity from the residual fovea in 29 subjects with bilateral CVL...
October 2, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28947085/the-rapid-onset-chorioretinopathy-phenotype-of-abca4-disease
#10
Koji Tanaka, Winston Lee, Jana Zernant, Kaspar Schuerch, Lyam Ciccone, Stephen H Tsang, Janet R Sparrow, Rando Allikmets
PURPOSE: To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. DESIGN: Comparative cohort study. PARTICIPANTS: Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease. MAIN OUTCOME MEASURES: Phenotypic characteristics were assessed on color fundus photographs, short-wavelength autofluorescence (488-nm), and near-infrared autofluorescence (NIR-AF, 787-nm) images...
September 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28941524/juvenile-macular-degenerations
#11
Pablo Altschwager, Lucia Ambrosio, Emily A Swanson, Anne Moskowitz, Anne B Fulton
In this article, we review the following 3 common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography imaging, and genetic testing...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28920007/towards-treatment-of-stargardt-disease-workshop-organized-and-sponsored-by-the-foundation-fighting-blindness
#12
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
#13
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...
October 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28912967/correlation-of-macular-focal-electroretinogram-with-ellipsoid-zone-extension-in-stargardt-disease
#14
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/28890726/next-generation-sequencing-aided-rapid-molecular-diagnosis-of-occult-macular-dystrophy-in-a-chinese-family
#15
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
#16
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/28800018/the-expanding-clinical-spectrum-of-choroidal-excavation-in-macular-dystrophies
#17
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
#18
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
#19
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
#20
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
keyword
keyword
61410
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"