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Fundus autofluorescence

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https://www.readbyqxmd.com/read/28546991/structural-modeling-of-a-novel-slc38a8-mutation-that-causes-foveal-hypoplasia
#1
Marcus A Toral, Gabriel Velez, Katherine Boudreault, Kellie A Schaefer, Yu Xu, Norman Saffra, Alexander G Bassuk, Stephen H Tsang, Vinit B Mahajan
BACKGROUND: Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium-coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT-angiography to improve the precision of FH diagnosis...
May 2017: Molecular Genetics & Genomic Medicine
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
#2
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/28541266/retinochoroidal-anastomosis-associated-with-enhanced-s-cone-syndrome
#3
Jennyfer Zerbib, Rocio Blanco Garavito, Sylvie Gerber, Hassiba Oubraham, Anne Sikorav, Isabelle Audo, Josseline Kaplan, Jean-Michel Rozet, Eric H Souied
PURPOSE: To describe the phenotype and genotype of a 10-year-old boy affected with enhanced S-cone syndrome associated with neovascularization. METHODS: Fundus autofluorescence, fluorescein angiography, indocyanine green angiography, spectral domain optical coherence tomography, full-field electroretinogram and NR2E3 molecular testing were performed. RESULTS: Best-corrected visual acuity was measured as 20/32, right eye and 20/20, left eye...
May 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28529701/recent-advances-in-the-management-of-dry-age-related-macular-degeneration-a-review
#4
REVIEW
Francesco Bandello, Riccardo Sacconi, Lea Querques, Eleonora Corbelli, Maria Vittoria Cicinelli, Giuseppe Querques
Age-related macular degeneration (AMD), the most important cause of vision loss in elderly people, is a degenerative disorder of the central retina with a multifactorial etiopathology. AMD is classified in dry AMD (d-AMD) or neovascular AMD depending on the presence of choroidal neovascularization. Currently, no therapy is approved for geographic atrophy, the late form of d-AMD, because no treatment can restore the damage of retinal pigment epithelium (RPE) or photoreceptors. For this reason, all treatment approaches in d-AMD are only likely to prevent and slow down the progression of existing atrophy...
2017: F1000Research
https://www.readbyqxmd.com/read/28520626/multimodal-imaging-of-acute-exudative-polymorphous-vitelliform-maculopathy-with-optical-coherence-tomography-angiography-and-adaptive-optics-scanning-laser-ophthalmoscopy
#5
Dimitra Skondra, Peter L Nesper, Amani A Fawzi
PURPOSE: To report a case of acute exudative polymorphous vitelliform maculopathy including the findings of optical coherence tomography angiography and adaptive optics scanning laser ophthalmoscopy. METHODS: Findings on clinical examination, color fundus photography, spectral-domain optical coherence tomography, infrared reflectance, autofluorescence, optical coherence tomography angiography, and adaptive optics scanning laser ophthalmoscopy. RESULTS: A 54-year-old white man with no significant medical history and history of smoking presented with bilateral multiple serous and vitelliform detachments consistent with acute exudative polymorphous vitelliform maculopathy...
May 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28513254/peripapillary-sparing-in-rdh12-associated-leber-congenital-amaurosis
#6
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/28506260/atypical-retinal-pigment-epithelial-defects-with-retained-photoreceptor-layers-a-so-far-disregarded-finding-in-age-related-macular-degeneration
#7
Helena Giannakaki-Zimmermann, Giuseppe Querques, Inger Christine Munch, Daraius Shroff, David Sarraf, Xuejing Chen, Eduardo Cunha-Souza, Sarah Mrejen, Vittorio Capuano, Murilo W Rodrigues, Charu Gupta, Andreas Ebneter, Martin S Zinkernagel, Marion R Munk
BACKGROUND: To report patients with age-related macular degeneration and atypical central retinal pigment epithelium (RPE) defects not attributable to geographic atrophy (GA) or RPE-tears with overlying preserved photoreceptor layers. METHODS: Multimodal imaging case-series evaluating the course of atypical RPE- defects in patients with AMD using Color fundus images, Optical coherence tomography (OCT), OCT-Angiography, fundus autofluorescence (FAF) and fluorescein-angiography (FA)...
May 15, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28499705/measurement-and-reproducibility-of-preserved-ellipsoid-zone-area-and-preserved-rpe-area-in-a-cohort-of-eyes-with-choroideremia
#8
Amir H Hariri, Swetha B Velaga, Aniz Girach, Michael S Ip, Phuc V Le, Byron L Lam, M Dominik Fischer, Eeva-Marja Sankila, Mark Pennesi, Frank G Holz, Robert E MacLaren, David G Birch, Carel B Hoyng, Ian M MacDonald, Graeme C Black, Stephen H Tsang, Neil M Bressler, Michael Larsen, Michael B Gorin, Andrew R Webster, SriniVas R Sadda
PURPOSE: To identify valid and reproducible methods for quantifying anatomical outcome measures for eyes with choroideremia (CHM) in clinical trials. DESIGN: Reliability analysis study. METHODS: In this multicenter study, patients with confirmed genetic diagnosis of CHM were enrolled. All cases underwent spectral domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) imaging. Two graders independently delineated boundaries of preserved autofluorescence (PAF) and preserved ellipsoid zone (EZ) on FAF and OCT images respectively...
May 9, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28494563/-the-clinical-manifestations-and-imaging-characteristics-of-acute-syphilitic-posterior-placoid-chorioretinitis
#9
F Hu, X N Wang, X S Cao, X Y Peng
Objective: To investigate the clinical manifestations and imaging characteristics of acute syphilitic posterior placoid chorioretinitis (ASPPC). Methods: Retrospective study of 10 patients diagnosed ASPPC in the Department of Ophthalmology, Beijing Tongren Hospital from 2011 to 2016, including 6 males (10 eyes involved) and 4 females (8 eyes involved) with an age of (43.4±11.6) years (range, 26-60 years). Their clinical manifestations and imaging characteristics were summarized. Results: All 10 ASPPC patients complained about the reduction of visual acuity, and the majority of them had both eyes involved...
May 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28489706/optical-coherence-tomography-angiography-of-congenital-simple-hamartoma-of-the-retinal-pigment-epithelium
#10
Parnian Arjmand, Elizabeth B Elimimian, Emil A T Say, Carol L Shields
PURPOSE: To describe the optical coherence tomography angiography features of congenital simple hamartoma of the retinal pigment epithelium. METHODS: Case report. RESULTS: A 14-year-old boy was referred for an asymptomatic fundus tumor in the left eye. Visual acuity was 20/20 in the right eye and 20/40 in the left eye. The right fundus was normal. The left fundus disclosed a gray-white nodular retinal mass of 2-mm diameter in the juxtafoveal region, protruding into the vitreous cavity and causing radial retinal folds...
May 9, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28487376/visual-and-ocular-motor-function-in-the-atypical-form-of-neurodegeneration-with-brain-iron-accumulation-type-i
#11
Joana Jesus-Ribeiro, Cláudia Farinha, Margarida Amorim, Anabela Matos, Aldina Reis, João Lemos, Miguel Castelo-Branco, Cristina Januário
BACKGROUND/AIMS: Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical form of NBIA type I. METHODS: Cross-sectional study, including patients with genetically confirmed NBIA type I and classified as atypical variant, who underwent ophthalmological examination with best corrected visual acuity (BCVA), optical coherence tomography (OCT), fundus autofluorescence (FAF), electroretinography (ERG), visual evoked potentials (VEP) and video-oculography...
May 9, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28475704/combined-fundus-autofluorescence-and-near-infrared-reflectance-as-prognostic-biomarkers-for-visual-acuity-in-foveal-sparing-geographic-atrophy
#12
Moritz Lindner, Jennifer Nadal, Matthias M Mauschitz, Anna Lüning, Joanna Czauderna, Maximilian Pfau, Steffen Schmitz-Valckenberg, Frank G Holz, Matthias Schmid, Monika Fleckenstein
Purpose: To identify predictors of best corrected visual acuity (BCVA) in eyes with foveal-sparing geographic atrophy (GA) secondary to age-related macular degeneration (AMD). Methods: Best corrected visual acuity (Early Treatment Diabetic Retinopathy Study charts); serial fundus autofluorescence; and near-infrared reflectance images of patients participating in the FAM (NCT00393692) and DSGA (NCT02051998) studies were analyzed. The sizes of GA and spared fovea, and the minimal linear dimension of intact retinal pigment epithelium ("bridge") between the residual foveal island and the surrounding retina were quantified and associations with BCVA were assessed by local regression curves and mixed effects models...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28470647/torpedo-maculopathy-associated-with-choroidal-neovascularization
#13
D Jurjevic, C Böni, D Barthelmes, K Fasler, M Becker, S Michels, J Stemmle, C Herbort, S A Zweifel
Background Torpedo maculopathy is a very rare, congenital, usually unilateral hypopigmented lesion in the temporal macula. Material and Methods This retrospective case series describes three patients with torpedo maculopathy. Results The first two cases demonstrate typical clinical and imaging findings of torpedo maculopathy in asymptomatic patients. The third case relates to a symptomatic young patient with a torpedo lesion, a smaller satellite lesion, and evidence of choroidal neovascularization confirmed by fluorescence angiography...
April 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28451987/erg-and-other-discriminators-between-advanced-hydroxychloroquine-retinopathy-and-retinitis-pigmentosa
#14
Archana A Nair, Michael F Marmor
PURPOSE: To study whether the ERG and other clinical findings help to distinguish between advanced hydroxychloroquine (HCQ) retinopathy and pericentral or diffuse retinitis pigmentosa (RP) with similar fundus appearance. METHODS: We conducted a retrospective analysis of patients with advanced HCQ retinopathy (n = 11), pericentral RP (n = 8) and diffuse RP (n = 8). Pericentral RP was defined as having limited fundus damage and relatively normal flicker ERG time-to-peak...
April 27, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28451757/analysis-of-autofluorescence-pattern-in-birdshot-chorioretinopathy
#15
R Semécas, M Mauget-Faÿsse, F Aptel, A Mailhac, L Salmon, V Vasseur, L Bouillet, C Chiquet
PURPOSE: To characterize and correlate the different patterns of fundus autofluorescence (FAF) in patients with birdshot chorioretinopathy (BSCR), with functional and anatomical parameters. METHODS: Twenty-one BSCR patients were prospectively studied in 2013 and 2014. Each patient underwent visual acuity (VA) and visual field (SITA standard 30.2) testing as well as fluorescein and indocyanine green angiography, spectral-domain optical coherence tomography (SD-OCT) B scan, enhanced depth imaging (EDI), and fundus autofluorescence (FAF) imaging...
April 27, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28442884/cone-dystrophy-or-macular-dystrophy-associated-with-novel-autosomal-dominant-guca1a-mutations
#16
Gaël Manes, Sonia Mamouni, Emilie Hérald, Anne-Claire Richard, Audrey Sénéchal, Karim Aouad, Béatrice Bocquet, Isabelle Meunier, Christian P Hamel
PURPOSE: Sixteen different mutations in the guanylate cyclase activator 1A gene (GUCA1A), have been previously identified to cause autosomal dominant cone dystrophy (adCOD), cone-rod dystrophy (adCORD), macular dystrophy (adMD), and in an isolated patient, retinitis pigmentosa (RP). The purpose of this study is to report on two novel mutations and the patients' clinical features. METHODS: Clinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and full-field and multifocal electroretinogram (ERG) recordings...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28435332/lacquer-cracks-observed-in-peripheral-fundus-of-eyes-with-high-myopia
#17
Mitsuki Suga, Kosei Shinohara, Kyoko Ohno-Matsui
We report a case with lacquer cracks observed in the peripheral fundus. A 37-year-old patient with bilateral high myopia who visited our clinic was examined by fluorescein angiography (FA) and fundus autofluorescence (FAF) to determine whether there were myopic fundus lesions. FA showed many arch-shaped, hyperfluorescent linear lesions running circumferentially in the peripheral fundus. FAF showed hypo-autofluorescence at the corresponding sites. These characteristics were very similar to the lacquer cracks present in the posterior fundus in highly myopic eyes...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28426871/macular-pigment-density-and-quantitative-fundus-autofluorescence-in-young-healthy-subjects
#18
Chiara M Eandi, Marco Nassisi, Carlo Lavia, Camilla Alovisi, Ugo de Sanctis
Purpose: To measure macular pigment (MP) and find possible correlation between heterochromatic flicker photometry (HFP) and quantitative autofluorescence (qAF) in young healthy subjects. Methods: We enrolled 80 eyes of 40 young healthy subjects. Macular pigment optical density (MPOD) was automatically calculated with a macular pigment screener (MPS; MPODHFP). We calculated qAF comparing gray levels (GL) of qAF images with GL of internal reference of a confocal scanning laser ophthalmoscopy...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28421434/estimation-of-fluorescence-lifetime-of-lipofuscin-fluorophores-contained-in-lipofuscin-granules-of-retinal-pigment-epithelium-of-human-cadaver-eyes-without-signs-of-pathology
#19
M A Yakovleva, T B Feldman, P M Arbukhanova, S A Borzenok, V A Kuzmin, M A Ostrovsky
The fluorescence lifetimes of lipofuscin fluorophores contained in chloroform extracts from retinal pigment epithelium (RPE) of human cadaver eyes without signs of pathology were evaluated by single photon counting. The comparison of fluorescence lifetimes of N-retinylidene-N-retinylethanolamine (A2E) and its photooxidation and photodegradation products has been carried out. It was shown that the contribution of A2E to the total fluorescence of chloroform extract from lipofuscin granules is not major. The results are important for the improvement of noninvasive diagnostic method of degenerative diseases of the retina and RPE-fundus autofluorescence (FAF)...
January 2017: Doklady. Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28419401/unilateral-pigmented-paravenous-retinochoroidal-atrophy-associated-with-presumed-ocular-tuberculosis
#20
Guillermo Fernandez-Sanz, Ester Carreño, Sonia Mall, Magella M Neveu, Graham E Holder, Dhanes Thomas
This report describes a case of unilateral pigmented paravenous retinochoroidal atrophy (PPRCA) in a patient with low-grade unilateral intermediate uveitis. A 31-year-old woman, previously diagnosed with intermediate uveitis in the right eye (OD) presented to the clinic. Best-corrected visual acuity was 20/20 OD. Fundus examination, fluorescein angiography, autofluorescence, and optical coherence tomography OD were in keeping with a phenotypic diagnosis of PPRCA. Electrophysiology showed severe photoreceptor dysfunction of both the rod and the cone systems OD...
April 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
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