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fundus flavimaculatus

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https://www.readbyqxmd.com/read/27685498/a-case-of-cone-dystrophy-associated-with-choroidal-neovascularization
#1
Gokhan Gulkilik, Sevil Karaman Erdur, Mustafa Eliacik, Mahmut Odabasi, Mustafa Ozsutcu, Goktug Demirci, Mehmet Selim Kocabora
PURPOSE: To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD). METHODS: Case report. RESULTS: A 20-year-old woman presented with diminished vision in her right eye. Fundus examination showed perifoveal retinal pigment epithelial changes and retinal hemorrhage consistent with subretinal CNV in the right eye, and mild retinal pigment epithelial changes with a dull foveal reflex in the left eye. Optical coherence tomography analysis and fundus fluorescein angiography also confirmed the subfoveal CNV in the right eye...
September 28, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27380982/multimodal-imaging-in-multifocal-pattern-dystrophy-simulating-fundus-flavimaculatus
#2
Rupak Roy, Saurabh Kumar, Dhileesh P Chandrasekharan, Avirupa Ghose, Preeti Sharma
No abstract text is available yet for this article.
May 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27365499/the-k153del-prph2-mutation-differentially-impacts-photoreceptor-structure-and-function
#3
Dibyendu Chakraborty, Shannon M Conley, Rahel Zulliger, Muna I Naash
Peripherin 2 (PRPH2) is a photoreceptor tetraspanin, and deletion of codon 153 (K153Δ) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in the same family. To study this variability, we generated a K153Δ-Prph2 knockin mouse.K153Δ-Prph2 cannot form the complexes required for outer segment formation, and in cones cannot interact with its binding partner rod outer segment membrane protein 1. K153Δ causes dominant defects in rod and cone function; however, rod but not cone ultrastructure is improved by the presence of K153Δ-Prph2...
June 29, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/25945536/macular-dystrophy-associated-with-kjellin-s-syndrome-a-case-report
#4
Vinícius Monteiro de Castro, André Meirelles, Rafael Saran Arcieri, Katharina Messias, André Messias
Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin's syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin's syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging)...
March 2015: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/25821619/intravitreal-aflibercept-injection-and-photodynamic-treatment-of-a-patient-with-unilateral-subretinal-neovascular-membrane-associated-with-fundus-flavimaculatus
#5
Ali Osman Saatci, Ziya Ayhan, Bora Yüksel, Göktuğ Seymenoğlu, Seenu M Hariprasad
We report the good outcome of combined intravitreal aflibercept injection and photodynamic treatment in a case with fundus flavimaculatus (FFM) and unilateral subretinal neovascular membrane (SRNM). A 57-year-old man with FFM and unilateral SRNM who was treated with two consecutive ranibizumab injections with no improvement at another institution was referred to us. He was treated successfully with three aflibercept injections three months apart and a single photodynamic treatment performed a week after the initial aflibercept injection...
2015: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/25390512/subretinal-deposits-paramacular-atrophy-and-pigmentary-retinopathy-in-mitochondrial-encephalopathy-lactic-acidosis-and-stroke-like-episodes
#6
Adrian T Fung, Michael Engelbert, Jeffrey G Odel, Lawrence A Yannuzzi
PURPOSE: To report a case of subretinal deposits, paramacular atrophy, and pigmentary retinopathy associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. METHODS: Retrospective review of medical records. RESULTS: A 45-year-old white woman presented with progressive deterioration of vision and dark adaptation over several years. She had a background of an undiagnosed neurodegenerative disorder, including sensorineural hearing loss, cognitive disturbance, and peripheral neuropathy...
2013: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/25390102/ranibizumab-for-choroidal-neovascularization-in-fundus-flavimaculatus
#7
Amparo Navea Tejerina, Maria García-Pous, Elena Palacios Pozos, M Carmen Desco Esteban, Jorge Mataix Boronat
PURPOSE: To report the features of a case with late-onset fundus flavimaculatus (FFM) complicated by choroidal neovascularization (CNV) and treated with ranibizumab. METHODS: Retrospective interventional case report. PATIENT: A 51-year-old woman presented with right eye decreased vision. Fundus flavimaculatus with CNV was diagnosed by electroretinography and fluorescein angiography. RESULTS: Two intravitreal injections of ranibizumab were needed for the treatment...
2008: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/24970593/multifocal-electroretinograms-in-stargardt-s-disease-fundus-flavimaculatus
#8
Kazuki Kuniyoshi, Hiroko Terasaki, Mikki Arai, Tatsuo Hirose
PURPOSE: To determine whether the characteristics of multifocal electroretinograms (mfERGs) were correlated with the ophthalmic appearance of the fundus in patients with Stargardt's disease/fundus flavimaculatus (SFF). METHODS: Full-field ERGs, mfERGs, and general ophthalmic examinations were performed on 49 eyes with SFF. RESULTS: The SFF patients were divided into four subtypes according to the classification of Noble and Carr [Arch Ophthalmol 1979;97:1281-1285]...
2014: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/24864504/-stargardt-s-disease-and-abiotrophy-of-franceschetti-fundus-flavimaculatus-pathogenetic-clinical-and-molecular-genetic-characteristics
#9
REVIEW
M T Bondarenko, N V Zhorzholadze, N L Sheremet, I A Ronzina, N S Galoian, A N Loginova, A L Chukhrova, A V Poliakov
The article presents a review of literature on Stargardt's disease and abiotrophy of Franceschetti. Etiopathogenetic, clinical and molecular genetic characteristics are covered. Clinical and genetic classifications of the diseases are provided.
March 2014: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/24653822/clinical-polymorphism-of-stargardt-disease-in-a-large-consanguineous-tunisian-family-implications-for-nosology
#10
Leila El Matri, Farah Ouechtati, Ahmed Chebil, Leila Largueche, Sonia Abdelhak
PURPOSE: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. METHODS: Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG) and color vision testing was performed for all subjects...
October 2013: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/24484270/all-that-glitters-are-not-flecks-inflammatory-choroidal-neovascularization-in-fundus-flavimaculatus
#11
LETTER
Rupak Roy, Amitabh Kumar, Shrutakirti Ghosh, Aneesha Lobo, Pracheer Agarwal
No abstract text is available yet for this article.
April 2015: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/24378427/multimodal-imaging-in-deferoxamine-retinopathy
#12
Francesco Viola, Giulio Barteselli, Laura DellʼArti, Diego Vezzola, Chiara Mapelli, Edoardo Villani, Roberto Ratiglia
PURPOSE: To describe macular lesions in patients with deferoxamine (DFO) retinopathy, and to follow their clinical course using multimodal imaging. METHODS: The authors retrospectively reviewed charts and multimodal imaging of 20 patients with β-thalassemia diagnosed with DFO retinopathy (40 eyes) after a minimum of 10 years of DFO treatment. Imaging included fundus photography, near-infrared reflectance and fundus autofluorescence imaging on confocal laser scanning ophthalmoscope, and spectral domain optical coherence tomography...
July 2014: Retina
https://www.readbyqxmd.com/read/24342785/-clinical-characterization-of-the-stargardt-disease-and-molecular-exploration-of-the-c-2041c-t-mutation-abca4-gene-in-tunisian-patients
#13
Ibtissem Chouchene, Leila Largueche, Farah Ouechtati, Kawthar Derouiche, Ahmed Turki, Sonia Abdelhak, Leila El Matri
In order to charaterize the Stargardt disease, the molecular exploration of the c.2041C>T mutation (ABCA4 gene) and genotype phenotype correlation in Tunisian patients, seven unrelated propositi underwent a complete ophthalmological examination. The search for the mutation was performed by a direct sequencing after a specific amplification of exon 14 of the ABCA4 gene. Baseline, the average age of propositi was 20.7 ± 15 years and the sex-ratio was 1.3. The age of the visual impairment perception was 8...
November 2013: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/24319520/three-dimensional-spectral-domain-optical-coherence-tomography-in-stargardt-disease-and-fundus-flavimaculatus
#14
Sandeep Saxena, Nibha Mishra, Carsten H Meyer
No abstract text is available yet for this article.
2012: Journal of Ocular Biology, Diseases, and Informatics
https://www.readbyqxmd.com/read/24138045/stargardt-fundus-flavimaculatus-recent-advancements-and-treatment
#15
REVIEW
Sara Haji Abdollahi, Tatsuo Hirose
Stargardt disease is the most common form of autosomal recessive macular dystrophy. Mutation in the ABCA4 gene (ABCR protein) is responsible for disease manifestation in more than 95% of Stargardt patients. ABCA4 codes for a member of the ATP binding cassette transmembrane protein involved in the transport of all-trans retinal. Dysfunction in this protein causes accumulation of lipofuscin, which is toxic to the RPE and photoreceptors. Presenting symptoms, fundus appearance, and progression of the disease are widely variable in this disease...
September 2013: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/24075421/reticular-pattern-dystrophy-of-the-retina-a-spectral-domain-optical-coherence-tomography-analysis
#16
Jennyfer Zerbib, Giuseppe Querques, Nathalie Massamba, Nathalie Puche, Julien Tilleul, Franck Lalloum, Mayer Srour, Gabriel Coscas, Eric H Souied
PURPOSE: To analyze the outer retinal and retinal pigment epithelium (RPE) features of reticular pattern dystrophy of the retina using spectral-domain optical coherence tomography (SDOCT). DESIGN: Retrospective observational case series. METHODS: Consecutive patients with reticular pattern dystrophy of the retina underwent a complete ophthalmologic examination, including assessment of best-corrected visual acuity (BCVA), fundus biomicroscopy, fluorescein angiography (FA), and SDOCT...
December 2013: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/23341817/subretinal-fibrosis-in-stargardt-s-disease-with-fundus-flavimaculatus-and-abca4-gene-mutation
#17
Settimio Rossi, Francesco Testa, Marcella Attanasio, Ada Orrico, Antonella de Benedictis, Michele Della Corte, Francesca Simonelli
PURPOSE: To report on 4 patients affected by Stargardt's disease (STGD) with fundus flavimaculatus (FFM) and ABCA4 gene mutation associated with subretinal fibrosis. METHODS: Four patients with a diagnosis of STGD were clinically examined. All 4 cases underwent a full ophthalmologic evaluation, including best-corrected visual acuity measured by the Snellen visual chart, biomicroscopic examination, fundus examination, fundus photography, electroretinogram, microperimetry, optical coherence tomography and fundus autofluorescence...
September 2012: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/23144455/retinoid-binding-properties-of-nucleotide-binding-domain-1-of-the-stargardt-disease-associated-atp-binding-cassette-abc-transporter-abca4
#18
Esther E Biswas-Fiss, Stephanie Affet, Malissa Ha, Subhasis B Biswas
The retina-specific ATP binding cassette transporter, ABCA4 protein, is associated with a broad range of inherited macular degenerations, including Stargardt disease, autosomal recessive cone rod dystrophy, and fundus flavimaculatus. In order to understand its role in retinal transport in rod out segment discs, we have investigated the interactions of the soluble domains of ABCA4 with both 11-cis- and all-trans-retinal. Using fluorescence anisotropy-based binding analysis and recombinant polypeptides derived from the amino acid sequences of the four soluble domains of ABCA4, we demonstrated that the nucleotide binding domain 1 (NBD1) specifically bound 11-cis-retinal...
December 28, 2012: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/22449572/clinical-and-genetic-characteristics-of-late-onset-stargardt-s-disease
#19
Sarah C Westeneng-van Haaften, Camiel J F Boon, Frans P M Cremers, Lies H Hoefsloot, Anneke I den Hollander, Carel B Hoyng
OBJECTIVE: To describe the genotype and phenotype of patients with a late-onset Stargardt's disease (STGD1). DESIGN: Retrospective case series. PARTICIPANTS: Twenty-one unrelated STGD1 patients with an age at onset of ≥45 years and ≥1 rare variant in the ABCA4 gene. METHODS: Ophthalmologic examination, including best-corrected visual acuity (VA), Amsler grid testing, fundus photography, fluorescein angiography (FA), spectral-domain optical coherence tomography (OCT), fundus autofluorescence (FAF) imaging, full-field electroretinography (ERG), multifocal ERG, and central visual field testing...
June 2012: Ophthalmology
https://www.readbyqxmd.com/read/22229821/phenotypic-and-genetic-spectrum-of-danish-patients-with-abca4-related-retinopathy
#20
Morten Duno, Marianne Schwartz, Pernille L Larsen, Thomas Rosenberg
BACKGROUND: Pathogenic variations in the ABCA4 gene were originally recognized as genetic background for the autosomal recessive disorders Stargardt disease and fundus flavimaculatus, but have expanded to embrace a diversity of retinal diseases, giving rise to the new diagnostic term, ABCA4-related retinopathy. Diagnostic genotyping of ABCA4 is complicated by the large size of the gene and the existence of approximately 600 known pathogenic variations, along with numerous rare polymorphisms...
December 2012: Ophthalmic Genetics
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