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fundus flavimaculatus

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
G Espinosa-Barberi, C López Cotín
No abstract text is available yet for this article.
February 26, 2018: Archivos de la Sociedad Española de Oftalmología
A Ozkaya, R Garip, H Nur Tarakcioglu, Z Alkin, M Taskapili
PURPOSE: To evaluate the clinical and multimodal imaging findings of various pattern dystrophy (PD) subtypes and report the initial misdiagnosis rate of PD patients resulting in unnecessary treatment in actual clinical practice. METHODS: Retrospective, observational study. Forty eyes of 24 patients with PD were included. The distribution of PD subtypes, optical coherence tomography (OCT) and fundus autofluorescence (FAF) findings, initial misdiagnoses, revised diagnoses, duration between misdiagnosis and revised diagnosis, and unnecessary treatments administered were evaluated over this time-period...
January 2018: Journal Français D'ophtalmologie
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...
January 2018: European Journal of Ophthalmology
Vinod Kumar
PURPOSE: To characterize autofluorescence (AF) patterns occurring in Stargardt macular dystrophy (STGD1) using ultra-wide-field (UWF) imaging. METHODS: This paper is a cross-sectional observational study of 22 eyes of 11 patients (mean age 23.44 years) with Stargardt disease-fundus flavimaculatus who presented with decrease of vision at a tertiary eye care center. UWF short-wave AF images were obtained from all the patients using an Optos TX200 instrument. The main outcome measures were to assess patterns of AF changes seen on UWF AF imaging...
October 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
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...
April 2018: Retinal Cases & Brief Reports
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
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...
August 15, 2016: Human Molecular Genetics
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
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
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
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
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
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
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
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
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
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
Sandeep Saxena, Nibha Mishra, Carsten H Meyer
No abstract text is available yet for this article.
2012: Journal of Ocular Biology, Diseases, and Informatics
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
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