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https://www.readbyqxmd.com/read/29219932/cuticular-drusen-in-an-indigenous-australian
#1
William J Cunningham, Chandrakumar Balaratnasingam, Yi Chen, Fred K Chen
BACKGROUND/PURPOSE: To report a case of cuticular drusen in an indigenous Australian. METHODS: A 37-year-old indigenous (aboriginal) Australian woman from a remote Western Australian town presented with a 2-month history of vision loss. Clinical history, examination, and multimodal retinal imaging data from spectral domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, and indocyanine green angiography were analyzed. RESULTS: Multimodal imaging confirmed cuticular drusen complicated by a right choroidal neovascularization with pigment epithelial detachment and a left foveal vitelliform lesion...
December 5, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29217515/choroidal-neovascular-membrane-in-paediatric-patients-clinical-characteristics-and-outcomes
#2
Tapas Ranjan Padhi, Bradley J Anderson, Ashkan M Abbey, Yoshihiro Yonekawa, Maxwell Stem, Danish Alam, Rohit Ramesh Modi, Laxmi Prabhavathi Savla, Michael T Trese, Antonio Capone, Kimberly A Drenser, Cagri G Besirli
PURPOSE: To analyse the clinical characteristics and treatment outcomes of choroidal neovascular membranes (CNVM) in paediatric subjects at three paediatric retina referral centres. METHODS: Medical charts of patients aged 18 years or less with a diagnosis of CNVM were retrospectively reviewed. The demographic profile, laterality, presenting complaint, corrected vision, underlying pathology, fundus, fundus fluorescein angiogram and optical coherence tomogram (OCT) were analysed...
December 7, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29215532/imaging-of-vitelliform-macular-lesions-using-polarization-sensitive-optical-coherence-tomography
#3
Gábor G Deák, Wolfgang M Schmidt, Reginald E Bittner, Georgios Mylonas, Philipp K Roberts, Stefan Zotter, Bernhard Baumann, Michael Pircher, Christoph K Hitzenberger, Ursula M Schmidt-Erfurth, Markus Ritter
PURPOSE: To examine the involvement of the retinal pigment epithelium (RPE) in the presence of vitelliform macular lesions (VML) in Best vitelliform macular dystrophy (BVMD), autosomal recessive bestrophinopathy, and adult-onset vitelliform macular degeneration using polarization-sensitive optical coherence tomography (PS-OCT). METHODS: A total of 35 eyes of 18 patients were imaged using a PS-OCT system and blue light fundus autofluorescence imaging. Pathogenic mutations in the BEST1 gene, 3 of which were new, were detected in all patients with BVMD and autosomal recessive bestrophinopathy...
December 5, 2017: Retina
https://www.readbyqxmd.com/read/29195727/clinical-and-imaging-findings-of-pattern-dystrophy-subtypes-diagnostic-errors-and-unnecessary-treatment-in-clinical-practice
#4
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...
November 28, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29176532/paraneoplastic-vitelliform-maculopathy-associated-with-metastatic-melanoma
#5
Mansour Rahimi, Eduardo V Navajas, David Sarraf
PURPOSE: To report a case of paraneoplastic vitelliform maculopathy in a patient with metastatic melanoma of unknown primary site. METHODS: Case report. Main outcome measures include funduscopic examination, fluorescein angiography, fundus autofluorescence, and spectral domain optical coherence tomography. RESULTS: A 44-year-old man with a known history of metastatic melanoma was referred for ophthalmic evaluation because of bilateral vision loss...
November 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29150214/multifocal-best-s-disease-the-importance-of-genetic-tests
#6
C Alba Linero, M Rodríguez Calvo de Mora, M España Contreras, C Hernando Ayala
OBJECTIVES AND METHODS: Our objective is to describe a multifocal vitelliform presentation of Best's disease. The lesions in this disease may vary in size and shape, some may be a disc diameter in size, and often have some irregularity in their contour. The case is described of a 21-year-old male patient referred to our ophthalmology department due to a progressive loss of vision. His poor visual acuity was confirmed, and a complete examination was performed, in which macular flecks were observed, with yellow pigment arranged in oval distribution near their periphery...
November 14, 2017: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29115605/genetic-variations-in-bestrophin%C3%A2-1-and-associated-clinical-findings-in-two-chinese-patients-with-juvenile%C3%A2-onset-and-adult%C3%A2-onset-best-vitelliform-macular-dystrophy
#7
Ying Lin, Tao Li, Chenghong Ma, Hongbin Gao, Chuan Chen, Yi Zhu, Bingqian Liu, Yu Lian, Ying Huang, Haichun Li, Qingxiu Wu, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Jianhua Ye, Lin Lu
Best vitelliform macular dystrophy (BVMD) is a hereditary retinal disease characterized by the bilateral accumulation of large egg yolk‑like lesions in the sub‑retinal and sub‑retinal pigment epithelium spaces. Macular degeneration in BVMD can begin in childhood or adulthood. The variation in the age of onset is not clearly understood. The present study characterized the clinical characteristics of two Chinese patients with either juvenile‑onset BVMD or adult‑onset BVMD and investigated the underlying genetic variations...
October 27, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29106913/tractional-abnormalities-of-the-central-foveal-bouquet-in-epiretinal-membranes-clinical-spectrum-and-pathophysiological-perspectives
#8
Andrea Govetto, Kavita V Bhavsar, Gianni Virgili, Matthew J Gerber, K Bailey Freund, Christine A Curcio, Claude F Burgoyne, Jean-Pierre Hubschman, David Sarraf
PURPOSE: To investigate the tractional alterations of the central bouquet (CB) in idiopathic epiretinal membranes (ERMs). DESIGN: Retrospective, consecutive, observational case series. METHODS: ERMs were classified according to a 4-stage grading system. The CB was defined as a circular area of approximately 100 μm composed of densely packed cones (and Müller cells) in the central fovea. Tractional abnormalities of the CB were identified with spectral-domain optical coherence tomography...
October 26, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29068911/acquired-vitelliform-lesions-that-respond-to-immune-suppression-in-a-patient-with-sarcoidosis
#9
Hans B Heymann, Lee M Jampol
PURPOSE: To describe a patient with sarcoid uveitis who developed bilateral vitelliform lesions with subretinal fluid that responded to immune suppression on three occasions. METHODS: Chart review was performed on a single patient to collect all relevant clinical information and diagnostic imaging. RESULTS: A case of sarcoidosis with acquired vitelliform lesions is described. CONCLUSION: Patients with ocular sarcoidosis can rarely develop vitelliform lesions...
October 24, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29065010/intraretinal-hyperreflective-foci-in-best-vitelliform-macular-dystrophy
#10
Maurizio Battaglia Parodi, Francesco Romano, Riccardo Sacconi, Stefano Casati, Giorgio Marchini, Francesco Bandello, Pierluigi Iacono
PURPOSE: To report on the presence of hyperreflective foci (HF) on spectral domain optical coherence tomography in patients with Best vitelliform macular dystrophy (BVMD), and to describe the relationship between HF and stages of the disease. METHODS: Consecutive patients diagnosed with BVMD were enrolled in a prospective cross-sectional study. All patients and control subjects underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography...
October 23, 2017: Retina
https://www.readbyqxmd.com/read/29020430/acute-exudative-polymorphous-paraneoplastic-vitelliform-maculopathy-managed-with-intravitreal-aflibercept
#11
Kaan Gündüz, Gökçen Çöndü, Carol L Shields
The authors report on two patients with bilateral acute exudative polymorphous paraneoplastic vitelliform maculopathy (AEPPVM) treated with intravitreal aflibercept (Eylea; Regeneron, Tarrytown, NY [marketed locally in Turkey by Bayer]). Underlying malignancy had been treated in each case, including breast carcinoma in one case and colon carcinoma in the other case. A macular vitelliform lesion was noted in the right eye and atrophic retinal pigment epithelial (RPE) changes were noted in the left eye of each case...
October 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29016530/reabsorption-of-acquired-vitelliform-lesions-in-vitreomacular-disorders-after-vitrectomy
#12
Giulio Bamonte, Andrea Appeltans, Maria Vittoria Cicinelli, Giuseppe Querques
PURPOSE: To describe cases of reabsorption of subretinal acquired vitelliform material (acquired vitelliform lesion [AVL]) associated with vitreomacular disorders after 25-gauge pars plana vitrectomy and peeling of internal limiting membrane. METHODS: Data of consecutive patients who underwent 25-gauge transconjunctival pars plana vitrectomy for vitreomacular disorders at the Department of Ophthalmology of the University Hospital of Brussels (Belgium) were collected...
October 9, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28971288/quantitative-changes-in-flow-density-in-patients-with-adult-onset-foveomacular-vitelliform-dystrophy-an-oct-angiography-study
#13
Maximilian Treder, Jost Lennart Lauermann, Maged Alnawaiseh, Peter Heiduschka, Nicole Eter
PURPOSE: To quantitatively compare the flow density, the retinal thickness, and the area of the foveal avascular zone (FAZ) between patients with adult-onset foveomacular vitelliform dystrophy (AOFVD) and a healthy controls. METHODS: Thirteen eyes (eight patients) with AOFVD and 13 matched eyes (13 patients) without any ocular pathology were included in this study. A 6 × 6 mm optical coherence tomography angiography (OCTA) scan was performed for every included eye...
October 3, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28964580/cuticular-drusen-clinical-phenotypes-and-natural-history-defined-using-multimodal-imaging
#14
Chandrakumar Balaratnasingam, Svetlana Cherepanoff, Rosa Dolz-Marco, Murray Killingsworth, Fred K Chen, Randev Mendis, Sarah Mrejen, Lay Khoon Too, Orly Gal-Or, Christine A Curcio, K Bailey Freund, Lawrence A Yannuzzi
PURPOSE: To define the range and life cycles of cuticular drusen phenotypes using multimodal imaging and to review the histologic characteristics of cuticular drusen. DESIGN: Retrospective, observational cohort study and experimental laboratory study. PARTICIPANTS: Two hundred forty eyes of 120 clinic patients with a cuticular drusen phenotype and 4 human donor eyes with cuticular drusen (n = 2), soft drusen (n = 1), and hard drusen (n = 1)...
September 27, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28941524/juvenile-macular-degenerations
#15
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/28844323/idiopathic-acute-exudative-polymorphous-vitelliform-maculopathy-clinical-spectrum-and-multimodal-imaging-characteristics
#16
Irene Barbazetto, Kunal K Dansingani, Rosa Dolz-Marco, Alfonso Giovannini, F C Piccolino, Anita Agarwal, Lawrence A Yannuzzi
PURPOSE: To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM). DESIGN: Retrospective, observational, multicenter case series review. PARTICIPANTS: Consecutive patients diagnosed with idiopathic AEPVM. METHODS: Review of clinical charts, multimodal imaging, electrophysiologic findings, and genetic findings in previously unpublished patients and review of the literature...
August 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28831140/adult-onset-vitelliform-macular-dystrophy-caused-by-best1-p-ile38ser-mutation-is-a-mild-form-of-best-vitelliform-macular-dystrophy
#17
Ikhyun Jun, Joon Suk Lee, Ji Hwan Lee, Christopher Seungkyu Lee, Seung-Il Choi, Heon Yung Gee, Min Goo Lee, Eung Kweon Kim
Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38Ser and confirmed the associated physiological functional defects. The 51-year-old patient presented bilateral small subretinal yellow deposits. Consistent with AVMD, the corresponding lesions showed hyperautofluorescence, late staining in fluorescein angiography, and subretinal hyper-reflective materials in spectral-domain optical coherence tomography...
August 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28817420/optical-coherence-tomography-angiography-for-the-detection-of-secondary-choroidal-neovascularization-in-vitelliform-macular-dystrophy
#18
Martin Stattin, Daniel Ahmed, Carl Glittenberg, Ilse Krebs, Siamak Ansari-Shahrezaei
PURPOSE: Optical coherence tomography angiography (OCTA) is used to assess vascular abnormality in advanced stage vitelliform macular dystrophy (VMD2). METHODS: Multimodal imaging including spectral domain (SD) OCT, autofluorescence (AF), fluorescein (FA) and indocyanine green angiography (ICGA) as well as optical coherence tomography angiography were performed. PATIENTS: Two eyes in one young patient with diagnosed vitelliform macular dystrophy were investigated for progressive visual dysfunction...
August 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28817343/suppression-of-choroidal-neovascularization-in-mice-by-subretinal-delivery-of-multigenic-lentiviral-vectors-encoding-anti-angiogenic-micrornas
#19
Anne Louise Askou, Josephine Natalia Esther Benckendorff, Andreas Holmgaard, Tina Storm, Lars Aagaard, Toke Bek, Jacob Giehm Mikkelsen, Thomas Juhl Corydon
Lentivirus-based vectors have been used for the development of potent gene therapies. Here, application of a multigenic lentiviral vector (LV) producing multiple anti-angiogenic microRNAs following subretinal delivery in a laser-induced choroidal neovascularization (CNV) mouse model is presented. This versatile LV, carrying back-to-back RNApolII-driven expression cassettes, enables combined expression of microRNAs targeting vascular endothelial growth factor A (Vegfa) mRNA and fluorescent reporters. In addition, by including a vitelliform macular dystrophy 2 (VMD2) promoter, expression of microRNAs is restricted to the retinal pigment epithelial (RPE) cells...
August 2017: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/28806213/maintenance-of-good-visual-acuity-in-best-disease-associated-with-chronic-bilateral-serous-macular-detachment
#20
Sarra Gattoussi, Camiel J F Boon, K Bailey Freund
PURPOSE: We describe the long-term follow-up of a patient with multifocal Best disease with chronic bilateral serous macular detachment and unusual peripheral findings associated with a novel mutation in the BEST1 gene. METHODS: Case report. RESULTS: A 59-year-old white woman was referred for an evaluation of her macular findings in 1992. There was a family history of Best disease in the patient's mother and a male sibling. Her medical history was unremarkable...
August 10, 2017: Retinal Cases & Brief Reports
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