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https://www.readbyqxmd.com/read/29664989/choroidal-caverns-a-previously-unreported-optical-coherence-tomography-finding-in-best-vitelliform-dystrophy
#1
Adriano Carnevali, Riccardo Sacconi, Eleonora Corbelli, Lea Querques, Francesco Bandello, Giuseppe Querques
Best vitelliform macular dystrophy (VMD) is an autosomal dominant inherited dystrophy, most frequently caused by mutations in the BEST1 gene. The authors describe "choroidal caverns," a previously unreported optical coherence tomography finding in the choriocapillary and choroid of Best VMD. Histopathologic examination in eyes with Best VDM shows extensive deposition of lipofuscin in the retinal pigment epithelium (RPE) throughout the retina and accumulation of fibrillar material under the RPE and in the choroid...
April 1, 2018: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/29660606/generation-of-induced-pluripotent-stem-cells-from-a-patient-with-best-dystrophy-carrying-11q12-3-best1-vmd2-mutation
#2
Chih-Chien Hsu, Huai-En Lu, Jen-Hua Chuang, Yu-Ling Ko, Yi-Ching Tsai, Hsiao-Yun Tai, Aliaksandr A Yarmishyn, De-Kuang Hwang, Mong-Lien Wang, Yi-Ping Yang, Shih-Jen Chen, Chi-Hsien Peng, Shih-Hwa Chiou, Tai-Chi Lin
Best disease (BD), also termed Best vitelliform macular dystrophy (BVMD), is a juvenile-onset form of macular degeneration and central visual loss. In this report, we generated an induced pluripotent stem cell (iPSC) line, TVGH-iPSC-012-04, from the peripheral blood mononuclear cells of a female patient with BD by using the Sendai virus delivery system. The resulting iPSCs retained the disease-causing DNA mutation, expressed pluripotent markers and could differentiate into three germ layers. We believe that BD patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease...
April 3, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29656284/findings-of-optical-coherence-tomography-angiography-in-best-vitelliform-macular-dystrophy
#3
Xiao Na Wang, Qi Sheng You, Qian Li, Yang Li, Yu Mao, Feng Hu, Hui Ying Zhao, Frank F Tsai, Xiao Yan Peng
PURPOSE: To evaluate the vascular anatomy of eyes with Best vitelliform macular dystrophy (BVMD) using optical coherence tomography angiography (OCTA). METHODS: This retrospective case-control study enrolled 11 consecutive BVMD patients and 13 age-matched healthy participants. Both eyes of each participant were imaged using a macular OCTA scan (3 × 3 mm) by 70-kHz 840-nm spectral-domain OCT. The flow signal was calculated using the split-spectrum amplitude-decorrelation angiography (SSADA) algorithm...
April 13, 2018: Ophthalmic Research
https://www.readbyqxmd.com/read/29643786/association-of-optic-nerve-head-drusen-with-best-vitelliform-macular-dystrophy-a-case-series
#4
Robert J White, Daniel J Watson, Dara D Koozekanani, Sandra R Montezuma
Purpose: To report the association of optic nerve head (ONH) drusen with Best vitelliform macular dystrophy (BVMD). Methods: Chart review. Patients: Five patients from 3 families. Results: Multimodal imaging and ophthalmic examination demonstrated findings consistent with ONH drusen, in association with BVMD, in 5 patients. Conclusion: We report the association of BVMD with ONH drusen in 5 patients...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29559493/acute-exudative-polymorphous-vitelliform-maculopathy-syndrome-natural-history-and-evolution-of-fundal-and-oct-images-over-time
#5
Patrick Murtagh, Maxwell Treacy, Kirk Stephenson, Ian Dooley
A 33-year-old man presented with a 10-day history of bilateral blurred vision on a background of a prodromal influenza-like illness. Ocular Coherence Tomography (OCT) and fundal examination coincided with a diagnosis of atypical central serous retinopathy. The patient's symptoms worsened during follow-up, and he was started on steroids. Subsequent fundal examination revealed yellow deposits in a honeycomb pattern and hard exudates in the perimacular region. Serial OCTs revealed progression of bilateral macular intraretinal and subretinal fluid...
March 20, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29538181/optical-coherence-tomography-angiography-in-the-management-of-age-related-macular-degeneration
#6
Eric W Schneider, Samuel C Fowler
PURPOSE OF REVIEW: Optical coherence tomography angiography (OCT-A) provides rapid, flow-based imaging of the retinal and choroidal vasculature in a noninvasive manner. This review contrasts this novel technique with conventional angiography and discusses its current uses and limitations in the management of age-related macular degeneration (AMD). RECENT FINDINGS: Initial work with OCT-A has focused on its ability to identify choriocapillaris flow alterations in dry AMD and to sensitively detect choroidal neovascular membranes (CNVs) in neovascular AMD...
March 13, 2018: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/29449036/vitelliform-retinopathy-associated-with-breast-cancer
#7
Á Fernández-Vega González
No abstract text is available yet for this article.
February 12, 2018: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29380781/tuberous-sclerosis-complex-with-best-s-vitelliform-macular-dystrophy-a-combined-presentation
#8
Abhinav Dhami, P Vijayalakshmi Devi, Muna Bhende
No abstract text is available yet for this article.
February 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29288639/retinal-vascular-impairment-in-best-vitelliform-macular-dystrophy-assessed-by-means-of-optical-coherence-tomography-angiography
#9
Maurizio Battaglia Parodi, Francesco Romano, Maria Vittoria Cicinelli, Alessandro Rabiolo, Alessandro Arrigo, Luisa Pierro, Pierluigi Iacono, Francesco Bandello
PURPOSE: To evaluate vascular abnormalities at superficial (SCP) and deep (DCP) capillary plexuses and choriocapillaris (CC) in patients with Best vitelliform macular dystrophy (BVMD) by means of optical coherence tomography angiography (OCT-A). DESIGN: Cross-sectional case series. METHODS: Sixty-six eyes of 33 patients with BVMD (16 male) and 33 controls were consecutively enrolled. Patients were subdivided into classic stages and underwent best-corrected visual acuity (BCVA), fundus autofluorescence and spectral domain-optical coherence tomography, and 4...
March 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29283129/retinal-pigment-epithelium-aperture-a-late-onset-complication-in-adult-onset-foveomacular-vitelliform-dystrophy
#10
Reema Bansal, Sonam Yangzes, Ramandeep Singh, Deeksha Katoch, Mangat R Dogra, Vishali Gupta, Amod Gupta
PURPOSE: The purpose of the study was to report aperture of retinal pigment epithelium (RPE) as a late complication and an unreported finding during the natural course of adult-onset foveomacular vitelliform dystrophy (AFVD). METHODS: Four diagnosed cases of AFVD followed for a period ranging from 4 to 8 years. All patients had documented records of clinical examination, fundus autofluorescence and fluorescein angiography, and spectral domain-optical coherence tomography at regular intervals...
January 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29219932/cuticular-drusen-in-an-indigenous-australian
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/29176532/paraneoplastic-vitelliform-maculopathy-associated-with-metastatic-melanoma
#15
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
#16
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
#17
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...
January 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29106913/tractional-abnormalities-of-the-central-foveal-bouquet-in-epiretinal-membranes-clinical-spectrum-and-pathophysiological-perspectives
#18
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...
December 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29068911/acquired-vitelliform-lesions-that-respond-to-immune-suppression-in-a-patient-with-sarcoidosis
#19
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
#20
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
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