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https://www.readbyqxmd.com/read/28817420/optical-coherence-tomography-angiography-for-the-detection-of-secondary-choroidal-neovascularization-in-vitelliform-macular-dystrophy
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28800018/the-expanding-clinical-spectrum-of-choroidal-excavation-in-macular-dystrophies
#4
Maurizio Battaglia Parodi, Giuseppe Casalino, Pierluigi Iacono, Ugo Introini, Tatevik Adamyan, Francesco Bandello
PURPOSE: To assess the prevalence and the clinical course of focal choroidal excavation (FCE) in patients affected by macular dystrophies. METHODS: Prospective case series. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. The presence of choroidal neovascularization (CNV) was assessed on the basis of the leakage detected on fluorescein angiography. RESULTS: A total of 162 eyes from 81 patients with macular dystrophy were included in the study...
August 9, 2017: Retina
https://www.readbyqxmd.com/read/28791410/bestrophin-1-gene-analysis-and-associated-clinical-findings-in-a-chinese-patient-with-best-vitelliform-macular-dystrophy
#5
Ying Lin, Tao Li, Hongbin Gao, Yu Lian, Chuan Chen, Yi Zhu, Yonghao Li, Bingqian Liu, Wenli Zhou, Hongye Jiang, Xialin Liu, Xiujuan Zhao, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu
The aim of the present study was to investigate the clinical characteristics and the underlying genetic causes of Best vitelliform macular dystrophy (BVMD) in a sporadic case in a Chinese patient. A 10‑year‑old boy was diagnosed with BVMD; complete ophthalmic examinations were performed, including best‑corrected visual acuity, intraocular pressure, slit‑lamp examination, fundus photograph, optical coherence tomography and fundus fluorescein angiography imaging. Genomic DNA was extracted from leukocytes of the peripheral blood collected from this patient and his family members...
August 4, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28765145/optical-coherence-tomography-angiography-characterisation-of-best-disease-and-associated-choroidal-neovascularisation
#6
Abhilash Guduru, Arushi Gupta, Mudit Tyagi, Subhadra Jalali, Jay Chhablani
AIMS: To characterise the vasculature of the retina in patients with Best vitelliform dystrophy, including those with choroidal neovascularisation (CNV), using optical coherence tomography angiography (OCTA) and correlate with fluorescein angiography (FA). METHODS: This prospective observational study included 19 eyes of 10 patients with Best disease. Using OCTA, all layers of retina were qualitatively characterised for each eye. Patients with CNV also underwent FA, and areas of CNV were measured by OCTA and FA and correlated...
August 1, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28750559/suppression-of-choroidal-neovascularization-in-mice-by-subretinal-delivery-of-multigenic-lentiviral-vectors-encoding-anti-angiogenic-micrornas
#7
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, we present application of a multigenic lentiviral vector (LV) producing multiple anti-angiogenic microRNAs following subretinal delivery in a laser-induced choroidal neovascularization (CNV) mouse model. 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...
July 27, 2017: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/28728185/novel-presenting-phenotype-in-a-child-with-autosomal-dominant-best-s-vitelliform-macular-dystrophy
#8
Yasmine F Abdalla, Gabriella De Salvo, Ahmad Elsahn, James E Self
Best's macular dystrophy (BMD) usually manifests with visual failure in the first or second decade of life; however, there is a large variability in expressivity of the disease, and some patients have no manifestation other than a pathological electro-oculogram (EOG). Autosomal dominant Best's vitelliform macular dystrophy (AD-BVMD) has a very specific phenotype that varies with the stage of the disease. In recent years, the authors have seen description of another clinical entity known as autosomal recessive BMD...
July 1, 2017: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/28687848/screening-of-best1-gene-in-a-chinese-cohort-with-best-vitelliform-macular-dystrophy-or-autosomal-recessive-bestrophinopathy
#9
Lu Tian, Tengyang Sun, Ke Xu, Xiaohui Zhang, Xiaoyan Peng, Yang Li
Purpose: Mutations in the BEST1 gene can cause Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The aim of the current study was to establish the BEST1 mutation spectrum in Chinese patients with BVMD and ARB and to describe the phenotypic characteristics of patients carrying BEST1 mutations. Methods: A total of 37 probands with a clinical diagnosis of BVMD (17 patients) or ARB (20 patients) were recruited for genetic analysis; of these, only 5 probands had a family history...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28644393/mutations-in-the-genes-for-interphotoreceptor-matrix-proteoglycans-impg1-and-impg2-in-patients-with-vitelliform-macular-lesions
#10
Caroline Brandl, Heidi L Schulz, Peter Charbel Issa, Johannes Birtel, Richard Bergholz, Clemens Lange, Claudia Dahlke, Ditta Zobor, Bernhard H F Weber, Heidi Stöhr
A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD patients in two genes encoding secreted interphotoreceptor matrix proteoglycans-1 and -2 (IMPG1 and IMPG2). We identified two novel mutations in IMPG1 in two simplex VMD cases with disease onset in their early childhood, a heterozygous p.(Leu238Pro) missense mutation and a homozygous c...
June 23, 2017: Genes
https://www.readbyqxmd.com/read/28632405/reading-performance-improvements-in-patients-with-central-vision-loss-without-age-related-macular-degeneration-after-undergoing-personalized-rehabilitation-training
#11
María B Coco-Martín, Alberto López-Miguel, Rubén Cuadrado, Agustín Mayo-Iscar, Azael J Herrero, José C Pastor, Miguel J Maldonado
PURPOSE: To evaluate the efficacy of a reading rehabilitation program (RRP) in patients with central visual loss (CVL) and assess the impact of the RRP on the quality of life (QoL). METHODS: The RRP included four in-office and 39 in-home training sessions over 6 weeks. Reading speed, duration, and font size were evaluated during each in-office session. The subjective perception of the QoL was assessed before and after the RRP using the short version of a questionnaire (World Health Organization Quality of Life)...
June 20, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28614138/acute-exudative-paraneoplastic-polymorphous-vitelliform-maculopathy-during-vemurafenib-and-pembrolizumab-treatment-for-metastatic-melanoma
#12
Harpal S Sandhu, Anton M Kolomeyer, Marisa K Lau, Carol L Shields, Lynn M Schuchter, Charles W Nichols, Tomas S Aleman
PURPOSE: To describe a patient with BRAF mutation-positive cutaneous melanoma who developed acute exudative polymorphous vitelliform maculopathy during vemurafenib and pembrolizumab treatment for metastatic melanoma. METHODS: Retrospective case report documented with wide-field fundus imaging, spectral domain optical coherence tomography, and fundus autofluorescence imaging. RESULTS: A 55-year-old woman with bilateral ductal breast carcinoma and BRAF mutation-positive metastatic cutaneous melanoma complained of bilateral blurred vision within 5 days of starting vemurafenib (BRAF inhibitor)...
June 13, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28573994/microperimetric-evaluation-in-patients-with-adult-onset-foveomacular-vitelliform-dystrophy
#13
Pier Luigi Grenga, Serena Fragiotta, Alessandro Cutini, Alessandro Meduri, Enzo Maria Vingolo
INTRODUCTION: To compare mean best-corrected visual acuity (BCVA), retinal sensitivity (RS), and bivariate contour ellipse area (BCEA) in patients with adult-onset foveomacular vitelliform dystrophy (AOFVD) and healthy subjects (HSs), reporting also functional disease-related changes in the different stages of the AOFVD disease. MATERIALS AND METHODS: In this observational cross-sectional study, a total of 19 patients (30 eyes; 12 female and 7 male) with AOFVD were enrolled, and 30 patients (30 eyes; 16 female and 14 male) were recruited as age-matched control group (74...
May 2017: Indian Journal of Ophthalmology
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
#14
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/28376040/spectral-domain-optical-coherence-tomography-features-in-different-stages-of-best-vitelliform-macular-dystrophy
#15
Maurizio Battaglia Parodi, Pierluigi Iacono, Francesco Romano, Francesco Bandello
PURPOSE: To provide a systematic classification of findings regarding the different stages of vitelliform macular dystrophy on spectral domain optical coherence tomography (SD-OCT). METHODS: Ninety-four eyes of 47 patients were recruited in a prospective cross-sectional study. All patients underwent a complete ophthalmologic examination, including best-corrected visual acuity using Early Treatment Diabetic Retinopathy Study (ETDRS) charts, biomicroscopy, and SD-OCT...
April 3, 2017: Retina
https://www.readbyqxmd.com/read/28338556/adult-onset-foveomacular-vitelliform-dystrophy-evaluated-by-means-of-optical-coherence-tomography-angiography-a-comparison-with-dry-age-related-macular-degeneration-and-healthy-eyes
#16
Lisa Toto, Enrico Borrelli, Rodolfo Mastropasqua, Luca Di Antonio, Peter A Mattei, Paolo Carpineto, Leonardo Mastropasqua
PURPOSE: To investigate alterations of superficial and deep retinal vascular densities, as well as of choroidal thickness, in patients affected by adult-onset foveomacular vitelliform dystrophy (AOFVD). METHODS: A total of 22 eyes (15 patients) affected by AOFVD were recruited in the study. Furthermore, 20 eyes of 20 healthy subjects and 20 eyes of 18 patients affected by intermediate dry age-related macular degeneration (AMD) were enrolled. All patients underwent a complete ophthalmologic examination, including optical coherence tomography angiography...
March 23, 2017: Retina
https://www.readbyqxmd.com/read/28333857/successful-closure-of-full-thickness-macular-holes-secondary-to-macular-vitelliform-lesions
#17
Justin C Galvin, Brian E Chua, Adrian T Fung
PURPOSE: To describe the first reported cases of full-thickness macular holes secondary to vitelliform lesions that were successfully closed with vitrectomy surgery and gas tamponade. METHODS: Two female patients developed visual loss secondary to bilateral vitelliform lesions and associated full-thickness macular holes. The patients underwent 25-gauge pars plana vitrectomy, internal limiting membrane peeling, and 26% sulfur hexafluoride gas, followed by 3 days of face-down positioning...
March 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28301340/microperimetry-in-best-vitelliform-macular-dystrophy
#18
Maurizio Battaglia Parodi, Niccolò Castellino, Pierluigi Iacono, Itay Chowers, Theodoros Empeslidis, Michaella Goldstein, Francesco Bandello
PURPOSE: To investigate retinal sensitivity in eyes with all the clinical stages of Best vitelliform macular dystrophy (VMD). METHODS: Thirty-two patients affected by VMD in subclinical, vitelliform, pseudohypopyon, vitelliruptive, and atrophic stages were enrolled in this prospective cross-sectional study. Patients underwent a complete ophthalmologic examination, including determination of best-corrected visual acuity (BCVA), staging of the disease (Gass's classification), and microperimetry by means of the macular integrity assessment microperimeter...
March 15, 2017: Retina
https://www.readbyqxmd.com/read/28198786/optical-coherence-tomography-angiography-in-adult-onset-foveomacular-vitelliform-dystrophy
#19
Komal M Joshi, Peter L Nesper, Amani A Fawzi, Rukhsana G Mirza
PURPOSE: To determine the ability of optical coherence tomography angiography (OCTA) to detect choroidal neovascularization (CNV) in the pseudohypopyon stage of adult-onset foveomacular vitelliform dystrophy. METHODS: Prospective case series of eight consecutive patients with adult-onset foveomacular vitelliform dystrophy with at least one eye in the pseudohypopyon stage (a total of 14 eyes). Patients were assessed with spectral domain OCT, flourescein angiography, and OCTA...
February 14, 2017: Retina
https://www.readbyqxmd.com/read/28187978/optical-coherence-tomography-examination-of-the-retinal-pigment-epithelium-in-best-vitelliform-macular-dystrophy
#20
COMPARATIVE STUDY
Cynthia X Qian, Dionisio Charran, Cameron R Strong, Timothy J Steffens, Thiran Jayasundera, John R Heckenlively
PURPOSE: To describe the anatomic changes and natural history of vitelliform lesions in Best vitelliform macular dystrophy (BVMD) using spectral-domain optical coherence tomography (OCT). DESIGN: Prospective comparative case series. PARTICIPANTS: Twenty patients (40 eyes) with molecular confirmation of mutation in the BEST1 gene and 20 age-matched controls were included. METHODS: Color fundus photographs, fundus autofluorescence, and spectral-domain OCT were obtained, and these findings were compared between the 2 groups...
April 2017: Ophthalmology
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