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https://www.readbyqxmd.com/read/28102781/a-neurodevelopmental-disorder-with-a-nonsense-mutation-in-the-ox-2-antigen-domain-of-the-amyloid-precursor-protein-app-gene
#1
Khue Vu Nguyen, Karen Leydiker, Raymond Wang, Jose Abdenur, William L Nyhan
We report a patient, an infant with a neurodevelopmental disorder manifesting intractable complex partial epilepsy, bull's eye maculopathy, microcephaly, bilateral cataracts, truncal hypotonia, and spasticity of all four extremities. Sequencing of genomic DNA revealed mutations in (a) exon 8 (Ox-2 antigen domain) of the amyloid precursor protein (APP) gene: c.1075C>T, p.Arg359(*) (b) exon 8 of the senataxin (SETX) gene: c.4738C>T, p.Arg1580Cys, and (c) exon 2 of the ceroid-lipofuscinosis, neuronal 8 (CLN8) gene: c...
January 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28101043/effects-of-disseminated-mycobacterial-infection-on-age-related-macular-degeneration
#2
Geoffrey Collett, Natalia Lopez, Pedro F Lopez
Our patient, in the 7th decade of life, presented with worsening blurry vision over 3 weeks. The pertinent history included nonexudative age-related macular degeneration, recent pulmonary mycobacterial infection, and autoimmune pancreatitis. The patient had decreased visual acuity in both eyes; the remaining findings of our examination were relatively benign. The diagnosis of bilateral exudative age-related macular degeneration was aided by ocular imaging. Not only were exudative changes confirmed, but one modality suggested an underlying occult choroiditis, which presumably fueled a local inflammatory drive leading to evolution of the disease...
September 2016: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28099337/phototoxic-maculopathy-induced-by-quartz-infrared-heat-lamp-a-clinical-case-report
#3
Xinhua Zheng, Ping Xie, Zizhong Hu, Weiwei Zhang, Kang Liang, Xiuying Wang, Qinghuai Liu
RATIONALE: A large proportion of the output of quartz infrared heat lamps is emitted as infrared radiation (IR). Retinal damage induced by IR-A and visible light on arc welders has been reported. However, case reports of retinal damage caused by quartz infrared heat lamps are rare. To the best of our knowledge, this is the first reported case of phototoxic maculopathy induced by quartz infrared heat lamps. PATIENT CONCERNS: We report a female with a 1-month history of progressive blurred vision and dysmorphopsia in her right eye after improper staring at the tubes of a quartz infrared heater...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28098709/multimodal-imaging-during-the-evolution-of-blood-brain-barrier-disruption-maculopathy
#4
Bikramjit P Pal, Tapani Palosaari, Tero Kivelä
PURPOSE: To highlight the course of blood-brain barrier disruption maculopathy in a patient with successfully managed relapsed central nervous system lymphoma. METHODS: Case report with fundus autofluorescence and optical coherence tomography imaging, and literature review. RESULTS: A 57-year-old patient diagnosed with central nervous system large B-cell lymphoma had a normal ophthalmic evaluation on his first visit. Subsequently, when his malignancy recurred locally, he was started on blood-brain barrier disruption therapy and intraarterial methotrexate...
January 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28095100/association-of-combined-cigarette-smoking-and-arms2-loc387715-a69s-polymorphisms-with-age-related-macular-degeneration-a-meta-analysis
#5
Mohammad Hossein Jabbarpoor Bonyadi, Mehdi Yaseri, Mortaza Bonyadi, Masoud Soheilian, Homayoun Nikkhah
PURPOSE: The age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphism and cigarette smoking have been shown to have significant association with AMD. In this meta-analysis we used the results of available association studies of combined ARMS2/LOC387715 genotypes and cigarette smoking with AMD to estimate the possible synergistic or multiplicative effects. METHODS: Heterogeneity of studies was evaluated using the Cochran Q-test and the I-square index...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28079755/macular-pigment-distribution-responses-to-high-dose-zeaxanthin-supplementation-in-patients-with-macular-telangiectasia-type-2
#6
Rene Y Choi, Aruna Gorusupudi, Kimberley Wegner, Mohsen Sharifzadeh, Werner Gellermann, Paul S Bernstein
PURPOSE: To analyze macular pigment (MP) amount and distribution in patients with macular telangiectasia Type 2 receiving oral zeaxanthin supplementation in a randomized, open-label, interventional trial. METHODS: Eight macular telangiectasia Type 2 patients were randomized to 10 mg or 20 mg of zeaxanthin per day. At each visit, best-corrected visual acuity, contrast sensitivity, fundus biomicroscopy, color fundus photography, autofluorescence imaging, optical coherence tomography, and serum carotenoid levels were tested...
January 10, 2017: Retina
https://www.readbyqxmd.com/read/28073689/corneo-scleral-contact-lens-in-a-piggyback-system-for-keratoconus-a-case-report
#7
Esteban Porcar, Juan Carlos Montalt, Enrique España-Gregori, Cristina Peris-Martínez
PURPOSE: We describe a case of fitting a corneo-scleral contact lens with a multi-aspheric geometry design (MAGD CScL) on top of a daily silicone hydrogel lens (piggyback system) for keratoconus management. METHODS: A 48-year-old man using soft toric contact lenses required an improvement in the unsatisfactory quality of his vision. He presented with bilateral asymmetric keratoconus with high myopia in the right eye (RE) and severe myopia in the left eye (LE). In addition, he had low vision in his LE because of a maculopathy...
January 7, 2017: Contact Lens & Anterior Eye: the Journal of the British Contact Lens Association
https://www.readbyqxmd.com/read/28073426/the-prevention-and-treatment-of-retinal-complications-in-diabetes
#8
Susanne Gabriele Schorr, Hans-Peter Hammes, Ulrich Alfons Müller, Heinz-Harald Abholz, Rüdiger Landgraf, Bernd Bertram
BACKGROUND: Microvascular complications of diabetes mellitus can cause retino pathy and maculopathy, which can irreversibly damage vision and lead to blindness. The prevalence of retinopathy is 9-16% in patients with type 2 diabetes and 24-27% in patients with type 1 diabetes. 0.2-0.5% of diabetics are blind. METHODS: The National Disease Management Guideline on the prevention and treatment of retinal complications in diabetes was updated according to recommendations developed by seven scientific medical societies and organizations and by patient representatives and then approved in a formal consensus process...
December 2, 2016: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28053503/assessment-of-ischemia-in-acute-central-retinal-vein-occlusion-from-inner-retinal-reflectivity-on-spectral-domain-optical-coherence-tomography
#9
David J Browning, Omar S Punjabi, Chong Lee
PURPOSE: To determine the relationship between different spectral domain optical coherence tomography (SD-OCT) signs of retinal ischemia in acute central retinal vein occlusion (CRVO) and whether they predict anterior segment neovascularization (ASNV). DESIGN: Retrospective, observational study. SUBJECTS: Thirty-nine consecutive patients with acute CRVO and 12 months of follow-up. METHODS: We graded baseline SD-OCTs for increased reflectivity of the inner retina, loss of definition of inner retinal layers, presence of a prominent middle-limiting membrane (p-MLM) sign, and presence of paracentral acute middle maculopathy (PAMM)...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28029444/associations-between-serum-vitamin-d-and-genetic-variants-in-vitamin-d-pathways-and-age-related-macular-degeneration-in-the-european-eye-study
#10
Gareth J McKay, Ian S Young, Ann McGinty, Graham C G Bentham, Usha Chakravarthy, Mati Rahu, Johan Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Jesus Vioque, Paulus T V M de Jong, Astrid E Fletcher
PURPOSE: To study associations between early and late age-related macular degeneration (AMD) and neovascular AMD (nvAMD) with serum 25-hydroxy vitamin D (25(OH)D) and genetic variants in vitamin D pathway genes. DESIGN: Population-based, cross-sectional study in a random sample aged 65 years or older from 7 European countries. PARTICIPANTS: Of 4753 participants, 4496 (2028 men and 2468 women), with a mean age of 73 years, provided a blood sample; 2137 had no signs of AMD, 2209 had early AMD, and 150 had late AMD, of whom 104 had nvAMD...
October 28, 2016: Ophthalmology
https://www.readbyqxmd.com/read/28024825/automated-diabetic-retinopathy-image-assessment-software-diagnostic-accuracy-and-cost-effectiveness-compared-with-human-graders
#11
Adnan Tufail, Caroline Rudisill, Catherine Egan, Venediktos V Kapetanakis, Sebastian Salas-Vega, Christopher G Owen, Aaron Lee, Vern Louw, John Anderson, Gerald Liew, Louis Bolter, Sowmya Srinivas, Muneeswar Nittala, SriniVas Sadda, Paul Taylor, Alicja R Rudnicka
OBJECTIVE: With the increasing prevalence of diabetes, annual screening for diabetic retinopathy (DR) by expert human grading of retinal images is challenging. Automated DR image assessment systems (ARIAS) may provide clinically effective and cost-effective detection of retinopathy. We aimed to determine whether ARIAS can be safely introduced into DR screening pathways to replace human graders. DESIGN: Observational measurement comparison study of human graders following a national screening program for DR versus ARIAS...
December 23, 2016: Ophthalmology
https://www.readbyqxmd.com/read/28017486/outcomes-and-complications-after-phacoemulsification-in-retinoblastoma-patients-with-cataract-after-radiation-treatment
#12
M Velásquez-Aguilar, H Matiz-Moreno, M Amato-Almanza, C Y Chen-López, G Márquez-García, M A Ramírez-Ortiz
PURPOSE: To describe the visual outcome and complications associated with phacoemulsification in patients with bilateral retinoblastoma (Rb), with lens opacification secondary to external beam radiotherapy. METHODS: A descriptive study was performed on patients with Rb, treated in Federico Gomez Children's Hospital, Mexico, from January 1997 to August 2015, with external beam radiotherapy eye salvaging. Statistical analysis was performed using Stata 10. RESULTS: A total of 15 patients were included...
December 22, 2016: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/28009410/optical-coherence-tomography-angiography-findings-in-laser-maculopathy
#13
Livia Tomasso, Lucia Benatti, Carlo La Spina, Rosangela Lattanzio, Giovanni Baldin, Adriano Carnevali, Luigi A De Vitis, Lea Querques, Francesco Bandello, Giuseppe Querques
PURPOSE: Handheld laser pointer thermal injury affects primarily the retinal pigment epithelium (RPE). However, so far no study has reported on the possible effects of laser pointers in the deeper layers, beneath the RPE. Here, we describe the spectral-domain optical coherence tomography angiography findings in the choriocapillaris of a patient with laser maculopathy. METHODS: A 13-year-old boy presented to our department with decreased vision in the left eye 12 hours after having stared at the beam of a laser pointer...
November 28, 2016: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/27997511/clinical-outcomes-of-intravitreal-bevacizumab-versus-photodynamic-therapy-with-or-without-bevacizumab-for-myopic-choroidal-neovascularization-a-7-year-follow-up-study
#14
Eui Chun Kang, Jeong Gi Seo, Bo Ram Kim, Hyoung Jun Koh
PURPOSE: To compare the long-term visual outcomes of intravitreal bevacizumab (IVB) with those of photodynamic therapy (PDT) for myopic choroidal neovascularization over a 7-year period. METHODS: Eyes treated with IVB (17 eyes) or PDT (20 eyes) that were followed up for at least 7 years were included in this retrospective study. Myopic maculopathy was classified according to the international photographic classification before treatment. The best-corrected visual acuity (BCVA) and the chorioretinal atrophy (CRA) size were measured before and after treatment over a 7-year period...
December 16, 2016: Retina
https://www.readbyqxmd.com/read/27994814/bilateral-photic-maculopathy-following-pterygium-excision-spectral-domain-optical-coherence-tomography-findings
#15
Mohammad Hossein Jabbarpoor Bonyadi
PURPOSE: To report high resolution spectral domain optical coherence tomography (SD-OCT) findings in a case with bilateral photic maculopathy and resultant central scotoma following pterygium excision. CASE REPORT: A 38-year-old man with a history of pterygium excision complained of visual disturbance and annoying central scotoma in both eyes. Although he had subtle funduscopic and angiographic changes, SD-OCT precisely showed disruption of the photoreceptors inner segment/outer segment in the foveal center...
October 2016: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/27990495/optical-coherence-tomography-angiography-in-pediatric-choroidal-neovascularization
#16
Chiara Veronese, Chiara Maiolo, David Huang, Yali Jia, Grayson W Armstrong, Mariachiara Morara, Antonio P Ciardella
PURPOSE: To report two cases of pediatric choroidal neovascularization (CNV) and the associated neo-vascular and retinal findings identified on Optical Coherence Tomography Angiography (OCTA) imaging. METHODS: A 14-year-old boy with handheld laser-induced maculopathy-related CNV and a 13-year-old boy with idiopathic CNV were evaluated with visual acuity testing, slit-lamp exam, fundus photography, fluorescein angiography, indocyanine green angiography, spectral domain optical coherence tomography, and OCTA...
July 2016: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/27977838/multimodal-imaging-features-in-acute-exudative-paraneoplastic-polymorphous-vitelliform-maculopathy
#17
Daniel Q Li, John Golding, Carl Glittenberg, Netan Choudhry
An 85-year-old woman with stage IV breast cancer was referred for gradually progressive blurred vision. Dilated fundus examination revealed unifocal, yellow, round vitelliform lesions in the macular region of both eyes. The diagnosis of acute exudative paraneoplastic polymorphous vitelliform maculopathy (AEPPVM) was confirmed with swept-source optical coherence tomography (SS-OCT), fundus autofluorescence, and fluorescein angiography. SS-OCT angiography revealed normal vascular findings in both eyes. Multimodal imaging is useful in the diagnosis and monitoring of AEPPVM and may further the understanding of its pathophysiology...
December 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
https://www.readbyqxmd.com/read/27965262/the-united-kingdom-diabetic-retinopathy-electronic-medical-record-users-group-report-1-baseline-characteristics-and-visual-acuity-outcomes-in-eyes-treated-with-intravitreal-injections-of-ranibizumab-for-diabetic-macular-oedema
#18
Catherine Egan, Haogang Zhu, Aaron Lee, Dawn Sim, Danny Mitry, Clare Bailey, Robert Johnston, Usha Chakravarthy, Alastair Denniston, Adnan Tufail, Rehna Khan, Sajjad Mahmood, Geeta Menon, Toks Akerele, Louise Downey, Martin McKibbin, Atul Varma, Aires Lobo, Elizabeth Wilkinson, Alan Fitt, Christopher Brand, Marie Tsaloumas, Kaveri Mandal, Vineeth Kumar, Salim Natha, David Crabb
AIMS: To describe baseline characteristics and visual outcome for eyes treated with ranibizumab for diabetic macular oedema (DMO) from a multicentre database. METHODS: Structured clinical data were anonymised and extracted from an electronic medical record from 19 participating UK centres: age at first injection, ETDRS visual acuity (VA), number of injections, ETDRS diabetic retinopathy (DR) and maculopathy grade at baseline and visits. The main outcomes were change in mean VA from baseline, number of injections and clinic visits and characteristics affecting VA change and DR grade...
January 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27958206/pearl-necklace-sign-in-diabetic-macular-edema-evaluation-and-significance
#19
Kshirasagar Ajay, Fiona Mason, Bipin Gonglore, Ajay Bhatnagar
PURPOSE: (1) The purpose of this study was to describe significance and prevalence of the newly reported pearl necklace spectral domain optical coherence tomography (SDOCT) sign, in diabetic macular edema (DMO), (2) to track the course of this sign over a period of at least 10 months. MATERIALS AND METHODS: The pearl necklace SDOCT sign refers to hyperreflective dots in a contiguous ring around the inner wall of cystoid spaces in the retina, recently described for the first time in 21 eyes with chronic exudative maculopathy...
November 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27942234/long-term-follow-up-of-anatomical-and-functional-macular-changes-after-a-single-intravitreal-implant-of-dexamethasone-0-7-mg-for-radiation-macular-edema-secondary-to-proton-beam-therapy-for-choroidal-melanoma
#20
Francesco Stringa, Federico Marzi, Laura Giannì, Manuela Imparato, Alessandro Bianchi, Paolo Emilio Bianchi
PURPOSE: To describe the efficacy and safety of a single intravitreal implant of dexamethasone in a patient affected by radiation maculopathy due to proton beam radiotherapy for choroidal melanoma. PATIENT AND METHODS: Retrospective data of a 46-year-old woman treated with a single intravitreal injection of dexamethasone for radiation maculopathy due to proton beam radiotherapy were collected. The main outcome measures were best-corrected visual acuity and central retinal thickness...
2016: International Medical Case Reports Journal
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