Torpedo Maculopathy Associated with Refractile Drusen and Dry Age-Related Macular Degeneration
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Masqueraders of Age-Related Macular Degeneration
COVER STORY Masqueraders of Age-related Macular Degeneration A number of inherited retinal diseases phenocopy AMD. BY RONY GELMAN, MD, MS; AND STEPHEN H. TSANG, MD, PHD ge-related macular degeneration (AMD) is a leading cause of central visual loss among the elderly population in the developed world. The Currently, there are no published A non-neovascular form is characterized by mac- guidelines to prognosticate ular drusen and other abnormalities of the retinal pigment epithelium (RPE) such as geographic atrophy (GA) and Stargardt macular degeneration. hyperpigmented areas in the macula. The neovascular form is heralded by choroidal neovascularization (CNV), with subsequent development of disciform scarring. ABCA4 defect heterozygote carrier may be as high as This article reviews the pathologic and diagnostic char- one in 20.11,12 An estimated 600 disease-causing muta- acteristics of inherited diseases that may masquerade as tions in the ABCA4 gene exist, of which the three most AMD. The review is organized by the following patterns common mutations account for less than 10% of the of inheritance: autosomal recessive (Stargardt disease and disease phenotypes.13 cone dystrophy); autosomal dominant (cone dystrophy, The underlying pathology of disease in STGD involves adult vitelliform dystrophy, pattern dystrophy, North accumulation of lipofuscin in the RPE through a process Carolina macular dystrophy, Doyne honeycomb dystro- of disc shedding and phagocytosis.14,15 Lipofuscin is toxic phy, and Sorsby macular dystrophy); X-linked (X-linked to the RPE; furthermore, A2E, a component of lipofuscin, retinoschisis); and mitochondrial (maternally inherited causes inhibition of 11-cis retinal regeneration16 and diabetes and deafness). complement activation. -
ATLAS of OCT Retinal Anatomy in Health & Pathology by Neal A
ATLAS OF OCT Retinal Anatomy in Health & Pathology by Neal A. Adams, MD Provided to you by: Atlas of OCT The OCT Atlas is written by Neal A. Adams, MD, and produced by Heidelberg Engineering, Inc. to help educate SPECTRALIS® users in the interpretation of SPECTRALIS OCT images in various disease states. The atlas is not intended as a diagnostic guide and is not a substitute for clinical experience and judgment. When diagnosing and treating patients, each clinician must analyze and interpret all available data and make individual clinical decisions based on his or her clinical judgment and experience. Table of Contents The Normal Retina ............................................................................................................................ 1 Posterior Vitreous Detachments ................................................................................................... 6 Vitreomacular Traction .................................................................................................................... 8 Epiretinal Membrane ....................................................................................................................... 11 Lamellar Macular Hole ..................................................................................................................... 14 Full Thickness Macular Hole ........................................................................................................... 16 Cystoid Macular Edema .................................................................................................................. -
Lipid Landscape of the Human Retina and Supporting Tissues Revealed by High Resolution Imaging Mass Spectrometry David M.G
bioRxiv preprint doi: https://doi.org/10.1101/2020.04.08.029538; this version posted April 9, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Lipid Landscape of the Human Retina and Supporting Tissues Revealed by High Resolution Imaging Mass Spectrometry David M.G. Anderson1, Jeffrey D. Messinger2, Nathan H. Patterson1, Emilio S. Rivera1, Ankita Kotnala1,2, Jeffrey M. Spraggins1, Richard M. Caprioli1, Christine A. Curcio2, and Kevin L. Schey1 1Department of Biochemistry and Mass Spectrometry Research Center, Vanderbilt University, Nashville, TN 2Department of Ophthalmology and Visual Science, University of Alabama at Birmingham, Birmingham, AL Corresponding Author: Kevin L. Schey Mass Spectrometry Research Center PMB 407916 Nashville, TN 37240-7916 Phone: 615-936-6861 Email: [email protected] 1 bioRxiv preprint doi: https://doi.org/10.1101/2020.04.08.029538; this version posted April 9, 2020. The copyright holder for this preprint (which was not certified by peer review) is the author/funder. All rights reserved. No reuse allowed without permission. Abstract: The human retina evolved to facilitate complex visual tasks. It supports vision at light levels ranging from starlight to sunlight, and its supporting tissues and vasculature regulate plasma-delivered lipophilic essentials for vision, including retinoids (vitamin A derivatives). The human retina is of particular interest because of its unique anatomic specializations for high-acuity and color vision that are also vulnerable to prevalent blinding diseases. The retina’s exquisite cellular architecture is composed of numerous cell types that are aligned horizontally, giving rise to structurally distinct cell, synaptic, and vascular layers that are visible in histology and in diagnostic clinical imaging. -
Mcardle Disease Associated Maculopathy and the Role of Glycogen in the Retina
Marques JH and Beirão JM, J Ophthalmic Clin Res 2020, 7: 067 DOI: 10.24966/OCR-8887/100067 HSOA Journal of Ophthalmology & Clinical Research Case Report demanding tissues like the RPE depend on glycogen phosphoryla- McArdle Disease associated tion to produce energy and, on the other hand, glycogen erroneous accumulation may impair cellular functions. Probably due to higher Maculopathy and the Role of photoreceptor concentration and subsequent energy demand in the macula, this is the primary site for degeneration in our patient. The Glycogen in the Retina present report reinforces the role of the glycogen pathway as a pos- sible player in the pathophysiology of RPE pathologies, genetically and/or environmentally determined. Keywords: Age-related macular degeneration; Geographic atrophy; João Heitor Marques1* and João Melo Beirão1,2 Glycogen; McArdle; Retinal pigmented epithelium 1Serviço de Oftalmologia, Centro Hospitalar e Universitário do Porto, Portugal Introduction 2Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Portugal Intracellular glycogen works as a buffer for glucose metabolism. Glycogen phosphorylase breaks down glycogen, making glucose available for aerobic and anaerobic energetic pathways. It can be rapidly metabolized without ATP requirement. A deficit in glycogen phosphorylation results, not only in energy shortage, but also in its Abstract intracellular accumulation, which may further interfere with other Purpose: To report a case of maculopathy with pattern dystrophy cellular functions. and geographic atrophy in a patient with McArdle disease and to review the glycogen pathway’s disorders as a source of energy but Glycogen Storage Disease type V (GSDV), also known as McAr- also cause of disease in the retina. -
Auto-Grading OCT Images Diagnostic Tool for Retinal Disease Classification
Marquette University e-Publications@Marquette Dissertations, Theses, and Professional Master's Theses (2009 -) Projects Auto-Grading OCT Images Diagnostic Tool for Retinal Disease Classification Shiyu Tian Marquette University Follow this and additional works at: https://epublications.marquette.edu/theses_open Part of the Computer Sciences Commons Recommended Citation Tian, Shiyu, "Auto-Grading OCT Images Diagnostic Tool for Retinal Disease Classification" (2021). Master's Theses (2009 -). 642. https://epublications.marquette.edu/theses_open/642 AUTO-GRADING OCT IMAGES DIAGNOSTIC TOOL FOR RETINAL DISEASE CLASSIFICATION by Shiyu Tian A Thesis submitted to the Faculty of the Graduate School, Marquette University, in Partial Fulfillment of the Requirements for the Degree of Master of Science Milwaukee, Wisconsin May 2021 ABSTRACT AUTO-GRADING OCT IMAGES DIAGNOSTIC TOOL FOR RETINAL DISEASE CLASSIFICATION Shiyu Tian Marquette University, 2021 Retinal eye disease is the most common reason for visual deterioration. Long- term management and follow-up are critical to detect the changes in symptoms. Optical Coherence Tomography (OCT) is a non-invasive diagnostic tool for diagnosing and managing various retinal eye diseases. With the increasing desire for OCT image, the clinicians are suffered from the burden of time on diagnoses and treatment. This thesis proposes an auto-grading diagnostic tool to divide the OCT image for retinal disease classification. In the tool, the classification model implements convolutional neural networks (CNNs), and the model training is based on denoised OCT images. The tool can detect the uploaded OCT image and automatically generate a result of classification in the categories of Choroidal neovascularization (CNV), Diabetic macular edema (DME), Multiple drusen, and Normal. -
Early Drusen Formation in the Normal and Aging Eye and Their Relation to Age Related Maculopathy: a Clinicopathological Study
358 Br J Ophthalmol 1999;83:358–368 ORIGINAL ARTICLES—Laboratory science Early drusen formation in the normal and aging eye and their relation to age related maculopathy: a clinicopathological study S H Sarks, J J Arnold, M C Killingsworth, J P Sarks Abstract development of age related maculopathy Aim—To describe the early formation of (ARM). The prevalence of drusen in the drusen and their relation to normal aging normal aging population has been addressed by changes at the macula and to the develop- several large population based surveys using ment of age related maculopathy (ARM). graded fundus photography, notably the Chesa- 1 2 Method—Histopathological features of peake Bay and Beaver Dam studies in the 353 eyes without histological evidence of United States, the Rotterdam study, 3 and the ARM are described and correlated with Blue Mountains study, Australia.4 All reported the clinical appearance. In addition, 45 of that one or more drusen were found in these eyes were examined by transmission 95.5–98.8% of the population, with small hard electron microscopy. drusen less than 63 µm being the most frequent Results—Drusen were detected histo- type in all age groups. While the prevalence of pathologically in 177 (50%) eyes but were drusen larger than 63 µm and soft drusen seen clinically in only 34% of these. Drusen increases with age, the prevalence of small hard were mainly small hard drusen with an drusen is not related to age or sex. However, occasional soft distinct drusen: no soft drusen of similar appearance may also be found indistinct drusen were seen. -
Clinical Study on Hypotony Following Blunt Ocular Trauma
陨灶贼允韵责澡贼澡葬造皂燥造熏灾燥造援 5熏晕燥援 6熏 Dec.18, 圆园12 www.IJO.cn 栽藻造押8629原愿圆圆源缘员苑圆 8629-83085628 耘皂葬蚤造押ijopress岳员远猿援糟燥皂 窑Monograph窑 ClinicalstudyonHypotonyfollowingbluntocular trauma DepartmentofOphthalmology, theSecondXiangya INTRODUCTION HospitalofCentralSouthUniversityandInstitutionof ypotonyfollowingbluntoculartraumaisasevere OphthalmicCenter,Changsha410011,HunanProvince, H complicationwhoseexactpathogenesisisnotclear. China Ocular hypotension canbeassociatedwithseveral Correspondenceto: JunZeng.DepartmentofOphthalmo- complications suchasmacularedema,discedema, logy,theSecondXiangyaHospitalof CentralSouth hypotonymaculopathy,cornealedema,shallowanterior UniversityandInstitutionofOphthalmicCenter,139# chamber,choroidaleffusionorhemorrhage,exudative RenminMiddleRoad,Changsha410011,HunanProvince, retinaldetachment,orcataractformation,ultimatelyleading [email protected] tophthisisbulbi [1-3].Anyofthesecomplicationscanbe Received:2012-04-15 Accepted:2012-11-01 associatedwithvisualsymptomsorareductioninvisual acuity.Thereisrelativelylessdataontheriskfactorsfor Abstract hypotonyafterbluntoculartrauma.Sothisarticlebriefly · AIM:Toevaluatetheincidenceandriskfactorsof discussestheriskfactorsofhypotonyfollowingbluntocular hypotonyinpatientswithbluntoculartrauma. trauma. MATERIALSANDMETHODS ·METHODS:Themedicalrecordsof145patientswithblunt StudyDesign Thiswasaretrospectivestudyofpatients oculartraumawerereviewed.Hypotonywasdefinedasan seenintheophthalmologydepartmentattheSecond averageintraocularpressure(IOP)of5mmHgorlessfor threetimes. XiangyaHospital'semergencyserviceovertwoandahalf -
Interactions Between Apolipoprotein E Metabolism and Retinal Inflammation in Age-Related Macular Degeneration
life Review Interactions between Apolipoprotein E Metabolism and Retinal Inflammation in Age-Related Macular Degeneration Monica L. Hu 1 , Joel Quinn 2 and Kanmin Xue 2,3,* 1 Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, VIC 3002, Australia; [email protected] 2 Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; [email protected] 3 Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK * Correspondence: [email protected] Abstract: Age-related macular degeneration (AMD) is a multifactorial retinal disorder that is a major global cause of severe visual impairment. The development of an effective therapy to treat geographic atrophy, the predominant form of AMD, remains elusive due to the incomplete understanding of its pathogenesis. Central to AMD diagnosis and pathology are the hallmark lipid and proteinaceous deposits, drusen and reticular pseudodrusen, that accumulate in the subretinal pigment epithelium and subretinal spaces, respectively. Age-related changes and environmental stressors, such as smoking and a high-fat diet, are believed to interact with the many genetic risk variants that have been identified in several major biochemical pathways, including lipoprotein metabolism and the complement system. The APOE gene, encoding apolipoprotein E (APOE), is a major genetic risk factor for AMD, with the APOE2 allele conferring increased risk and APOE4 conferring reduced risk, in comparison to the wildtype APOE3. Paradoxically, APOE4 is the main genetic risk factor in Citation: Hu, M.L.; Quinn, J.; Xue, K. Alzheimer’s disease, a disease with features of neuroinflammation and amyloid-beta deposition in Interactions between Apolipoprotein common with AMD. -
A Clinical Study of Prevalence of Dry Eyes in Diabetes and Diabetic Retinopathy
International Journal of General Medicine and Pharmacy (IJGMP) ISSN(P): 2319-3999; ISSN(E): 2319-4006 Vol. 3, Issue 2, Mar 2014, 31-36 © IASET A CLINICAL STUDY OF PREVALENCE OF DRY EYES IN DIABETES AND DIABETIC RETINOPATHY MURTUZA JHABUAWALA1 & A. P. AGASHE2 1Fellow in Phacoemulsifation and Refractive Surgery, Narayan Nethralaya, Bangalore, Karnataka, India 2Professor, MGM Medical College & Hospital, Navi Mumbai, Maharashtra, India ABSTRACT Introduction: Diabetes mellitus is associated with a number of ocular complications which can even lead to blindness. Recently, problems involving the ocular surface, dryness in particular, have been reported in diabetic patients. These patients suffer from a variety of corneal complications, including superficial punctate keratopathy, corneal ulceration, and persistent epithelial defects. In addition, many diabetic patients complain of typical dry eye symptoms, such as burning and/or foreign body sensation, indicating a clear role of tear film abnormalities. Materials and Methods: A cross sectional study was conducted on 100 diabetic patients who came to the department of Ophthalmology, MGM Hospital, Mumbai. These patients were examined to study the prevalence of dry eyes in patients with diabetes and diabetic retinopathy. Results: The prevalence of dry eyes in diabetics was 14% with significant association with male gender. The prevalence of Retinopathy among diabetes patients was 18%. Around 55% patients of retinopathy patients suffer from dry eyes, the association was found to be statistically significant. -
R·Fermces Pres�Ure, Which Fluctuated Between 40 and 00 Mrnhg
Sir, Primary surgical management in a case of subtotal iridodialysis Iridodialysis is the separation of the iris bast' from the ciliary body and the scleral spm. The iris root is the thinnest and weakest part of iris anatomy, making it 1 \'Ulnerable to ocular trauma. \\'(, desnibe a case where traumatic iridodialysis was sustaim'd resulting in secondary glaucoma. Surgical interwntion invoh'ing an anterior chamber washout and removal of necrotic iris brought about control of the intraocular pressure. Case' rt?l'Mt A 66-year-old man susteHned blw)t trauma to his right eye whilst repairing his garage door. Visual al"uity in this eye WclS hand movements. On slit-lamp examinati('O an iridodialy!'is of 3300 W,)S pr('sC'nt, as was a microscopic hyphaema (Fig. 1). There was a vitreous haemorrhage, with no fundal view. The lens was subluxed postt'riorly and cataractous. ThE-' iris appeared to be ne':l'lltic 111ere Fig. I, C(l/ollr l'ilvt"grtll'iI <holL'l1IS �lIbt(}tal md(}dillly�is. was zonular d('hi�cenct' exCt'pt inferiorly \'Ilhen' the iris 4 :; was stll! attached. The intraocular pressure was 40 taUooing. , In cast's wht're a cataract has developed and e oc mmHg. An ultrasound scan showed a f1clt rC'tinel. '1 he thE.' l ns zonule is stablC', rrostC'd intra ular ll'nses have patient was treated with topical steroids emd beta been implanted v.ath �uccess." blockers, togl'ther with systemic aceta/.olamidl' emd mannitol. None of this served to rt'duce the intraocular R·fermces pres�ure, which fluctuated between 40 and 00 mrnHg. -
Two Cases of Torpedo Maculopathy with OCT Scans, One Demonstrating a Unique Deep Pit with Visible Bare Sclera
Two Cases of Torpedo Maculopathy with OCT scans, one demonstrating a unique deep pit with visible bare sclera. Isadora Ritter, OD; Sarah Brehm, OD; Susan S. Schuettenberg, OD, FAAO Abstract: This case discussion presents two cases of torpedo maculopathy not previously diagnosed. One patient displays significant tissue disruption overlying the lesion, indicating possibility of full-thickness loss to neurosensory retina accompanying this rare retinal pathology. Case Report: A 27 year old white male visited the University Eye Care clinic complaining of longstanding blur in his right eye at both distance and near. He had a history of longstanding poor vision OD for “as long as he could remember,” and had been diagnosed with amblyopia as a child. He had been patched OD at the age of 5 for a period of about one year, although he noticed no change in vision after patching. He had no history of ocular surgery and no history of ocular trauma, although after questioning he mentioned a car accident in childhood. He could not recall any injury to eye, orbit or adnexa during the accident or at any other time. Family history was significant only for glaucoma (late onset, via his maternal grandmother). He suffered from occasional outbreaks of facial acne for which he was taking oral amoxicillin. Best corrected visual acuities were: OD 20/50+2 , OS 20/20. Extraocular motilities were full, pupils were equal, round, and reactive to light with no APD, and confrontation visual fields were full to finger counting in both right and left eyes. Cover tests revealed no tropia at distance or near (near cover test revealed mild exophoria). -
Methylmalonic Aciduria and Homocystinuria-Associated Are Similar As Well
Correspondence 1731 exists about its metabolism and effects on development.3 Case report Given the rarity of its use in children, performing a A 2-year-old boy was reported to develop nystagmus at 5 randomised control trial is unrealistic, but an alternative months of age. He was born without complication at 40 method would be to establish a central database that weeks gestation and weighed 6 pounds 11 ounces at allows clinicians who use anti-vascular endothelial birth. At the age of 1 month, he was evaluated for failure growth factor therapy in children to report results and to thrive and found to have elevated urine levels of complications. methylmalonic acid and homocysteine, and was diagnosed with methylmalonic aciduria and Conflict of interest homocystinuria. He has since received regular The authors declare no conflict of interest. intramuscular injections of hydroxycobalamin and betaine, and been maintained on a special diet. Ophthalmic examination revealed the ability to fix and follow objects, and the presence of horizontal References jerk nystagmus. Fundoscopic examination showed well-circumscribed, round, and relatively flat yellow 1 Brown DM, Kaiser PK, Michels M, Soubrane G, Heier JS, lesions in both maculae, which were vitelliform in Kim RY et al. Ranibizumab versus verteporfin for neovascular appearance. The lesion in the right eye appeared to be age-related macular degeneration. N Engl J Med 2006; 355: larger than the one in the left eye, which was ring-like, 1432–1444. suggesting an early stage of development (Figure 1). 2 Rosenfeld PJ, Brown DM, Heier JS, Boyer DS, Kaiser PK, Fluorescein angiography was performed under Chung CY et al.