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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. -
Cytomegalovirus Retinitis: a Manifestation of the Acquired Immune Deficiency Syndrome (AIDS)*
Br J Ophthalmol: first published as 10.1136/bjo.67.6.372 on 1 June 1983. Downloaded from British Journal ofOphthalmology, 1983, 67, 372-380 Cytomegalovirus retinitis: a manifestation of the acquired immune deficiency syndrome (AIDS)* ALAN H. FRIEDMAN,' JUAN ORELLANA,'2 WILLIAM R. FREEMAN,3 MAURICE H. LUNTZ,2 MICHAEL B. STARR,3 MICHAEL L. TAPPER,4 ILYA SPIGLAND,s HEIDRUN ROTTERDAM,' RICARDO MESA TEJADA,8 SUSAN BRAUNHUT,8 DONNA MILDVAN,6 AND USHA MATHUR6 From the 2Departments ofOphthalmology and 6Medicine (Infectious Disease), Beth Israel Medical Center; 3Ophthalmology, "Medicine (Infectious Disease), and 'Pathology, Lenox Hill Hospital; 'Ophthalmology, Mount Sinai School ofMedicine; 'Division of Virology, Montefiore Hospital and Medical Center; and the 8Institute for Cancer Research, Columbia University College ofPhysicians and Surgeons, New York, USA SUMMARY Two homosexual males with the 'gay bowel syndrome' experienced an acute unilateral loss of vision. Both patients had white intraretinal lesions, which became confluent. One of the cases had a depressed cell-mediated immunity; both patients ultimately died after a prolonged illness. In one patient cytomegalovirus was cultured from a vitreous biopsy. Autopsy revealed disseminated cytomegalovirus in both patients. Widespread retinal necrosis was evident, with typical nuclear and cytoplasmic inclusions of cytomegalovirus. Electron microscopy showed herpes virus, while immunoperoxidase techniques showed cytomegalovirus. The altered cell-mediated response present in homosexual patients may be responsible for the clinical syndromes of Kaposi's sarcoma and opportunistic infection by Pneumocystis carinii, herpes simplex, or cytomegalovirus. http://bjo.bmj.com/ Retinal involvement in adult cytomegalic inclusion manifestations of the syndrome include the 'gay disease (CID) is usually associated with the con- bowel syndrome9 and Kaposi's sarcoma. -
Pattern of Vitreo-Retinal Diseases at the National Referral Hospital in Bhutan: a Retrospective, Hospital-Based Study Bhim B
Rai et al. BMC Ophthalmology (2020) 20:51 https://doi.org/10.1186/s12886-020-01335-x RESEARCH ARTICLE Open Access Pattern of vitreo-retinal diseases at the national referral hospital in Bhutan: a retrospective, hospital-based study Bhim B. Rai1,2* , Michael G. Morley3, Paul S. Bernstein4 and Ted Maddess1 Abstract Background: Knowing the pattern and presentation of the diseases is critical for management strategies. To inform eye-care policy we quantified the pattern of vitreo-retinal (VR) diseases presenting at the national referral hospital in Bhutan. Methods: We reviewed all new patients over three years from the retinal clinic of the Jigme Dorji Wangchuck National Referral Hospital. Demographic data, presenting complaints and duration, treatment history, associated systemic diseases, diagnostic procedures performed, and final diagnoses were quantified. Comparisons of the expected and observed frequency of gender used Chi-squared tests. We applied a sampling with replacement based bootstrap analysis (10,000 cycles) to estimate the population means and the standard errors of the means and standard error of the 10th, 25th, 50th, 75th and 90th percentiles of the ages of the males and females within 20-year cohorts. We then applied t-tests employing the estimated means and standard errors. The 2913 subjects insured that the bootstrap estimates were statistically conservative. Results: The 2913 new cases were aged 47.2 ± 21.8 years. 1544 (53.0%) were males. Housewives (953, 32.7%) and farmers (648, 22.2%) were the commonest occupations. Poor vision (41.9%), screening for diabetic and hypertensive retinopathy (13.1%), referral (9.7%), sudden vision loss (9.3%), and trauma (8.0%) were the commonest presenting symptoms. -
Genetic Defects of CHM and Visual Acuity Outcome in 24 Choroideremia
www.nature.com/scientificreports OPEN Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families Takaaki Hayashi1,2*, Shuhei Kameya3, Kei Mizobuchi2, Daiki Kubota3, Sachiko Kikuchi3, Kazutoshi Yoshitake4, Atsushi Mizota5, Akira Murakami6, Takeshi Iwata4 & Tadashi Nakano2 Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outcomes in 24 CHM patients from 16 Japanese families. We measured decimal best-corrected visual acuity (BCVA) at presentation and follow-up, converted to logMAR units for statistical analysis. Sanger and/or whole-exome sequencing were performed to identify pathogenic CHM variants/deletions. The median age at presentation was 37.0 years (range, 5–76 years). The mean follow-up interval was 8.2 years. BCVA of the better-seeing eye at presentation was signifcantly worsened with increasing age (r = 0.515, p < 0.01), with a high rate of BCVA decline in patients > 40 years old. A Kaplan–Meier survival curve suggested that a BCVA of Snellen equivalent 20/40 at follow-up remains until the ffties. Fourteen pathogenic variants, 6 of which were novel [c.49 + 5G > A, c.116 + 5G > A, p.(Gly176Glu, Glu177Ter), p.Tyr531Ter, an exon 2 deletion, and a 5.0-Mb deletion], were identifed in 15 families. No variant was found in one family only. Our BCVA outcome data are useful for predicting visual prognosis and determining the timing of intervention in Japanese patients with CHM variants. -
Retinitis Pigmentosa Precision Panel Overview Indications Clinical
Retinitis Pigmentosa Precision Panel Overview Retinitis Pigmentosa (RP) comprises a complex group of inherited dystrophies characterized by degeneration and dysfunction of the retina, affecting photoreceptor and pigment epithelial function. RP can be an isolated finding or be part of a syndrome that can be inherited in a dominant, recessive or X-linked pattern. This disease presents as progressive loss of night and peripheral vision, leading to a constricted visual field and markedly diminished vision. The clinical presentation of these findings is highly variable, some patients being affected during childhood while others are asymptomatic well into adulthood. There is an increase in mortality rate due to psychiatric comorbidities. The Igenomix Retinitis Pigmentosa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of blindness ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. Indications The Igenomix Retinitis Pigmentosa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: - Family history of RP - Night blindness - Progressive constriction of the visual field, usually peripheral - Cataracts - Sensation of sparking lights (photopsias) - Headache Clinical Utility The clinical utility of this panel is: - The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. - Early initiation of multidisciplinary treatment in the form of medical care with vitamin A and other antioxidants and surgical care for potential cataract extraction or retinal prosthesis. -
Frequency of Common Factors Leading to Leukocoria in Pediatric Age Group at Tertiary Care Eye Hospital: an Observational Study
Biostatistics and Biometrics Open Access Journal ISSN: 2573-2633 Research Article Biostat Biometrics Open Acc J Faisal’s Issue - January 2018 Copyright © All rights are reserved by Muhammad Faisal Fahim DOI: 10.19080/BBOAJ.2018.04.555636 Frequency of Common Factors Leading to Leukocoria in Pediatric Age Group at Tertiary Care Eye Hospital: An Observational Study Rizwana Dargahi1, Abdul Haleem1, Darikta Dargahi S1 and Muhammad Faisal Fahim2* 1Department of Ophthalmology, Shaheed Mohtarma Benazir Bhutto Medical University, Pakistan 2Department of Research & Development, Al-Ibrahim Eye Hospital, Pakistan Submission: November 27, 2017; Published: January 19, 2018 *Corresponding author: Muhammad Faisal Fahim, M.Sc. (Statistics), Statistician, Department of Research & Development, Al-Ibrahim Eye Hospital, Isra postgraduate Institute of Ophthalmology, Karachi, Pakistan, Tel: ; Email: Abstract Objective: To know the frequency of common factors leading to leukocoria in pediatric age group at a tertiary care eye hospital. Materials & methods: This was across sectional observational study carried out at Pediatric department, Al-Ibrahim eye hospital Karachi from February to July 2016. All patients younger than 10 years who presented with leukocoria were included. The excluding criteria were previous history of trauma and ocular surgery. Systemic as well as ocular examination and relevant investigations was done to know cause of was used to analyzed data. leukocoria. B. Scan was done in all the cases. If needed X-ray chest, CT scan & MRI orbit was done for confirming diagnosis. SPSS version 20.0 Results: In our country congenital cataract is the most common cause of leukocoria which comprises about 77.3% (133/172) which is treatable. 2nd common cause was persistent fetal vasculature comprises 8.1% (14/172). -
Strabismus, Amblyopia & Leukocoria
Strabismus, Amblyopia & Leukocoria [ Color index: Important | Notes: F1, F2 | Extra ] EDITING FILE Objectives: ➢ Not given. Done by: Jwaher Alharbi, Farrah Mendoza. Revised by: Rawan Aldhuwayhi Resources: Slides + Notes + 434 team. NOTE: F1& F2 doctors are different, the doctor who gave F2 said she is in the exam committee so focus on her notes Amblyopia ● Definition Decrease in visual acuity of one eye without the presence of an organic cause that explains that decrease in visual acuity. He never complaints of anything and his family never noticed any abnormalities ● Incidence The most common cause of visual loss under 20 years of life (2-4% of the general population) ● How? Cortical ignorance of one eye. This will end up having a lazy eye ● binocular vision It is achieved by the use of the two eyes together so that separate and slightly dissimilar images arising in each eye are appreciated as a single image by the process of fusion. It’s importance 1. Stereopsis 2. Larger field If there is no coordination between the two eyes the person will have double vision and confusion so as a compensatory mechanism for double vision the brain will cause suppression. The visual pathway is a plastic system that continues to develop during childhood until around 6-9 years of age. During this time, the wiring between the retina and visual cortex is still developing. Any visual problem during this critical period, such as a refractive error or strabismus can mess up this developmental wiring, resulting in permanent visual loss that can't be fixed by any corrective means when they are older Why fusion may fail ? 1. -
Retinitis Pigmentosa: a Brief Review of the Genetic and Clinical Aspects
Retinitis Pigmentosa: A Brief Review of the Genetic and Clinical Aspects of the Disease Itia Dowdell Science and Technology Honors Program, University of Alabama at Birmingham, Birmingham, AL, USA School of Health Professions Honors Program, University of Alabama at Birmingham, Birmingham, AL, USA Department of Clinical and Diagnostic Sciences, University of Alabama at Birmingham, Birmingham, AL, USA Abstract Retinitis Pigmentosa (RP) is a heterogeneous set of inherited retinal diseases that affects 1 in 3,000–7,000 people worldwide. Typical onset is from 10–30 years old and most forms are progressive, often leading to blindness. Defects in more than 200 genes have been identified that cause RP. The disease is characterized as a progressive rod-cone dystrophy that presents with night blindness, loss of peripheral vision, waxy pallor of the optic disc, pigmentary changes, and a reduced visual field. There are different modes of transmission of RP: autosomal dominant (ADRP), autosomal recessive (arRP), X-linked (XLRP) and mitochondrial. The genetics behind the different forms of RP and the degree of severity vary, although some overlap, thus contributing to the difficulty of differential diagnosis. RP can manifest either as a non-syndromic disease, or as part of a syndrome, such as in Usher’s syndrome (hearing and vision loss) and BardetBiedl syndrome (a ciliopathy). The purpose of this review is to summarize the major genetic and molecular findings, as well as the diseases, associated with RP. Due to space limitations, this review is not fully comprehensive. Keywords: Retinitis pigmentosa, non-syndromic retinitis pigmentosa, rod-cone dystrophy, rhodopsin Introduction Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinal diseases. -
Retinitis Pigmentosa and Allied Disorders Yog Raj Sharma, P
JK SCIENCE REVIEW ARTICLE Retinitis Pigmentosa and Allied Disorders Yog Raj Sharma, P. Raja Rami Reddy, Deependra V. Singh Retinitis pigmentosa (RP) is a generic term for a group Visual field loss is insidious, progressive, peripheral of disorders characterized by hereditary diffuse usually and symmetric between two eyes (except x-linked RP bilaterally symmetrical progressive dysfunction, cell loss which can have bizarre and asymmetric patterns). In the and eventual atrophy of retina. Initially photoreceptors majority of patients the earliest defects are relative are involved and subsequently inner retina is damaged. scotomas in the periphery between 30 and 50 degrees Although both rods and cones are involved, damage to from fixation, which enlarge, deepen and coalesce to the rods is predominant. RP may be seen in isolation form a ring of visual field loss. As ring scotomas enlarge (Typical RP) or in association with systemic diseases. toward the far periphery, islands of relatively normal The reported prevalence of typical RP is approximately vision remain usually temporal but occasionally 1: 50000 worldwide. Most commonly 46% of the cases inferiorly. In typical RP the progression of visual loss is are sporadic with only one affected member in a given slow and relentless. Berson et al found that overall about family. X- linked recessive inheritance is least common, 4.6% of remaining visual field was lost per year (3). amounting to 8%. Autosomal dominant inheritance is Central visual loss found in 19% and recessive in 19%. The age of onset This can occur early in typical RP while significant and the natural history of the disease depend on the peripheral field remains cystoid macular edema, macular inheritance. -
Stargardt Disease
Stargardt disease Author: Professor August. F. Deutman1 Creation Date: January 2003 Scientific Editor: Professor Jean-Jacques De Laey 1Institute of Ophthalmology, University Hospital Nijmegen, Postbox 9101, 6500 HB Nijmegen, Netherlands. Abstract Keywords Disease name and synonyms Excluded diseases Definition Frequency Clinical description Management including treatment Etiology Diagnosis References Abstract Stargardt's disease is a form of juvenile hereditary macular degeneration characterized by discrete yellowish round or pisciform flecks around the macula at the level of the retinal pigment epithelium (rpe). Stargardt's disease is the most common hereditary macular dystrophy. Prevalence is estimated between 1 in 8,000 and 1 in 10,000. Disease onset occurs typically in the first or second decade of life and manifests as decreased visual acuity. In the early stages, the macula usually shows discrete rpe changes, followed later by an horizontal ovoid zone of beaten bronze atrophy. In final stages, the macula can be associated with central areolar choroidal dystrophy. Fluorescein angiography reveals the characteristic dark choroid (''silence choroidien''), which probably results from the accumulation of lipofuscin in the rpe. This disease has usually an autosomal recessive inheritance pattern but some dominant pedigrees have been reported. The autosomal type has been associated with mutations in the ABCR gene, which encodes a transmembrane transporter protein expressed by the rod outer segments. There is currently no treatment available for Stargardt's disease. Keywords Stargardt, Macula, Fundus flavimaculatus Disease name and synonyms Definition • Stargardt’s disease Stargardt’s disease (Stargardt, 1909, 1913, • Fundus flavimaculatus 1916, 1917, 1925; Weleber, 1994; Armstrong et al., 1998) is a form of juvenile hereditary macular Excluded diseases degeneration characterized by discrete yellowish • Cone dystrophy round or pisciform flecks around the macula at the level of the retinal pigment epithelium (rpe). -
Herpetic Viral Retinitis
American Journal of Virology 2 (1): 25-35, 2013 ISSN: 1949-0097 ©2013 Science Publication doi:10.3844/ajvsp.2013.25.35 Published Online 2 (1) 2013 (http://www.thescipub.com/ajv.toc) Herpetic Viral Retinitis Hidetaka Noma Department of Ophthalmology, Yachiyo Medical Center, Tokyo Women’s Medical University, Chiba, Japan Received 2012-05-30, Revised 2012-07-09; Accepted 2013-07-22 ABSTRACT Human Herpes Virus (HHV) is a DNA virus and is the most important viral pathogen causing intraocular inflammation. HHV is classified into types 1-8. Among these types, HHV-1, HHV-2, HHV-3 Varicella Zoster Virus (VZV) and HHV-5 Cytomegalovirus (CMV) are known to cause herpetic viral retinitis, including acute retinal necrosis and CMV retinitis. Herpes viral retinitis can be diagnosed from characteristic ocular findings and viral identification by PCR of the aqueous humor. Recently, therapy has become more effective than in the past. Herpes viral retinitis gradually progresses if appropriate treatment is not provided with regard to the patient’s immune status. Further advances in diagnostic methods and treatment are required in the future. Keywords: Human Herpes Virus (HHV), Varicella Zoster Virus (VZV), Acute Retinal Necrosis, Polymerase Chain Reaction (PCR), CMV Retinitis, Pathogen Causing Intraocular Inflammation 1. INTRODUCTION by Young and Bird (1978). In the 1980s, the etiology of the disease was shown to be infection by HSV and Human Herpes Virus (HHV) is a DNA virus and VSV. Widespread adoption of the Polymerase Chain the most important viral pathogen causing intraocular Reaction (PCR) method from early the 1990 made it inflammation. It is classified into types 1-8, among possible to easily detect the presence of intraocular which HHV-1, HHV-2, HHV-3 (Varicella Zoster viruses, after which many cases of ARN were Virus: VZV) and HHV-5 Cytomegalovirus (CMV) are diagnosed. -
Herpetic Corneal Infections
FocalPoints Clinical Modules for Ophthalmologists VOLUME XXVI, NUMBER 8 SEPTEMBER 2008 (MODULE 2 OF 3) Herpetic Corneal Infections Sonal S. Tuli, MD Reviewers and Contributing Editors Consultants George A. Stern, MD, Editor for Cornea & External Disease James Chodosh, MD, MPH Kristin M. Hammersmith, MD, Basic and Clinical Science Course Faculty, Section 8 Kirk R. Wilhelmus, MD, PhD Christie Morse, MD, Practicing Ophthalmologists Advisory Committee for Education Focal Points Editorial Review Board George A. Stern, MD, Missoula, MT Claiming CME Credit Editor in Chief, Cornea & External Disease Thomas L. Beardsley, MD, Asheville, NC Academy members: To claim Focal Points CME cred- Cataract its, visit the Academy web site and access CME Central (http://www.aao.org/education/cme) to view and print William S. Clifford, MD, Garden City, KS Glaucoma Surgery; Liaison for Practicing Ophthalmologists Advisory your Academy transcript and report CME credit you Committee for Education have earned. You can claim up to two AMA PRA Cate- gory 1 Credits™ per module. This will give you a maxi- Bradley S. Foster, MD, Springfield, MA Retina & Vitreous mum of 24 credits for the 2008 subscription year. CME credit may be claimed for up to three (3) years from Anil D. Patel, MD, Oklahoma City, OK date of issue. Non-Academy members: For assistance Neuro-Ophthalmology please send an e-mail to [email protected] or a Eric P. Purdy, MD, Fort Wayne, IN fax to (415) 561-8575. Oculoplastic, Lacrimal, & Orbital Surgery Steven I. Rosenfeld, MD, FACS, Delray Beach, FL Refractive Surgery, Optics & Refraction C. Gail Summers, MD, Minneapolis, MN Focal Points (ISSN 0891-8260) is published quarterly by the American Academy of Ophthalmology at 655 Beach St., San Francisco, CA 94109-1336.