DOCSLIB.ORG

Volume 5 Issue 4

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Volume 5 Issue 4 Volume 5 | Issue 4 Education and Research from Envision Stargardt Disease: The View From 2011 Janet S. Sunness, MD targardt disease is the most of this condition that begins later and unlike age-related macular Scommon cause of macular in life and tends to progress more degeneration, it is often difficult to degeneration and central visual loss slowly. determine just by looking at some- in young people. Stargardt disease one how much of a blind spot the often develops in the teens or twen- DIAGNOSING STARGARDT patient may have. The fluorescein ties, but may develop in younger DISEASE angiogram (when dye is injected into children (the youngest child I have Patients with Stargardt disease the arm and pictures of the retina seen is 5) or somewhat later in life. have findings that are different from are taken) often shows an unusual It affects both eyes at the same patients with age-related macular appearance called a “dark choroid,” time, though one may be somewhat degeneration, and some terminology meaning that the initial flush of dye worse than the other. In most people is worth knowing. Many patients with which goes through the blood vessel it affects only central vision (read- Stargardt disease have yellow flecks system beneath the retina cannot be ing, recognizing faces and other in their retina. In these patients, the seen. Some patients with Stargardt fine tasks), but in certain more rare disease is also known as fundus disease start out with a bullseye types, peripheral vision may be flavimaculatus (the retina with the appearance to the macula, in which affected as well. Vision loss tends yellow spots). The macula, the cen- there is a small island of spared to progress rapidly at first, but for ter of the retina, often has a shiny vision surrounded by a donut- many people it tends to stabilize at appearance, which is referred to shaped blind spot. In other patients, about 20/200. There is also a form as a “beaten bronze appearance,” or later in the course of the disease, 2 | Table of Contents Feature Article Stargardt Disease: The View From 2011 1 Janet S. Sunness, MD Continuing Education Utilizing Red Contact Lenses for Retinal 6 Dystrophies William Park, OD, FAAO Case Study Case Report: How the Amber-Red Contact 8 Lens Changed My Life Marica Harris, CLVT, St. Louis Veterans Medical Center Disease Etiology Cataracts: An Overview for the Low Vision 12 Professional Dasa V. Gangadhar, MD Professional Education Envision Conference 2011: Resounding 17 Success! Focus on Research Envision Conference Research Session 18 Highlights GUEST CONTRIBUTORS Janet S. Sunness, MD Marica Harris, CLVT William L. Park, MD Dasa V. Gangadhar, MD is a quarterly publication Visibility To submit an article or case study to be considered for publication in of the Envision Foundation. Visibility, please contact Michael Epp, Director of Professional Education, 610 N. Main, Wichita, KS 67203 at (316) 440-1515 or [email protected]. (316) 440-1600 The viewpoints expressed by the guest authors of Visibility do not necessarily reflect the viewpoints of Envision or its staff. www.envisionus.com Servicios bilingües disponibles: ABOUT ENVISION FOUNDATION (316) 440-1660 The mission of the Envision Foundation is to secure funding for the successful delivery of services offered by the Envision Vision Rehabilitation Center and EDITORAL STAFF the education programs of the Foundation. Envision Foundation focuses on Michael Epp, MS, Director of fundraising to ensure that no patient is ever turned away—regardless of ability Professional Education to pay; public education to help prevent blindness; and professional education to Kelsey Rawson, Professional determine best practices in order to serve patients who are blind or low vision. Education Associate REQUEST COPIES OF VISIBILITY Shannon Riley, MA, Research If you would like to share Visibility with a colleague, please request a copy from and Analytics Associate Michael Epp, Director of Professional Education, at michael.epp@envisionus. Kathi A. Buche, Graphic Design com or call (316) 440-1515. Visibility is also available online at www. Manager envisionus.com/Visibility. Copyright © 2011 Envision Foundation. Individual articles are Copyright © 2011 of the indicated authors, printed with permission. All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording or any information storage or retrieval system, without written permission of Envision Foundation. ENVISION Feature Article | 3 Stargardt Disease: The View From 2011 continued from front page there is a solid area of blind spot competitor. They have rewarding Some patients with Stargardt which does not spare the very personal and professional lives. disease are able to drive. Each state center. Improved low vision interventions in has different rules in terms of the mini- the future will help patients to adapt mum visual acuity required to get a DEALING WITH BLIND SPOTS even better to this condition. It is restricted license. Patients who meet IN THE CENTRAL VISION important to remember that a loss this vision requirement can work with It is critical for any patient with of vision is a real loss to the indi- special driving instructors who can blind spots in or near the center vidual, and some people may react instruct them and determine whether of vision to learn how to move the to this with anger and depression. they can drive safely. GPS systems are eye so that the object of interest While these are normal stages many probably the best device for drivers is imaged onto a seeing part of the retina. Most Stargardt patients do this quite well and tend to look slightly above what they want to see. This has the effect of moving the blind spot up and out of the way. The difficulty is that as one uses retina farther from the center of the macula, larger letters are needed in order to see; magnification, using a variety of low vision devices, can be very helpful. A diagnostic device called a microperimeter can allow us to plot out the exact location of the blind spot directly on a video image of the macula. This information helps us to advise patients on strategies for using the remaining seeing retina in the most effective way. Other spe- cialized imaging, using infrared and Many patients with Stargardt disease have yellow flecks in their retina known as autofluorescence imaging, allows us fundus flavimaculatus. to determine the stage and progres- sion of the condition more compre- patients go through, these emotions with somewhat reduced central hensively. may interfere with the person’s abil- vision. Patients can also learn how ity to adapt and see around the blind to use a bioptic telescope to read LIVING WITH STARGARDT spot. If there is difficulty in working street signs and traffic signals. DISEASE through these emotions, support Most patients whom I see with groups and counseling may be THE GENETICS OF STARGARDT Stargardt disease have adapted beneficial. Support groups are very DISEASE quite well; they lead busy and active helpful in general for understanding Stargardt disease is an inherited, lifestyles. Among these patients is a the symptoms of central visual loss or genetic, disease; that is, it is scientist, radio announcer, a social and for learning different ways of caused by a mutation of a gene. worker, and a tandem bike racing coping. Most patients I see with Stargardt Visibility | Vol. 5, Issue 4 4 | Feature Article are the only ones in their family to ported, it leads to an accumulation has serious complications such as have the condition, and they are of a material called lipofuscin that birth defects and psychiatric side ef- likely to have the autosomal reces- may be toxic to the retinal pigment fects) slowed down the accumulation sive form, meaning that both copies epithelium, the cells under the retina of the abnormal material. Research of the gene (one from the mother needed to sustain vision. The high is ongoing to find safe therapies that and one from the father) are abnor- levels of accumulation begin at birth; may help in this condition. mal. The children of these patients it is not clear what triggers the cells In the last few years, the first in all likelihood will be carriers of the to start degenerating. successful animal and human gene disease (have one abnormal gene) therapy trials have been conducted but will not be affected, assuming ADVANCES IN POTENTIAL for a severe retinal degeneration that the other parent is not a car- TREATMENTS FOR STARGARDT that begins at birth (Lebers Con- rier. Patients may have siblings who DISEASE genital Amaurosis, associated are affected, but their parents and The ABCA4 gene responsible for with an RPE65 mutation). Normal children are not likely to be affected. Stargardt disease was discovered in copies of the gene are attached to There is also a rarer autosomal 1997.1 A great deal of progress has virus vectors, which help to gain been made since entry of the genetic material into the that time. Scientists cells of the patient. This is injected have been able underneath the retina. Similar gene to develop mice therapy, using normal copies of the that are missing ABCA4 gene and a different virus the ABCA4 gene vector, has been successful in the (so-called knockout knockout mouse model. Since there mice). These mice is no naturally occurring Stargardt accumulate large disease known in animals, scientists amounts of lipofus- have used dogs that do not have a cin, as do people. mutation to test that the gene can A student with Stargardt disease uses a computer with But since mice enter the desired cell type.
Load more

Recommended publications
  • 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.
    [Show full text]
  • Bass – Glaucomatous-Type Field Loss Not Due to Glaucoma
    Glaucoma on the Brain! Glaucomatous-Type Yes, we see lots of glaucoma Field Loss Not Due to Not every field that looks like glaucoma is due to glaucoma! Glaucoma If you misdiagnose glaucoma, you could miss other sight-threatening and life-threatening Sherry J. Bass, OD, FAAO disorders SUNY College of Optometry New York, NY Types of Glaucomatous Visual Field Defects Paracentral Defects Nasal Step Defects Arcuate and Bjerrum Defects Altitudinal Defects Peripheral Field Constriction to Tunnel Fields 1 Visual Field Defects in Very Early Glaucoma Paracentral loss Early superior/inferior temporal RNFL and rim loss: short axons Arcuate defects above or below the papillomacular bundle Arcuate field loss in the nasal field close to fixation Superotemporal notch Visual Field Defects in Early Glaucoma Nasal step More widespread RNFL loss and rim loss in the inferior or superior temporal rim tissue : longer axons Loss stops abruptly at the horizontal raphae “Step” pattern 2 Visual Field Defects in Moderate Glaucoma Arcuate scotoma- Bjerrum scotoma Focal notches in the inferior and/or superior rim tissue that reach the edge of the disc Denser field defects Follow an arcuate pattern connected to the blind spot 3 Visual Field Defects in Advanced Glaucoma End-Stage Glaucoma Dense Altitudinal Loss Progressive loss of superior or inferior rim tissue Non-Glaucomatous Etiology of End-Stage Glaucoma Paracentral Field Loss Peripheral constriction Hereditary macular Loss of temporal rim tissue diseases Temporal “islands” Stargardt’s macular due
    [Show full text]
  • Stargardt's Hereditary Progressive Macular Degeneration
    Brit. 7. Ophthal. ( 1972) 56, 8I 7 Br J Ophthalmol: first published as 10.1136/bjo.56.11.817 on 1 November 1972. Downloaded from Stargardt's hereditary progressive macular degeneration A. RODMAN IRVINE AND FLOYD L. WERGELAND, JR From Ophthalmology Service, Letterman General Hospital, Presidio of San Francisco, California In a series of three papers, Stargardt ( 1909,I93, I9I6) described with precision and thoroughness a form of hereditary macular degeneration which has become known as Stargardt's disease. The purposes of the present paper are to review Stargardt's original observations, to argue that Stargardt's disease and fundus flavimaculatus with atrophic macular degeneration are identical, and to present a series of patients studied by fluorescein angiography consistent with the hypothesis that a late secondary or disuse atrophy of the choriocapillaris occurs in Stargardt's disease. Stargardt described four families. The disease seemed to show recessive inheritance, being present in siblings but never in successive generations. Symptoms were usually first noted between 8 and I6 years of age, and then progressed gradually and inexorably until all macular function was destroyed some years later. The first finding was a decrease in visual acuity, often more noticeable in the bright light than in the dark, with minimal by copyright. ophthalmoscopic changes. A faint irregularity in the pigment in the macular region was often all that could be seen at this stage, and the fundus might easily be passed as normal. Later, the foveal reflex was lost. Soft yellow-grey spots appeared in the macula which initially were barely distinguishable from the fundus background.
    [Show full text]
  • 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).
    [Show full text]
  • Author: Dr. Geary Rummler, OD - Northport VAMC Optometric Resident Co-Author: Dr
    Author: Dr. Geary Rummler, OD - Northport VAMC Optometric Resident Co-Author: Dr. Mark Hakim, OD - Northport VAMC Optometric Resident Title: A Complicating Case of Glaucoma Suspicion Confounded by Advanced Stargardt’s Disease: Testing and Alternatives for Appropriate Management. Abstract: The profile and testing for Glaucoma is well established, specifically for patients with average vision. This case-report investigates instruments and alternatives that should be emphasized for patients with advanced Stargardt’s Disease and Glaucoma Suspicion. I. Case History • Patient Demographics: 56 year old African American Male • Chief Complaint: Reduced vision, light sensitivity, and difficulty finding things he dropped or misplaced. • Ocular/Medical History: Advanced Stargardt’s, Glaucoma Suspicion, Borderline Diabetes, Hyperlipidemia, Hypertension, Depressive disorder, Back/lumbosacral pain, and Obesity • Medications: Artificial tears, Aspirin, Atenolol, Hydrochlorothiazide, Simvastatin • Other Salient Information: Legally blind under the U.S. Definition and accompanied by guide-dog II. Pertinent Findings • Clinical: Visual Acuity OD: 5ft/63 OS: 5ft/80 with illuminated Early Treatment Diabetic Retinopathy Study (ETDRS) chart. Pupils, EOMs, and slit lamp examination within normal limits. Intraocular Pressure (IOP) 13/13 mm Hg taken by applanation tonometry AM pressure reading. • Physical: Dilated fundus exam (DFE) - optic nerve head (ONH) appearance 0.7 cup to disk ratio with even superior and inferior rim tissue, well perfused, thinnest rim temporally OU. Macula central patch of geographic atrophy OU. Yellow-white flecks pisciform shape scattered throughout posterior pole. • Laboratory Studies: Octopus Visual Field, Goldmann Kinetic Visual Field • Radiology Studies: Fundus Photography, Heidelberg OCT Macula and OCT ONH retinal nerve fiber layer • Others: IOP historical maximum 19/18 mm Hg, Pachymetry 543/533, family history of glaucoma III.
    [Show full text]
  • Gene Therapy for Inherited Retinal Diseases
    1278 Review Article on Novel Tools and Therapies for Ocular Regeneration Page 1 of 13 Gene therapy for inherited retinal diseases Yan Nuzbrokh1,2,3, Sara D. Ragi1,2, Stephen H. Tsang1,2,4 1Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA; 2Jonas Children’s Vision Care, New York, NY, USA; 3Renaissance School of Medicine at Stony Brook University, Stony Brook, New York, NY, USA; 4Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, NY, USA Contributions: (I) Conception and design: All authors; (II) Administrative support: SH Tsang; (III) Provision of study materials or patients: SH Tsang; (IV) Collection and assembly of data: All authors; (V) Manuscript writing: All authors; (VI) Final approval of manuscript: All authors. Correspondence to: Stephen H. Tsang, MD, PhD. Harkness Eye Institute, Columbia University Medical Center, 635 West 165th Street, Box 212, New York, NY 10032, USA. Email: [email protected]. Abstract: Inherited retinal diseases (IRDs) are a genetically variable collection of devastating disorders that lead to significant visual impairment. Advances in genetic characterization over the past two decades have allowed identification of over 260 causative mutations associated with inherited retinal disorders. Thought to be incurable, gene supplementation therapy offers great promise in treating various forms of these blinding conditions. In gene replacement therapy, a disease-causing gene is replaced with a functional copy of the gene. These therapies are designed to slow disease progression and hopefully restore visual function. Gene therapies are typically delivered to target retinal cells by subretinal (SR) or intravitreal (IVT) injection.
    [Show full text]
  • Factsheet Stargardt Disease
    Stargardt Disease This most prevalent inherited macular degeneration affects approximately 1 in 10,000 people. Disease onset is in childhood or the second decade of life. In the majority of patients it leads to legal blindness. Stargardt disease is the leading inherited cause of vision im- pairment and vision loss. It is currently an incurable condition. Stargardt patients most commonly suffer from bilateral central visual loss, photophobia, color vision abnormalities, central scotomas and slow dark adaptation. The vision impairment is rapidly progressive and occurs most often between childhood and adolescence. Stargardt disease was first described by Karl Stargardt, a Ger- man ophthalmologist, during his time at Strasbourg’s university eye hospital in 1909. He observed a loss of central vision in a Picture 1: The arrow indicates typical series of patients who all had similar lesions in the macula, a macular changes in the retina of a 1 yellowish area of the retina near its center which hosts the patient with Stargardt disease largest density of photoreceptors and is the region of keenest vision. All patients had progressive vision loss over several years; his youngest patient was only 12 years old. While Star- gardt could not clearly confirm the hereditary nature of the disorder, he described a clear family pattern. Stargardt disease is associated with mutation in several genes. The most prevalent form follows a recessive pattern, i.e. one out of four children of parents who both carry one copy of the defective gene will develop clinical symptoms. There is also a rarer dominant form of the disease. The genetic defect affects Picture 3: Impaired vision of a pa- a transport mechanism in the cell membrane.
    [Show full text]
  • Progressive Cone and Cone-Rod Dystrophies
    Br J Ophthalmol: first published as 10.1136/bjophthalmol-2018-313278 on 24 January 2019. Downloaded from Review Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy Jasdeep S Gill,1 Michalis Georgiou,1,2 Angelos Kalitzeos,1,2 Anthony T Moore,1,3 Michel Michaelides1,2 ► Additional material is ABSTRact proteins involved in photoreceptor structure, or the published online only. To view Progressive cone and cone-rod dystrophies are a clinically phototransduction cascade. please visit the journal online (http:// dx. doi. org/ 10. 1136/ and genetically heterogeneous group of inherited bjophthalmol- 2018- 313278). retinal diseases characterised by cone photoreceptor PHOTORECEPTION AND THE degeneration, which may be followed by subsequent 1 PHOTOTRANSDUCTION CASCADE UCL Institute of rod photoreceptor loss. These disorders typically present Rod photoreceptors contain rhodopsin phot- Ophthalmology, University with progressive loss of central vision, colour vision College London, London, UK opigment, whereas cone photoreceptors contain 2Moorfields Eye Hospital NHS disturbance and photophobia. Considerable progress one of three types of opsin: S-cone, M-cone or Foundation Trust, London, UK has been made in elucidating the molecular genetics L-cone opsin. Disease-causing sequence variants 3 Ophthalmology Department, and genotype–phenotype correlations associated with in the genes encoding the latter two cone opsins University of California San these dystrophies, with mutations in at least 30 genes
    [Show full text]
  • Case Report Sarah Burgett, OD Primary Care/Low Vision Resident Marion VAMC Marion, IL
    Case Report Sarah Burgett, OD Primary Care/Low Vision Resident Marion VAMC Marion, IL Abstract A 52 year-old African American male has experienced a gradual decrease in visual acuity from 2008 to present. Ocular exams are unremarkable aside from the decrease in visual acuity. Grossly abnormal ERG results confirm progressive cone-rod dystrophy. I. Case History -Patient demographics: 52 year-old African American male -Chief complaint: Vision continues to slowly decline OU. Patient reports increased difficulty reading the Bible and other small print. -Ocular history: Myasthenia gravis x 25 years s/p thymectomy 1985. binding antibody (+), blocking/modulating antibody (-). Presented with ocular symptoms, but has become systemic. Mestinon was tried for his ocular symptoms, but it didn’t help. The patient has been on prednisone since. Doing well on prednisone 10mg QOD x many years. Diplopia/ptosis well controlled at this point. Further tapering (below 5mg/day or 10mg QOD) has been unsuccessful. Patient is follow by Neurology at Marion VA. -Medical history: Hypertension, elevated cholesterol, and pulmonary problems -Medications: 1) Colestipol HCl 1GM TAB to lower cholesterol 2) Diltiazem 180MG SA CAP for heart and blood pressure 3) Fenofibrate 145MG TAB to lower cholesterol and triglycerides 4) Hydrochlorothiazide 25MG TAB for fluid and blood pressure 5) Hydrocodone 5/Acetaminophen 500MG TAB PRN for pain 6) Lisinopril 20MG TAB to lower blood pressure 7) Prednisone 10MG TAB for myasthenia gravis - Allergies: Niacin, Zocor, Pravastatin, Crestor, Zetia 10MG TAB, Lopid 600MG TAB II. Pertinent findings -Clinical: Progressively declining BCVA OU 08/2003 20/20 OD, 20/20 OS 11/2008 20/20 OD, 20/20 OS 04/2009 20/25 OD, 20/30 NIPH OS 06/2010 20/40 OD, 20/50 OS 09/2010 20/30 OD, 20/50-2 12/2010 20/30 OD, 20/60-2 Entrance testing, slit lamp, intraocular pressure, dilated fundus examination all within normal limits OU; no ocular manifestations of myasthenia gravis.
    [Show full text]
  • Acquired Vitelliform Macular Dystrophy
    Ophthalmology Grand Rounds SUNY Downstate Medical Center Asher Neren MD July 18, 2013 HPI! 63 yo Female presents for initial exam. States she had noticed a decrease in her vision OU starting in her mid-50’s. Otherwise, no ocular complaints.! Denies any flashes or floaters OU! Patient History:! PMH: (+) HTN (+) DM (last A1C 6.2), (+) HLD, Benign Thyroid Nodule! POH: Denies! Gtts: None! Meds: Metformin, ASA 81, Glipizide, Januvia, Metoprolol, Lisinopril! FH: (-) glaucoma! Allergies: PCN ! Social History: neg x 3! Patient Care! Exam! ! VA cc: ! ¡ OD: 20/50! ¡ OS: 20/60! ¡ Mrx: ! ¡ OD: +2.25 -1.25 x 95 20/40 ! ¡ OS: +2.25 -1.00 x 105 20/40 ! Pupils: 3à2 , no apd ou! EOM: full! CVF: full! Tapp: 20/20! Patient Care! Slit Lamp Exam! L/L/A: wnl ou! C/S: w and q ou! K: clear ou! A/C: deep and quiet ou ! I/P: round and reactive ou, + nevus 5 o’ clock OS, (-) nvi ou ! L: trace NS OU! DFE: See Photos! Patient Care! Fundus Photos Patient Care! 5 Next Step ? Medical Knowledge 7 OCT macula! 17! 8 10 Differential Diagnosis! Medical Knowledge! Differential Diagnosis! Acquired Vitelliform Macular Dystrophy! Best’s Disease! Age Related Macular Degeneration! Dominant Drusen! Central Serous Chorioretinopathy! Pigment Epithelial Detachment! Stargardt’s Disease! Sorsby’s Fundus Dystrophy! Pattern Dystrophies! Medical Knowledge! " Acquired Vitelliform Macular Dystrophy (AVMD)! First reported by Gass in 1974 Characterized by a bilateral, yellow, solitary, round or oval subretinal macular lesion, 1/3- 1 DD in size with a central pigmented
    [Show full text]
  • View of the Different Approaches to Treating Irds
    Treating IRDs: Gene-Specific and Gene-Independent Approaches A review of the different approaches to treating IRDs. BY ALESSANDRO IANNACCONE, MD, MS, FARVO ith more than 300 disease- other approaches are necessary. Thus, this group of retinopathies is primar- causing genes mapped and gene/disease–independent treat- ily of the Leber congenital amaurosis more than 260 cloned,1 the ments (Figure 1B) are a top priority. (LCA) and early-onset retinitis pig- field of inherited retinal dis- This article reviews the state of IRD mentosa type, affecting a relatively eases (IRDs) has experienced treatment approaches. small group of patients with IRDs. Wtremendous advances over the past Thus, much work (and opportunity) is 2 decades. This vast genetic heterogene- GENE/DISEASE–SPECIFIC TREATMENTS ahead in the field for additional gene ity represents both a great opportunity The field of gene augmentation therapies to be tested in human clini- and a remarkable challenge. therapy (gene therapy for short) wit- cal trials and, one hopes, to become The identification of the causes of nessed a major breakthrough with approved treatments for patients with so many forms of IRD and the growing the US FDA approval of voretigene IRDs. A list of such trials is provided in body of knowledge of their functions neparvovec-rzyl (Luxturna, Spark Table 1 in alphabetical order, and the and underlying disease mechanisms Therapeutics) for RPE65-related reti- list is growing rapidly. have allowed the development of nopathies.2,3 Although this approval It should be emphasized that, exciting new gene/disease–specific created major momentum in the field, for gene therapy to be possible, treatment opportunities (Figure 1A).
    [Show full text]
  • Bone Marrow-Derived Stem Cells in the Treatment of Stargardt Disease
    medicines Article Stem Cell Ophthalmology Treatment Study (SCOTS): Bone Marrow-Derived Stem Cells in the Treatment of Stargardt Disease Jeffrey N. Weiss 1 and Steven Levy 2,* 1 Coral Ridge Medical Center, 821 Coral Ridge Drive, Coral Springs, FL 33065, USA; [email protected] 2 MD Stem Cells, 3 Sylvan Road South, Westport, CT 06880, USA * Correspondence: [email protected]; Tel.: +1-203-423-9494 Abstract: Background: Stargardt Disease is the most common inherited macular degeneration, typically resulting in progressive central vision loss and legal blindness at an early age. We report regarding 34 eyes with Stargardt Disease treated in the Stem Cell Ophthalmology Treatment Study (SCOTS and SCOTS2). Methods: Autologous bone marrow was processed, separating the stem cell fraction which was provided Arms using retrobulbar, subtenons, intravitreal or subretinal and intravenous. The follow-up period was one year. Results: Of the 34 treated eyes, 21 (61.8%) improved, 8 (23.5%) remained stable, and 5 (14.7%) showed continued progression of their disease. Results were statistically significant with p = 0.0004. The average central vision improvement following treatment was 17.96% (95%CI, 16.39–19.53%) and ranged up to 80.5%. Of 17 patients treated, 13 (76.5%) showed visual acuity improvement in one or both eyes, 3 patients (17.6%) showed no net loss, and 1 worsened as a consequence of disease progression; 94.1% of patients had improved vision or remained stable. There were no adverse events. Conclusions: Patients with Stargardt Disease may potentially benefit from autologous bone marrow-derived stem cells (BMSC) as provided in SCOTS.
    [Show full text]