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.