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Retinal and Choroidal Manifestations

of Selected Systemic Diseases

J. Fernando Arévalo

Editor

Retinal and Choroidal

Manifestations of

Selected Systemic

Diseases

Editor

J. Fernando Arévalo, MD, FACS

Chief of Vitreoretinal Division

The King Khaled Eye Specialist Hospital

Riyadh, Kingdom of Saudi Arabia

Professor of Ophthalmology

Wilmer Eye Institute at The Johns

Hopkins University

Baltimore, Maryland, USA

ISBN 978-1-4614-3645-4 ISBN 978-1-4614-3646-1 (eBook)

DOI 10.1007/978-1-4614-3646-1

Springer New York Heidelberg Dordrecht London

Library of Congress Control Number: 2012941500

© Springer Science+Business Media New York 2013

This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law.

The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use.

While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein.

Printed on acid-free paper

Springer is part of Springer Science+Business Media (www.springer.com)

Foreword

Few abnormalities are so prevalent and devastating as those seen as ocular manifestations of systemic diseases. These lesions are associated with systemic disorders, which include familial, degenerative, oncological, inflammatory, vascular diseases … and beyond. Yet, very little is known about the pathogenesis and treatment of many of these syndromic conditions. Given the expanding and developmental use of evolving ophthalmic imaging modalities, there has been improvement in early recognition and precise identification of focal and generalized ocular-systemic-related manifestations. In particular, diseases related with permeability, ischemic, proliferative, inflammatory, and infectious abnormalities have become increasingly associated with certain ocular-sys- temic relationships.

Fortunately, clinical research and imaging developments have made notable advances in identifying these ocular changes and have been incorporated in Retinal and Choroidal Manifestations of Selected Systemic Diseases to enhance the educational value of this superb text. The selected ocular-systemic relationships have also provided a better understanding of the primary diseases and the mechanisms for the abnormalities expressed in the eye. These relationships have been spirited by discoveries in molecular biology, genetics, biochemical and vasogenic processes, and degenerative pathways. In particular, new imaging technology has aided in displaying micro-abnormalities related to the pathogenesis of these systemic diseases, expanding our understanding of the specific entities and the nature of the mechanisms responsible for the ocular manifestations. Knowledge of these associations in our diagnostic and therapeutic capabilities has offered physicians and patients a better prognosis and, in some cases, a better form of management in each disease than in the past.

Beginning with improvement in photographic, ultrasonographic, and angiographic technology in the 1960s, several comprehensive textbooks and atlases have been written to compile these newly recognized and defined relationships between ocular manifestations and systemic diseases. For sure, the editor, Dr. Fernando Arévalo, and the contributing authors of this text have provided by far the best documentation of the nature of ocular manifestations in systemic diseases for its readers. Indisputably, the coauthors are all wellknown leaders in their respective fields with notable original and lasting contributions to one or more of the principal selected subjects covered in the text. Accordingly, each section discusses the most advanced concepts regarding

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the clinical expectations and management considerations of these disorders. Each section also provides the latest information on the natural course, the limitations and potential adverse effects of treatment, and the anticipated benefits. A review of the ophthalmic literature leading to standards of care based on evidence-based medicine, specifically the randomized trial, is also incorporated into these discussions. In essence, all new information on retinal genetics, molecular biology, risk factors, natural course, diagnostic testing, and specialized imaging and, whenever possible, correlating histopathology has been compiled in this text in an authoritative and comprehensive format not found in any similar, previous publication. An attempt to assimilate ocular-clinical information into logical explanations on the mechanisms of the related pathophysiological manifestations and recommendations for converging lines of future clinical and experimental research for practical means of prevention and treatment have been addressed.

Rarely have students, comprehensive physicians, ophthalmologists, and ancillary medical personnel alike had the opportunity to read such a scholarly approach on this subject. There have been several publications which have specific associations, but none has attempted to engage an elite corps of experts to elegantly describe and amply illustrate the gamut of ocular abnormalities that are the result of systemic disorders. In short, Fernando Arévalo has achieved success in fulfilling a challenging goal in this concise, salient, and excellent text. The principal author and editor and his expert contributors are to be congratulated for compiling an educational masterpiece of encyclopedic medical information on ocular manifestations and associated systemic diseases. Essentially, this new text represents a labor of love by an elite corps of expert clinical and scientific contributors. Their monumental efforts will be rewarded by the gratitude of clinicians and patients who will receive immense pleasure, whether a casual or discerning reader.

Lawrence A. Yannuzzi, M.D.

Preface

I was privileged to be the senior author of a course entitled “Retinal and Choroidal Manifestations of Selected Systemic Diseases” at the American Academy of Ophthalmology (AAO) Annual Meeting, New Orleans, LA, November 2007. My faculty included prestigious international experts in the field such as Rubens Belfort Jr., Carol L. Shields, Jerry A. Shields, Careen Lowder, Lihteh Wu, William F. Mieler, Francisco J. Rodríguez, and Alay S. Banker. Our course has been accepted for presentation every year since 2007 with a rotation of the selected systemic diseases discussed each year.

The popularity of our course is based on the necessity to link ophthalmology to other specialties in medicine. We as ophthalmologists need to be aware of recent advances in other fields in medicine. However, at the same time, we need to demonstrate to other physicians the importance of ophthalmic consultation. To be aware of the retinal and choroidal manifestations of a series of systemic diseases may save sight and even life itself in some cases. The best way to reach all of our colleagues in other specialties in medicine is through a book that touches both fields.

Our AAO course has served as the trigger to start the editing of a comprehensive presentation of the current clinical aspects of Retinal and Choroidal Manifestations of Selected Systemic Diseases. This book includes contributions from an internationally renowned group of experts from the USA, Brazil, Colombia, Costa Rica, Mexico, Turkey, India, Israel, and Venezuela. The topics discussed in this book do not pretend to be all inclusive but include retinal and choroidal manifestations of AIDS, diffuse unilateral subacute neuroretinitis (DUSN), posterior pole manifestations of cysticercosis, toxocariasis, tuberculosis, toxoplasmosis, viral diseases, fungal diseases, endogenous endophthalmitis, sarcoidosis, Behçet’s disease, intraocular lymphoma, choroidal and retinal metastasis, autoimmune retinopathy, paraneoplastic syndromes – MAR and CAR, retinal and choroidal manifestations of diseases of the gastrointestinal tract, phacomatosis, systemic lupus erythematosus, Vogt-Koyanagi-Harada syndrome, retinal detachment and lens subluxation in Marfan syndrome, diabetic retinopathy, retinal and choroidal changes in systemic hypertension, posterior pole manifestations of hematologic diseases, carotid artery disease, renal diseases, retinal and choroidal changes in pregnancy, and retinal and choroidal toxicity of systemic drugs.

The impetus to edit this book has come from my students and my colleagues in all fields of medicine. The book is intended for retina and vitreous

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specialists, uveitis and ocular oncology specialists, retina and vitreous fellows, uveitis and ocular oncology fellows, ophthalmology residents, comprehensive ophthalmologists, and physicians in general.

The principal objective of this text is to present the current information on retinal and choroidal manifestations of systemic diseases from leading experts in the field. We hope their knowledge and experience will assist ophthalmologists, retina specialists, uveitis and ocular oncology specialists, and physicians in general approach a level of knowledge about retinal and choroidal manifestations of systemic diseases to benefit their patients in everyday clinical practice.

Baltimore, Maryland, USA

J. Fernando Arévalo, M.D., F.A.C.S.

Riyadh, Kingdom of Saudi Arabia