Clinico-Pathological Atlas of Congenital Fundus Disorders

Transcription

1 Clinico-Pathological Atlas of Congenital Fundus Disorders

2 Juan Orellana Alan H. Friedman Clinico-Pathological Atlas of Congenital Fundus Disorders With 236 Illustrations 196 in Color Springer Science+ Business Media, LLC

3 Juan Orellana, M.D., F.A.C.S. Associate Clinica! Professor of Ophthalmology Mount Sinai School of Medicine New York, NY 10029, USA Alan H. Friedman, M.D. Clinica! Professor of Ophthalmology Mount Sinai School of Medicine New York, NY 10029, USA Library of Congress Cataloging-in-Publication Data Orellana, Juan. Clinico-pathological atlas of congenital fundus disorders / Juan Orellana, Alan H. Friedman. p. cm. lncludes bibliographical references and index. ISBN ISBN (ebook) DOI / l. Fundus oculi--diseases--atlases. 2. Abnormalities, Human- -Atlases. 1. Friedman, Alan H., II. Title. [DNLM: l. Eye Abnormalities--pathology--atlases. 2. Retina! Diseases--congenital--atlas. 3. Retina! Diseases--pathology- -atlases. WW c] RE '4--dc20 DNLM/DLC for Library of Congress Printed on acid-free paper Springer Science+Business Media New York Originally published by Springer-Verlag New York in 1993 Softcover reprint of the hardcover 1st edition 1993 All rights reserved. This work may not be translated or copied in whole or in part without the written permission of the publisher (Springer Science+Business Media, LLC), except for brief excerpts in connection with reviews or scholarly analysis. Use in connection with any form of information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed is forbidden. The use of general descriptive names, trade names, trademarks, etc., in this publication, even if the former are not especially identified, is not to be taken as a sign that such names, as understood by the Trade Marks and Merchandise Marks Act, may accordingly be used freely by anyone. While the advice and information in this book are believed to be true and accurate at the date of going to press, neither the authors nor the editors nor the publisher can accept any 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. Production managed by Christin R. Ciresi; manufacturing coordinated by Rhea Talbert. Photocomposed pages prepared from the author's MacWrite II files using QuarkXPress. Printed and bound by Walsworth Publishing Co., Marceline MO, USA

4 For my wife, Jeanne, my children Adam, Nikelle, Jennifer, and Jason, and my parents, Juan and Rosaura

5 Preface Over the many years of practice, countless referrals have been made by ophthalmologists curious enough to ask the question, "What is this?" Ophthalmology being such a visual discipline, we often refer to texts with many illustrations in an attempt to match the lesion to the picture. Once we have found the appropriate match, we can discuss the diagnosis and the ultimate visual prognosis and therapy with the patient. A great sigh of relief often accompanies the explanation that the lesion is benign, not a malignancy. For some patients the lesions are amenable to therapy, whereas for others a systemic syndrome has been diagnosed that includes ocular manifestations. Appropriate referral can then be made to ensure that the patient will enjoy good health despite having several systems involved. The purpose of this book is to provide the reader with a concise but extensively illustrated text that points out the salient clinical features of congenital anomalies of the vitreous, retina, and choroid and then correlates these features with the associated pathology. The book has been divided into sections dealing with various aspects of vitreoretinal disorders including genetic, vascular, infectious, and neoplastic entities. The subject of pathology (as much as possible) has been included because to truly understand the implications of a disease, its therapy, and its prognosis, its pathology must be understood. Therapy and visual prognosis have been included to complete the discussions. We have included the angiographic and ultrasonographic findings wherever possible. These ancillary tests often help in the differential diagnosis of fundus disorders. Selected references have been included to enable the reader to research the topic in more depth. Many excellent references have been omitted for lack of space, although their contributions have been included in the text. As with any other discipline, to decipher a problem one must be versed in the steps and methods needed to solve the puzzle. In this case, it means that the reader should be familiar with anatomy and embryology, ocular genetics, basics of pathology and methods of examination used in adults and children. This information forms the foundation on which the rest of the book is based.

6 Contents Preface... Vll Section 1. Elementary Principles 1. Anatomy and Embryology Basics of Pathology Basics of Ocular Genetics Methods of Examination Section 2. Infectious Diseases 5. Cysticercus Cytomegalic Inclusion Disease Herpes Simplex Luetic Chorioretinitis Rubella Retinopathy Toxocara canis Toxoplasmosis Section 3. Vitreoretinal Degenerations 12. Goldmann-Favre Syndrome Familial Exudative Vitreoretinopathy Wagner Syndrome and Stickler Syndrome Juvenile Retinoschisis... 81

7 x CONTENTS Section 4. Vascular Diseases 16. Coat's Disease Eales' Disease Retinopathy of Prematurity Sickle Cell Disease... l 0 1 Section 5. Vitreous 20. Bergmeister's Papilla Persistent Hyaloid Artery Persistent Hyperplastic Primary Vitreous Pigmented Vitreous Cyst Ssection 6. Optic Nerve 24. Optic Atrophy Ocular Coloboma Drusen of the Optic Nerve Optic Nerve Hypoplasia and Megalopapilla Morning Glory Disc Anomaly Congenital Optic Pit Tilted Disc Prepapillary Vascular Loop Section 7. Pigment Epithelium 32. Best's Disease Combined Hamartoma of the Retina and Retinal Pigment Epithelium Congenital Hypertrophy of the Retinal Pigment Epithelium Dominant Drusen Leber's Congenital Amaurosis Retinitis Pigmentosa Pigmented Paravenous Retinochoroidal Atrophy Stargardt's Disease Section 8. Choroid 40. Central Areolar Choroidal Dystrophy Choroideremia Gyrate Atrophy Section 9. Phakomatoses 43. Ataxia-Telangiectasia Neurofibromatosis Sturge-Weber Syndrome

8 CONTENTS Xl 46. Cavernous Hemangioma Tuberous Sclerosis Von Hippel-Lindau Disease Wyburn-Mason Syndrome (Racemose Hemangioma) Section 10. Tumors 50. Choroidal Nevi Melanocytoma of the Optic Nerve Head Mefanoma Medulloepithelioma Retinoblastoma Section 11. Miscellaneous Disorders 55. Albinism Angioid Streaks Incontinentia Pigmenti/Block -Sulzberger Syndrome Medullated Nerve Fibers Myopia Fabry's Disese Tay-Sachs Disease Index