Clinico-Pathological Atlas of Congenital Fundus Disorders

Clinico-Pathological Atlas of Congenital Fundus Disorders

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

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 978-1-4613-9322-1 ISBN 978-1-4613-9320-7 (ebook) DOI 10.1007/978-1-4613-9320-7 l. Fundus oculi--diseases--atlases. 2. Abnormalities, Human- -Atlases. 1. Friedman, Alan H., 1937-. II. Title. [DNLM: l. Eye Abnormalities--pathology--atlases. 2. Retina! Diseases--congenital--atlas. 3. Retina! Diseases--pathology- -atlases. WW 17 066c] RE545.074 1993 617.7'4--dc20 DNLM/DLC for Library of Congress 92-49529 Printed on acid-free paper. 1993 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 9 8 7 6 5 4 3 2 1

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

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.

Contents Preface... Vll Section 1. Elementary Principles 1. Anatomy and Embryology... 3 2. Basics of Pathology... 11 3. Basics of Ocular Genetics... 19 4. Methods of Examination... 23 Section 2. Infectious Diseases 5. Cysticercus... 43 6. Cytomegalic Inclusion Disease... 47 7. Herpes Simplex... 49 8. Luetic Chorioretinitis... 53 9. Rubella Retinopathy... 57 10. Toxocara canis... 59 11. Toxoplasmosis...... 63 Section 3. Vitreoretinal Degenerations 12. Goldmann-Favre Syndrome... 69 13. Familial Exudative Vitreoretinopathy... 73 14. Wagner Syndrome and Stickler Syndrome... 77 15. Juvenile Retinoschisis... 81

x CONTENTS Section 4. Vascular Diseases 16. Coat's Disease... 87 17. Eales' Disease... 91 18. Retinopathy of Prematurity... 95 19. Sickle Cell Disease... l 0 1 Section 5. Vitreous 20. Bergmeister's Papilla... 107 21. Persistent Hyaloid Artery... 1 09 22. Persistent Hyperplastic Primary Vitreous... 111 23. Pigmented Vitreous Cyst... 115 Ssection 6. Optic Nerve 24. Optic Atrophy... 119 25. Ocular Coloboma... 123 26. Drusen of the Optic Nerve... 127 27. Optic Nerve Hypoplasia and Megalopapilla... 129 28. Morning Glory Disc Anomaly... 133 29. Congenital Optic Pit... 137 30. Tilted Disc... 141 31. Prepapillary Vascular Loop... 143 Section 7. Pigment Epithelium 32. Best's Disease... 147 33. Combined Hamartoma of the Retina and Retinal Pigment Epithelium... 151 34. Congenital Hypertrophy of the Retinal Pigment Epithelium... 153 35. Dominant Drusen... 157 36. Leber's Congenital Amaurosis... 161 37. Retinitis Pigmentosa... 163 38. Pigmented Paravenous Retinochoroidal Atrophy... 169 39. Stargardt's Disease... 171 Section 8. Choroid 40. Central Areolar Choroidal Dystrophy... 177 41. Choroideremia... 179 42. Gyrate Atrophy... 183 Section 9. Phakomatoses 43. Ataxia-Telangiectasia... 189 44. Neurofibromatosis... 191 45. Sturge-Weber Syndrome... 195

CONTENTS Xl 46. Cavernous Hemangioma... 199 47. Tuberous Sclerosis... 203 48. Von Hippel-Lindau Disease... 207 49. Wyburn-Mason Syndrome (Racemose Hemangioma)....211 Section 10. Tumors 50. Choroidal Nevi... 215 51. Melanocytoma of the Optic Nerve Head... 217 52. Mefanoma... 221 53. Medulloepithelioma... 227 54. Retinoblastoma... 229 Section 11. Miscellaneous Disorders 55. Albinism... 237 56. Angioid Streaks... 241 57. Incontinentia Pigmenti/Block -Sulzberger Syndrome... 245 58. Medullated Nerve Fibers... 249 59. Myopia... 253 60. Fabry's Disese... 257 61. Tay-Sachs Disease... 261 Index... 265