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Robert M. Verdijk - Fetal and Neonatal Eye Pathology

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Robert M. Verdijk Fetal and Neonatal Eye Pathology

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Robert M Verdijk and Martina C Herwig-Carl Fetal and Neonatal Eye Pathology - photo 1
Robert M. Verdijk and Martina C. Herwig-Carl
Fetal and Neonatal Eye Pathology
Robert M Verdijk Department of Pathology Section Ophthalmic Pathology - photo 2
Robert M. Verdijk
Department of Pathology, Section Ophthalmic Pathology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
Martina C. Herwig-Carl
Department of Ophthalmology, University Hospital Bonn, Bonn, Germany
ISBN 978-3-030-36078-8 e-ISBN 978-3-030-36079-5
https://doi.org/10.1007/978-3-030-36079-5
Springer Nature Switzerland AG 2020
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.
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.
The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This Springer imprint is published by the registered company Springer Nature Switzerland AG

The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

Preface

Fetal and neonatal eye pathology is a subspecialty that is performed only at a few university hospitals. But the evaluation of fetal eyes can provide crucial information for a postmortem diagnosis. It does require detailed knowledge of ophthalmic and developmental pathology, particularly regarding syndromes. This book aims to guide specialists to appropriately gross and examine these eyes in order to provide a correct diagnosis and interpretation of the findings. Thus, we provide reference images on fetal development; guidelines on grossing and handling of fetal eyes; case illustrations of common malformations, infections, and tumors (including findings from other specialties such as neuropathology, placental pathology, and genetics); and we address the complicated topic of artifacts. Furthermore, special emphasis is given to documentation and interpretation of cases with supposed abusive head trauma, which is of forensic importance. In the context of retinopathy of prematurity, histopathological and clinical findings are correlated.

As both authors are dedicated to ophthalmic pathology and fetal eye pathology, we wish to share our knowledge with the community and hope that this illustrated textbook is supportive for others working in this field. We are open to questions and feedback and also welcome the opportunity to give our opinion on your cases.

Robert M. Verdijk
Martina C. Herwig-Carl
Rotterdam, The Netherlands Bonn, Germany
Acknowledgments

We would like to thank the entire laboratory team of the University Eye Department, Bonn, and the Department of Pathology of the Erasmus MC University Medical Center, Rotterdam, in particular our technicians for their many years of support. This book project would not have been feasible without their commitment to ocular pathology. We wish to thank Frank van der Panne, medical photographer for his aid in optimizing all images.

We also thank all colleagues who referred specimens for evaluation (in Bonn mainly Prof. Annette Mller, Pediatric Pathology, University Clinic of Cologne) for their support. Special thanks go to Karin Lffler who, with her broad knowledge and experience in eye pathology and general ophthalmology, helped to establish the investigation of fetal eyes in the Ophthalmic Pathology Laboratory in Bonn. Special thanks to the predecessors in the Section of Ophthalmic Pathology at the Erasmus MC University Medical Center: Dr. Cornelia M. Mooy and the late Prof. Dr. Willem Manschot who have diagnosed, carefully documented, and archived many of the exemplary cases provided in this book.

We thank the members of the European Ophthalmic Pathology Society (EOPS) and the Verhoeff-Zimmerman Society (VZS) for their support, fruitful discussion of presented cases, and the permission to take photographs of the circulated pathology slides illustrating unique fetal ocular conditions.

Last but not least, we would like to thank our families for the continuing support of our scientific projects and professional dedication. This means a lot to us.

Contents
Springer Nature Switzerland AG 2020
R. M. Verdijk, M. C. Herwig-Carl Fetal and Neonatal Eye Pathology https://doi.org/10.1007/978-3-030-36079-5_1
1. Development of the Human Eye
Robert M. Verdijk
(1)
Department of Pathology, Section Ophthalmic Pathology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
(2)
Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands
(3)
Department of Ophthalmology, University Hospital Bonn, Bonn, Germany
Robert M. Verdijk (Corresponding author)
Email:
Martina C. Herwig-Carl
Keywords
Embryo Fetus Newborn Eye Development Optic cup Neural crest Coloboma Choristoma

The development of the human eye starts in the third week of the embryonal stage, continues through the fetal stage, and is completed after birth. The intricate processes of the ocular development may be disturbed at any stage, leading to more or less severe congenital malformations such as colobomas or anterior segment developmental anomalies . This chapter delineates the fetal and neonatal eye development based on images of the developing human eye, with an emphasis on the second and third trimesters which are most relevant for pathological examination. Processes required to understand congenital malformations of the eye are emphasized.

1.1 Ocular Development During Embryogenesis and Organogenesis
The development of the human eye has been precisely described in many books [ provides an overview of the key developmental steps with relevance to the determination of the fetal age and potential abnormalities resulting in ocular disease.
Table 1.1

Key steps in ocular development with relevance for the determination of the fetal age and potential ocular diseases

Embryonal stage

Fetal stage

Postnatal period

Month 1

Month 2

Month 3

Month 4

Month 5

Month 6

Month 7

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