Genetics of Eye Diseases An Overview
This book provides comprehensive information on the genetics of eye diseases affecting various parts of the eye, and addresses a range of genetic etiologies. These diseases include several hereditary disorders of anterior and posterior segment, and with d
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Genetics of Eye Diseases
Chitra Kannabiran
Genetics of Eye Diseases An Overview
Chitra Kannabiran Kallam Anji Reddy Molecular Genetics Laboratory L V Prasad Eye Institute (LVPEI) Hyderabad India
ISBN 978-981-13-7145-5 ISBN 978-981-13-7146-2 (eBook) https://doi.org/10.1007/978-981-13-7146-2 © Springer Nature Singapore Pte Ltd. 2019 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 Singapore Pte Ltd. The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore
Preface
The Genetics of Eye Diseases is written as a broad overview of the field that attempts to capture salient aspects pertaining to the current state of knowledge in several major eye diseases. Since the subject of eye diseases is very vast, there are diseases that could not be included here, though they may be important causes of visual impairment and blindness and of scientific interest to many in the field. Knowledge of the genetic and molecular basis of various eye diseases has accumulated through studies done across the world over several decades on clinically defined families and populations, using methods of gene identification, and also of studying protein function, that have been continuously evolving over time. Thus, I have tried to present the genetics of each eye disease through a discussion of the discoveries made and the approaches used to arrive at the same. It has been said that every revolution in science is a revolution in method. Hence, looking at the methods used, however cursorily, can be a key to understanding the evolution of the field as a whole. Though I had to be necessarily selective (and brief) about the content, hopefully the major trends and features of the genetics of each of the diseases are captured. In fact, a major dilemma in writin
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