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Gemmy Cheung - Hereditary Chorioretinal Disorders

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Gemmy Cheung Hereditary Chorioretinal Disorders
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Gemmy Cheung - Hereditary Chorioretinal Disorders
Hereditary Chorioretinal Disorders
Gemmy Cheung
Hereditary Chorioretinal Disorders

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Retina Atlas Series Editors Sandeep Saxena Department of Ophthalmology King - photo 1
Retina Atlas
Series Editors
Sandeep Saxena
Department of Ophthalmology, King Georges Medical University, Lucknow, Uttar Pradesh, India
Richard F. Spaide
Vitreous Retina Macula Consultants of New York, New York, NY, USA
Eric H. Souied
Department of Ophthalmology, University Paris-Est Crteil, Crteil Cedex, France
Timothy Y. Y. Lai
Department of Ophthalmology and Visual Sciences, Chinese University of Hong Kong, Hong Kong, Hong Kong

The 9-volume atlas covers validated and comprehensive information on retinal imaging, retinal vascular disorders, macular disorders, vitreoretinal surgical diseases, infectious and inflammatory disorders, retinal degenerations and dystrophies, pediatric retinal diseases, oncology, and trauma. This atlas with over 100 chapters is well supported with hundreds of high-quality images and text notes providing in-depth details and information in a well-organized manner.

The editors Sandeep Saxena (India), Richard F. Spaide (USA), Eric H. Souied (France) and Timothy Y.Y. Lai (Hong Kong), volume editors and contributing authors are reputed eye physicians in their field with vast clinical experience.

This series has a full dedicated volume on imaging and includes various imaging technologies like optical coherence tomography, fluorescein angiography, etc. It provides global perspective of vitreoretinal diseases extensively covering medical and surgical aspects of the disease. Uncommon retinal findings in diseases such as Dengue hemorrhagic fever, malaria etc. are also covered well.

Retina Atlasis a useful go-to series meant for ophthalmology residents, retina fellows, and retina specialists as well as general ophthalmologists.

Retina Atlas series includes the following 9 Volumes:

1. Retinal Imaging

2. Retinal Vascular Disorders

3. Macular Disorders

4. Surgical Retina

5. Inflammatory and Infectious Ocular Disorders

6. Hereditary Chorioretinal Disorders

7. Pediatric Retinal Diseases

8. Ocular Oncology

9. Trauma and Miscellaneous Disorders in Retina

More information about this series at http://www.springer.com/series/16451

Editor
Gemmy Cheung
Hereditary Chorioretinal Disorders
Editor Gemmy Cheung Singapore National Eye Center Singapore Singapore - photo 2
Editor
Gemmy Cheung
Singapore National Eye Center, Singapore, Singapore
ISSN 2662-5741 e-ISSN 2662-575X
Retina Atlas
ISBN 978-981-15-0413-6 e-ISBN 978-981-15-0414-3
https://doi.org/10.1007/978-981-15-0414-3
Springer Nature Singapore Pte Ltd. 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 Singapore Pte Ltd.

The registered company address is: 152 Beach Road, #21-01/04 Gateway East, Singapore 189721, Singapore

Contents
Hung-Da Chou , An-Lun Wu , Yu-Chun Cheng and Nan-Kai Wang
Christine Anggun Putri , Edward Pritchard and Fahd Quhill
Eugene Yu-Chuan Kang and Nan-Kai Wang
Andrew Tsai , Adrian Koh , Ranjana Mathur and Gemmy C. M. Cheung
Andrew Tsai , Adrian Koh , Nan-Kai Wang , Ranjana Mathur and Gemmy C. M. Cheung
Veronika Vaclavik
Leslie Small , Kent Small and Fadi Shaya
Ian M. MacDonald , Natalia Binczyk , Alina Radziwon and Ioannis Dimopoulos
Veronika Vaclavik
Eugene Yu-Chuan Kang and Nan-Kai Wang
Jessy Choi and Alexander Bossuyt
About the Editor
Gemmy Cheung

is currently Deputy Head and Senior Consultant at the Medical Retina Service, Singapore National Eye Centre. She is also head of the retinal research group at the Singapore Eye Research Institute. Her research interests include the study of risk factors and clinical features of macular diseases that may be unique to Asian populations.

Dr. Cheung has published over 150 articles, mostly on age-related macular degeneration, including polypoidal choroidal vasculopathy. She has conducted several clinical trials on anti-vascular endothelial growth factor therapies. She has been actively involved in training and education and has served as an instructor for APAO and AAO courses and many other educational programs. She is also a volunteer faculty for the ORBIS Flying Eye Hospital program.

Dr. Cheung has received a number of prestigious awards, including the Macula Society Young Investigator Award (2017), APAO Achievement Award (2017), APAO Nakajima Award (2014), APAO Outstanding Service in Prevention of Blindness Award (2013), Bayer Global Ophthalmology Research Award (2012), the Roper-Hall Medal (2005) and the Elizabeth Hunt Medal (Royal College of Ophthalmologists, UK).

Springer Nature Singapore Pte Ltd. 2020
G. Cheung (ed.) Hereditary Chorioretinal Disorders Retina Atlas https://doi.org/10.1007/978-981-15-0414-3_1
1. Retinitis Pigmentosa
Hung-Da Chou
(1)
Department of Ophthalmology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan
(2)
Department of Medicine, Chang Gung University, College of Medicine, Taoyuan, Taiwan
(3)
Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University, New York, USA
Hung-Da Chou
An-Lun Wu
Yu-Chun Cheng
Nan-Kai Wang (Corresponding author)
Introduction
Retinitis pigmentosa (RP) is a heterogeneous group of disorders characterized by the degeneration of photoreceptor cells and the retinal pigment epithelium (RPE), leading to profound vision loss or blindness. The prevalence of RP is approximately one in every 4000 individuals worldwide (Hartong et al. ). Even though there are no inflammatory processes in RP, the same name is still used today. To date, over a hundred years later, several treatment options have been proposed for patients with RP such as gene therapy, stem cells, and retinal prosthesis. However, long-term outcomes still need further investigation.
Fig 11 A pathology illustration of retina pigmentation recreated from the - photo 3
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