Ophthalmic Genetic Disease


Ophthalmic Genetic Disease
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Ophthalmic Genetic Disease


Ophthalmic Genetic Disease
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Author : Natario L. Couser
language : en
Publisher: Elsevier Health Sciences
Release Date : 2018-09-22

Ophthalmic Genetic Disease written by Natario L. Couser and has been published by Elsevier Health Sciences this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-09-22 with Medical categories.


Comprehensive yet concise, Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, by Dr. Natario L. Couser, provides current, clinically focused information on more than 400 genetic eye diseases. This first-of-its-kind title is a useful resource for busy medical students, residents, or fellows, and is a handy quick reference for practicing ophthalmologists, geneticists, genetic counselors, pediatricians, optometrists, and other healthcare professionals who evaluate and manage patients with genetic eye diseases. Groups genetic abnormalities by anatomical location most often affected for easy reference. Synthesizes complex genetic data and research into digestible and practical guidance for understanding the genetic aspects of eye disease. Presents relevant clinical information in a concise and organized manner to help you make a diagnosis or assist in guiding referrals. Includes an appendix covering genetic eye disorders by clinical sign. Consolidates today’s available information and guidance into a single, convenient resource.



Genetic Diseases Of The Eye


Genetic Diseases Of The Eye
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Author : Elias I. Traboulsi
language : en
Publisher: OUP USA
Release Date : 2012-01-12

Genetic Diseases Of The Eye written by Elias I. Traboulsi and has been published by OUP USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-01-12 with Medical categories.


This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.



A Compendium Of Inherited Disorders And The Eye


A Compendium Of Inherited Disorders And The Eye
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Author : Elias I. Traboulsi M.D.
language : en
Publisher: Oxford University Press
Release Date : 2005-12-01

A Compendium Of Inherited Disorders And The Eye written by Elias I. Traboulsi M.D. and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-12-01 with Medical categories.


During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.



Ophthalmic Genetic Diseases


Ophthalmic Genetic Diseases
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Author : Natario L. Couser
language : en
Publisher:
Release Date : 2018-09-24

Ophthalmic Genetic Diseases written by Natario L. Couser and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-09-24 with Medical categories.


This book provides current, clinically focused information on more than 400 genetic eye diseases.



Genetics In Ophthalmology


Genetics In Ophthalmology
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Author : B. Wissinger
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2003-01-01

Genetics In Ophthalmology written by B. Wissinger and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-01-01 with Medical categories.


The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.



Wills Eye Handbook Of Ocular Genetics


Wills Eye Handbook Of Ocular Genetics
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Author : Alex V. Levin
language : en
Publisher: Thieme
Release Date : 2016-10-01

Wills Eye Handbook Of Ocular Genetics written by Alex V. Levin and has been published by Thieme this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-10-01 with Medical categories.


Highly Commended by the BMA Medical Book Awards for Surgical Specialties! Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists' purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders. The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes. Key Features Fundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issues Patient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future options Anterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmia A broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisis This textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease.



Genetic Mutations Associated With Ocular Diseases


Genetic Mutations Associated With Ocular Diseases
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Author : Minzhong Yu
language : en
Publisher: Frontiers Media SA
Release Date : 2022-02-04

Genetic Mutations Associated With Ocular Diseases written by Minzhong Yu and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-02-04 with Science categories.




Genetics For Ophthalmologists


Genetics For Ophthalmologists
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Author : Graeme C. M. Black
language : en
Publisher: Remedica Publishing
Release Date : 2002

Genetics For Ophthalmologists written by Graeme C. M. Black and has been published by Remedica Publishing this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with Eye categories.


Over the past decade advances in molecular biology have transformed our understanding of the genetic basis of a broad range of ophthalmic conditions and of the disease processes that underlie them. Genetics for Ophthalmologists gives a concise summary of the current clinical understanding of genetic ophthalmology and how it may be applied to diagnosis management and counseling of patients with inherited eye diseases. In addition the book gives detailed information of recent advances in genetic eye disease and how disease pathophysiology correlates with this molecular genetic information. Genetics for Ophthalmologists is aimed at general and specialist ophthalmologists, at trainees at all levels as well as at clinical and molecular geneticists interested in the genetics of eye disease.



Genetics Of Ocular Diseases


Genetics Of Ocular Diseases
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Author : H. V. Nema
language : en
Publisher: Springer Nature
Release Date : 2022-03-11

Genetics Of Ocular Diseases written by H. V. Nema and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-03-11 with Medical categories.


The book focuses on describing the importance of genetics in eye diseases in a comprehensive and concise manner. Mutations in different set of genes have been detected and incriminated in complex mechanisms of causing leading eye diseases such as cataract and glaucoma. This book written by well-established ophthalmologists and geneticists presents a complicated subject in simple and easy to understand manner. Chapters cover the concept of gene therapy which is an emerging subject with high potential. The book includes a separate chapter on genetic counseling, which has become an integral component of ophthalmology. The book will assist the practicing ophthalmologists in early diagnosis of genetic eye diseases as well as help the geneticists in understaning the basic concepts. It will also be useful for students who are preparing for MD, MS, DNB and FRCS examinations.



Clinical Ophthalmic Genetics And Genomics


Clinical Ophthalmic Genetics And Genomics
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Author : Graeme C.M. Black
language : en
Publisher: Academic Press
Release Date : 2022-01-18

Clinical Ophthalmic Genetics And Genomics written by Graeme C.M. Black and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-01-18 with Medical categories.


Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders. A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room