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Ophthalmic Genetic Diseases

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Genetic Diseases of the Eye

Genetic Diseases of the Eye Book
Author : Elias I. Traboulsi
Publisher : OUP USA
Release : 2011-12-29
ISBN : 0195326148
Language : En, Es, Fr & De

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Book Description :

This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.

Ophthalmic Genetic Disease

Ophthalmic Genetic Disease Book
Author : Natario L. Couser
Publisher : Elsevier Health Sciences
Release : 2018-09-22
ISBN : 0323654150
Language : En, Es, Fr & De

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Book Description :

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.

Wills Eye Handbook of Ocular Genetics

Wills Eye Handbook of Ocular Genetics Book
Author : Alex V. Levin,Mario Zanolli,Jenina E. Capasso
Publisher : Thieme
Release : 2017-11-21
ISBN : 1626232946
Language : En, Es, Fr & De

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Book Description :

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.

Ophthalmic Genetic Diseases

Ophthalmic Genetic Diseases Book
Author : Natario L. Couser
Publisher : Elsevier
Release : 2018-09-24
ISBN : 9780323654142
Language : En, Es, Fr & De

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Book Description :

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

Genetic Diseases of the Eye

Genetic Diseases of the Eye Book
Author : Elias I. Traboulsi, MD
Publisher : Oxford University Press
Release : 2011-06-01
ISBN : 0199716978
Language : En, Es, Fr & De

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Book Description :

This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.

A Compendium of Inherited Disorders and the Eye

A Compendium of Inherited Disorders and the Eye Book
Author : Elias I. Traboulsi M.D.
Publisher : Oxford University Press
Release : 2005-12-01
ISBN : 0190291060
Language : En, Es, Fr & De

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Book Description :

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.

Molecular Genetics of Inherited Eye Disorders

Molecular Genetics of Inherited Eye Disorders Book
Author : Alan F. Wright
Publisher : CRC Press
Release : 1994-12-01
ISBN : 9783718654932
Language : En, Es, Fr & De

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Book Description :

Molecular Genetics of Inherited Eye Disorders provides an authoritative and up-to-date account of molecular genetic advances in a wide spectrum of genetic eye disorders, and forms the second volume in the Modern Genetics book series. The field has produced some dramatic and often unexpected findings in recent years ranging from the elegant unravelling of the molecular basis of colour vision defects to the subtle complexity of the retinoblastoma gene. The role of crystallins in congenital cataract and of the rhodopsin molecule in retinitis pigmentosa are discussed, illustrating the importance of the candidate gene approach to genetic eye disease. Reverse genetic approaches to the cloning of genes responsible for aniridia and choroideremia exemplify the power of the new genetic techniques and signal the start of the next experimental phase, in which the functional characterization of identified genes begins.

Ocular Syndromes and Systemic Diseases

Ocular Syndromes and Systemic Diseases Book
Author : Frederick Hampton Roy
Publisher : JP Medical Ltd
Release : 2013-11-30
ISBN : 9350255200
Language : En, Es, Fr & De

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Book Description :

This new edition is a comprehensive guide to ocular syndromes and systemic diseases, for clinicians. Presented alphabetically for quick reference, the book covers over 1600 common and uncommon syndromes, systemic diseases and inherited disorders. General, clinical and ocular manifestations are described in depth for each disease or disorder, assisting clinicians in making an accurate diagnosis based on presentation and symptoms. Written by internationally recognised expert, Frederick Hampton Roy, the fifth edition has been fully updated to provide the most recent developments and thinking in the field. Key points Comprehensive guide to ocular syndromes and systemic diseases Presents alphabetically, more than 1600 common and uncommon disorders and diseases Written by internationally recognised expert, Frederick Hampton Roy Previous edition published in 2008

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics Book
Author : Graeme Black,Jane Ashworth,Panagiotis I. Sergouniotis
Publisher : Academic Press
Release : 2021-11-01
ISBN : 0128139455
Language : En, Es, Fr & De

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Book Description :

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.

Genetics for Ophthalmologists

Genetics for Ophthalmologists Book
Author : Graeme Black
Publisher : Remedica Pub Limited
Release : 2002
ISBN : 9781901346206
Language : En, Es, Fr & De

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Book Description :

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 Book
Author : H. V. Nema,Nitin Nema
Publisher : Springer
Release : 2021-11-19
ISBN : 9789811642463
Language : En, Es, Fr & De

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Book Description :

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.

Genetic Eye Diseases

Genetic Eye Diseases Book
Author : Edward Cotlier,Irene H. Maumenee,Elaine R. Berman
Publisher : Unknown
Release : 1982
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Eye Diseases book written by Edward Cotlier,Irene H. Maumenee,Elaine R. Berman, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Ophthalmic Genetics

Ophthalmic Genetics Book
Author : Anonim
Publisher : Unknown
Release : 2006
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Ophthalmic Genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Garner and Klintworth s Pathobiology of Ocular Disease Third Edition

Garner and Klintworth s Pathobiology of Ocular Disease  Third Edition Book
Author : Gordon K. Klintworth,Alec Garner
Publisher : CRC Press
Release : 2008-03-27
ISBN : 9780849398162
Language : En, Es, Fr & De

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Book Description :

Moving from a standard clinical reference Garner and Klintworth's Third Edition of Pathobiology of Ocular Disease is now modeled to be both a scientific research tool and a quick reference option for the practicing ophthalmologist, ophthalmic pathologist, optometrist and vision scientist. With the addition of ten new chapters, this edition focuses its attention on the causes and mechanisms of ocular disease, and is on the forefront of the latest discoveries, research methods, and the current on-going research in ocular disease.

Advances in Ophthalmic Genetics and Heritable Eye Diseases

Advances in Ophthalmic Genetics and Heritable Eye Diseases Book
Author : Frederick A. Jakobiec
Publisher : Little, Brown Medical Division
Release : 1993-01-01
ISBN : 9780316455961
Language : En, Es, Fr & De

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Book Description :

Download Advances in Ophthalmic Genetics and Heritable Eye Diseases book written by Frederick A. Jakobiec, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Pediatric Ophthalmology Neuro Ophthalmology Genetics

Pediatric Ophthalmology  Neuro Ophthalmology  Genetics Book
Author : Birgit Lorenz,Michael C. Brodsky
Publisher : Springer Science & Business Media
Release : 2010-02-05
ISBN : 9783540858515
Language : En, Es, Fr & De

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Book Description :

The 8 recurring volumes of the "Essentials in Ophthalmology" series cover the most recent developments in one of eight subspecialties in Ophthalmology. With four volumes published per year, each subspecialty is newly visited every 24 months, with a distinct focus on recent developments. By bridging the gap between original research and medical textbooks, the transfer of this developing knowledge into daily practice is greatly enhanced.

Genetics of Eye Diseases

Genetics of Eye Diseases Book
Author : Chitra Kannabiran
Publisher : Springer
Release : 2019-07-22
ISBN : 9811371466
Language : En, Es, Fr & De

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Book Description :

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 different genetic etiologies. The genetics of eye diseases is a field that has been rapidly growing over the last two decades, and comprises a vast area with considerable clinical and genetic heterogeneity. The main goal of this work is to discuss the status quo of genetics for each of the disorders covered, and to highlight unusual or atypical patterns of inheritance and genetic associations. For each relevant gene, it describes the pathogenic associations and variants, genotype-phenotype correlations, and functions at the cellular and molecular level. Genetics of Eye Diseases offers a valuable reference guide for geneticists and clinicians alike, while also providing a comprehensive overview of the field for graduate and doctoral-level students. In addition to sharing essential information on the genetics of each disease, it highlights recent advances that are representative of the developments in the field as a whole.

Ophthalmic Paediatrics and Genetics

Ophthalmic Paediatrics and Genetics Book
Author : Anonim
Publisher : Unknown
Release : 1993
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Ophthalmic Paediatrics and Genetics book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Ophthalmic Genetics

Ophthalmic Genetics Book
Author : Arnold Sorsby
Publisher : Unknown
Release : 1970
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Ophthalmic Genetics book written by Arnold Sorsby, available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.

Genetic Eye Diseases

Genetic Eye Diseases Book
Author : Anonim
Publisher : Unknown
Release : 1982
ISBN : 0987650XXX
Language : En, Es, Fr & De

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Book Description :

Download Genetic Eye Diseases book written by , available in PDF, EPUB, and Kindle, or read full book online anywhere and anytime. Compatible with any devices.