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Ophthalmic Genetic Diseases

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Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease Book
Author : Xiaoyi Raymond Gao
Publisher : Academic Press
Release : 2019-09-12
ISBN : 0128167270
Language : En, Es, Fr & De

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Book Description :

Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. Offers thorough guidance on conducting genetic and genomic studies of eye disease Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Genetic Diseases of the Eye

Genetic Diseases of the Eye Book
Author : Elias I. Traboulsi
Publisher : OUP USA
Release : 2012-01-12
ISBN : 0195326148
Language : En, Es, Fr & De

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Book Description :

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.

Clinical Ophthalmic Genetics and Genomics

Clinical Ophthalmic Genetics and Genomics Book
Author : Graeme C.M. Black,Jane L. Ashworth,Panagiotis I. Sergouniotis
Publisher : Academic Press
Release : 2022-01-18
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

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.

Genetics in Ophthalmology

Genetics in Ophthalmology Book
Author : B. Wissinger,Susanne Kohl,U. Langenbeck
Publisher : Karger Medical and Scientific Publishers
Release : 2003-01-01
ISBN : 3805575785
Language : En, Es, Fr & De

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Book Description :

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.

Genetics of Ocular Diseases

Genetics of Ocular Diseases Book
Author : H. V. Nema,Nitin Nema
Publisher : Springer
Release : 2022-03-11
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.

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.

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.

Advances in Vision Research Volume II

Advances in Vision Research  Volume II Book
Author : Gyan Prakash,Takeshi Iwata
Publisher : Springer
Release : 2018-11-03
ISBN : 9811308845
Language : En, Es, Fr & De

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Book Description :

This second volume continues with a focus on the state of the art in genetic eye research in Asia and the Pacific. Though there has been an explosion of information on genetic eye research in western countries, more than sixty percent of the human genes involved in eye diseases in the Asian and Pacific population remain unknown. However, new efforts and a new awareness have sparked important discussions on the subject, and new plans are being implemented to discover the genes responsible for many eye diseases in the population. The book reviews the latest findings; its content ranges from genetic aspects of human migration to DNA sequence analysis, genome-wide association analysis, and disease phenotypes. The efforts of the Asian Eye Genetic Consortium (AEGC) are also discussed. The book’s editors have been instrumental in developing strategies for discovering the new Asian genes involved in many eye diseases. All chapters were written by leading researchers working on Asian eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume II will prove to be a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases among the Asian population.

Ocular Surface Diseases

Ocular Surface Diseases Book
Author : Dorota Kopacz
Publisher : BoD – Books on Demand
Release : 2021-01-07
ISBN : 1838809597
Language : En, Es, Fr & De

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Book Description :

The ocular surface refers to the cornea, conjunctiva, lacrimal glands, and lid of the eye. It is composed of the mucosa that lines the globe and palpebrae, the corneoscleral limbus, the corneal epithelium, and the tear film. This book focuses on the tear film, describing its physiology, dynamics, and role in maintaining the health of the ocular surface. It also examines keratoconus, a condition affecting both the preocular tear film and the ocular surface in which the cornea thins and bulges outward, as well as recent possibilities in molecular genetics.

Macular Dystrophies

Macular Dystrophies Book
Author : Giuseppe Querques,Eric Souied
Publisher : Springer
Release : 2016-02-15
ISBN : 3319266217
Language : En, Es, Fr & De

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Book Description :

​This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest treatment options, including still experimental therapies. Attention is also devoted to a range of issues that continue to be debated. The editors have taken care to ensure that chapters are of a uniformly high standard while not sacrificing the originality of the individual authors. Macular Dystrophies will fully acquaint the reader with both the latest research findings and the current and emerging approaches to diagnosis and treatment.

Genetics of Ocular Diseases

Genetics of Ocular Diseases Book
Author : H. V. Nema,Nitin Nema
Publisher : Springer Nature
Release : 2022-03-11
ISBN : 9811642478
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.

Inherited Chorioretinal Dystrophies

Inherited Chorioretinal Dystrophies Book
Author : Bernard Puech,Jean-Jacques De Laey,Graham E. Holder
Publisher : Springer
Release : 2014-07-19
ISBN : 3540694668
Language : En, Es, Fr & De

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Book Description :

This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.

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.

Atlas of X Linked Intellectual Disability Syndromes

Atlas of X Linked Intellectual Disability Syndromes Book
Author : Roger E. Stevenson,Charles E. Schwartz,R. Curtis Rogers,Richard Curtis Rogers
Publisher : Oxford University Press
Release : 2012-07-12
ISBN : 0199811792
Language : En, Es, Fr & De

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Book Description :

The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.

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.

Diagnostic Procedures in Ophthalmology

Diagnostic Procedures in Ophthalmology Book
Author : HV Nema,Nitin Nema
Publisher : JP Medical Ltd
Release : 2014-05-30
ISBN : 9350908522
Language : En, Es, Fr & De

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Book Description :

New edition presenting latest developments in ophthalmic diagnostic procedures. Fully revised and many new chapters. Previous edition published in 2009.

Epidemiology Of Eye Disease The Third Edition

Epidemiology Of Eye Disease  The  Third Edition  Book
Author : Johnson Gordon J,Minassian Darwin C,Weale Robert A,West Sheila K
Publisher : World Scientific
Release : 2012-03-13
ISBN : 1911299514
Language : En, Es, Fr & De

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Book Description :

This unique book is a comprehensive coverage of the epidemiology of the world's major blinding eye diseases, written by internationally acclaimed experts in each field. Edited by world-renowned epidemiologists and ophthalmologists, the chapters on each leading cause of blindness describe its biology, epidemiology, risk factors, clinical trials, possibilities for prevention, and new research avenues. New chapters include Research Synthesis, Epidemiology of Dry Eye Disease, and Epidemiology of Uveitis, as well as programme issues for reaching the goal of eliminating avoidable blindness by 2020.This book is essential for any eye care practitioner interested in the causation or prevention of disease, and should be part of any public health discipline's library with a focus on improving eye health worldwide.

Molecular Biology of Eye Disease

Molecular Biology of Eye Disease Book
Author : Anonim
Publisher : Academic Press
Release : 2015-08-13
ISBN : 0128012676
Language : En, Es, Fr & De

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Book Description :

This volume of Progress in Molecular Biology and Translational Science focuses on the molecular biology of eye disease. Contributions from leading authorities Informs and updates on all the latest developments in the field

Handbook of Pediatric Eye and Systemic Disease

Handbook of Pediatric Eye and Systemic Disease Book
Author : Kenneth W. Wright,Peter H. Spiegel,Lisa Thompson
Publisher : Springer Science & Business Media
Release : 2007-05-24
ISBN : 0387279288
Language : En, Es, Fr & De

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Book Description :

Based on Dr. Wright’s classic major reference, Handbook of Pediatric Eye and Systemic Disease outlines the latest findings in diagnosing children's eye diseases and their treatment options. Distilling the essentials of ocular manifestations of systemic disorders and diseases into a portable, complete and authoritative pocket reference, this handbook offers a complete picture of how to best treat pediatric patients. Specifically, the introductory chapters on the specifics of pediatric ophthalmology (embryology, post-natal development and the pediatric exam) will help newcomers to pediatric practice fully grasp the subtle differences in pediatric care. The chapters are written by leading experts in the field and are presented in a user-friendly format, relying on heavily illustrated color plates, clinically helpful tables, charts, and decision-making guidelines. This approach will enable the practitioner (whether specialist or generalist) to make the most accurate diagnosis and choose the most effective treatment option.