Ophthalmic Genetics

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Clinical Ophthalmic Genetics and Genomics

Author : Graeme C.M. Black
Publisher : Elsevier
ISBN 13 : 0128139447
Total Pages : 490 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Clinical Ophthalmic Genetics and Genomics by : Graeme C.M. Black

Download or read book Clinical Ophthalmic Genetics and Genomics written by Graeme C.M. Black and published by Elsevier. This book was released on 2022-01-20 with total page 490 pages. Available in PDF, EPUB and Kindle. Book excerpt: Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

Ophthalmic Genetic Diseases

Author : Natario L. Couser
Publisher :
ISBN 13 : 9780323654142
Total Pages : 0 pages
Book Rating : 4.6/5 (541 download)

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Book Synopsis Ophthalmic Genetic Diseases by : Natario L. Couser

Download or read book Ophthalmic Genetic Diseases written by Natario L. Couser and published by . This book was released on 2018-09-24 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides current, clinically focused information on more than 400 genetic eye diseases.

Genetics in Ophthalmology

Author : B. Wissinger
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805575785
Total Pages : 230 pages
Book Rating : 4.8/5 (55 download)

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Book Synopsis Genetics in Ophthalmology by : B. Wissinger

Download or read book Genetics in Ophthalmology written by B. Wissinger and published by Karger Medical and Scientific Publishers. This book was released on 2003-01-01 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Diseases of the Eye

Author : Elias I. Traboulsi
Publisher : OUP USA
ISBN 13 : 0195326148
Total Pages : 940 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi

Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Author : Graeme C.M. Black
Publisher : Academic Press
ISBN 13 : 0128139455
Total Pages : 492 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Clinical Ophthalmic Genetics and Genomics by : Graeme C.M. Black

Download or read book Clinical Ophthalmic Genetics and Genomics written by Graeme C.M. Black and published by Academic Press. This book was released on 2022-01-18 with total page 492 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

The Eye

Author : John V. Forrester
Publisher : Elsevier Health Sciences
ISBN 13 : 0702055549
Total Pages : 660 pages
Book Rating : 4.7/5 (2 download)

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Book Synopsis The Eye by : John V. Forrester

Download or read book The Eye written by John V. Forrester and published by Elsevier Health Sciences. This book was released on 2015-06-01 with total page 660 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Eye: Basic Sciences in Practice provides highly accessible, concise coverage of all the essential basic science required by today's ophthalmologists and optometrists in training. It is also essential reading for those embarking on a career in visual and ophthalmic science, as well as an invaluable, current refresher for the range of practitioners working in this area. This new fourth edition has now been fully revised and updated in line with current curricula, key research developments and clinical best practice. It succinctly incorporates the massive strides being made by genetics and functional genomics based on the Human Genome Project, the new understanding of how the microbiome affects all aspects of immunology, the remarkable progress in imaging technology now applied to anatomy and neurophysiology, as well as exciting new molecular and other diagnostic methodologies now being used in microbiology and pathology. All this and more collectively brings a wealth of new knowledge to students and practitioners in the fields of ophthalmology and visual science. For the first time, this (print) edition also now comes with bonus access to the complete, fully searchable electronic text - including carefully selected additional information and new video content to further explain and expand on key concepts - making The Eye a more flexible, comprehensive and engaging learning package than ever before. The only all-embracing textbook of basic science suitable for trainee ophthalmologists, optometrists and vision scientists - other books concentrate on the individual areas such as anatomy. Attractive page design with clear, colour diagrams and text boxes make this a much more accessible book to learn from than many postgraduate textbooks. Presents in a readable form an account of all the basic sciences necessary for an understanding of the eye - anatomy, embryology, genetics, biochemistry, physiology, pharmacology, immunology, microbiology and infection and pathology. More on molecular pathology. Thorough updating of the sections on pathology, immunology, pharmacology and immunology. Revision of all other chapters. More colour illustrations Comes with complete electronic version

Ophthalmic Genetic Disease

Author : Natario L. Couser
Publisher : Elsevier Health Sciences
ISBN 13 : 0323654150
Total Pages : 199 pages
Book Rating : 4.3/5 (236 download)

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Book Synopsis Ophthalmic Genetic Disease by : Natario L. Couser

Download or read book Ophthalmic Genetic Disease written by Natario L. Couser and published by Elsevier Health Sciences. This book was released on 2018-09-22 with total page 199 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Vaughan & Asbury's General Ophthalmology

Author : Paul Riordan-Eva
Publisher : McGraw Hill Professional
ISBN 13 : 0071593209
Total Pages : 486 pages
Book Rating : 4.0/5 (715 download)

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Book Synopsis Vaughan & Asbury's General Ophthalmology by : Paul Riordan-Eva

Download or read book Vaughan & Asbury's General Ophthalmology written by Paul Riordan-Eva and published by McGraw Hill Professional. This book was released on 2007-11-08 with total page 486 pages. Available in PDF, EPUB and Kindle. Book excerpt: The classic reference covering the diagnosis and treatment of all major ophthalmic diseases, as well as neurological and systemic diseases causing visual disturbance-extensively revised and updated Features State-of-the-art coverage of diagnostic techniques and therapeutic interventions for the full range of ophthalmic disorders Chapters dedicated to ophthalmic therapeutics, neuro-ophthalmology, ocular disorders associated with systemic diseases, immunologic diseases of the eye, pediatrics, genetics, preventive ophthalmology and lasers The latest clinical perspectives on such topics as: Treatments for age-related macular degeneration, including anti-VEGF therapies Intraocular steroid injections for retinal diseases Immunomodulatory drugs Treatment of corneal infections Medical and surgical treatments for glaucoma Detailed appendices on visual standards, practical factors in illumination, rehabilitation of the visually handicapped, and special services available to the blind Latest references

WHO Classification of Tumours of the Eye

Author : Hans E. Grossniklaus
Publisher : International Agency for Research on Cancer
ISBN 13 : 9789283244974
Total Pages : 0 pages
Book Rating : 4.2/5 (449 download)

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Book Synopsis WHO Classification of Tumours of the Eye by : Hans E. Grossniklaus

Download or read book WHO Classification of Tumours of the Eye written by Hans E. Grossniklaus and published by International Agency for Research on Cancer. This book was released on 2018-12-06 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The WHO Classification of Tumours of the Eye is the 12th and final volume in the 4th edition of the WHO series on the classification of human tumors. The series (also known as the Blue Books) has long been regarded by pathologists as the gold standard for the diagnosis of tumors, and it is an indispensable guide for the design of evaluations, clinical trials, and studies involving cancer. These authoritative and concise reference books provide an international standard for anyone involved in cancer research or the care of cancer patients. Diagnostic criteria, pathological features, and genetic and other associated molecular alterations are described in a disease-oriented manner. This volume updates the existing ICD-O codes and provides new codes for use in epidemiology and cancer registration. It also provides information on clinical features, pathology, genetics, programs, and protective factors for each of the tumor types covered. The editors expect that this volume will be of particular interest to pathologists, oncologists, and ophthalmologists who manage or research tumors of the eye. Sections are included on all recognized neoplasms (and their variants) of the eye, lacrimal apparatus, and conjunctiva. There have been particularly substantial changes to the classification of conjunctival neoplasia and melanoma, based on the latest information from genetic and molecular studies. An e-book version of this title is also available. If you have already purchased the print product and wish to have the e-version as well, IARC is offering special top-up pricing. Proof of purchase will be required for customers to avail themselves of this order.

Genetics and Genomics of Eye Disease

Author : Xiaoyi Raymond Gao
Publisher : Academic Press
ISBN 13 : 0128167270
Total Pages : 386 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Genetics and Genomics of Eye Disease by : Xiaoyi Raymond Gao

Download or read book Genetics and Genomics of Eye Disease written by Xiaoyi Raymond Gao and published by Academic Press. This book was released on 2019-09-12 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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

Animal Models in Eye Research

Author :
Publisher : Academic Press
ISBN 13 : 0080921035
Total Pages : 230 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Animal Models in Eye Research by :

Download or read book Animal Models in Eye Research written by and published by Academic Press. This book was released on 2011-04-28 with total page 230 pages. Available in PDF, EPUB and Kindle. Book excerpt: The eye is a complex sensory organ, which enables visual perception of the world. Thus the eye has several tissues that do different tasks. One of the most basic aspects of eye function is the sensitivity of cells to light and its transduction though the optic nerve to the brain. Different organisms use different ways to achieve these tasks. In this sense, eye function becomes a very important evolutionary aspect as well. This book presents the different animal models that are commonly used for eye research and their uniqueness in evaluating different aspects of eye development, evolution, physiology and disease. - Presents information on the major animal models used in eye research including invertebrates and vertebrates - Provides researchers with information needed to choose between model organisms - Includes an introductory chapter on the different types of eyes, stressing possible common molecular machinery

Ophthalmic Histopathology

Author : W.R. Lee
Publisher : Springer Science & Business Media
ISBN 13 : 1447139100
Total Pages : 475 pages
Book Rating : 4.4/5 (471 download)

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Book Synopsis Ophthalmic Histopathology by : W.R. Lee

Download or read book Ophthalmic Histopathology written by W.R. Lee and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 475 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first edition of this book was written prior to 1991 and it seemed appropriate to revise and update the text in view of the rapid expansion in information which has occurred in the last decade. Furthermore, in the first edition, the reproduction of some of the illustrations was not of sufficient standard to be of value to the reader. Accordingly some of the inadequate figures have been replaced by colour figures which have been inserted into the text. Colour has also been included because many histopathological illustrations, e. g. special stains such as Gram, PAS, trichrome stains etc. , and immunohistochemical reactions, are much better appreciated. With regard to references, I have taken advantage of the currently available access to all the medical literat ure, which is what I anticipate will be the course of action of the reader. Glasgow, 2001 Acknowledgements It is a pleasure to re cord the support I have received in the last decade from Professors Wallace Foulds, Colin Kirkness and Gordon Dutton and from Mr Bertil Damato in their continuing efforts to educate me in the subtleties of clinical ophthalmology. I am particularly indebted to Dr Sarah Coupland who provided the information on lymphoid neoplasia which is included in this book and I must thank Dr Weng Sehu who established the computer equipment which has been so valuable in the preparation of the new illustrations.

Advances in Vision Research, Volume II

Author : Gyan Prakash
Publisher : Springer
ISBN 13 : 9811308845
Total Pages : 464 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Advances in Vision Research, Volume II by : Gyan Prakash

Download or read book Advances in Vision Research, Volume II written by Gyan Prakash and published by Springer. This book was released on 2018-11-03 with total page 464 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Inherited Chorioretinal Dystrophies

Author : Bernard Puech
Publisher : Springer
ISBN 13 : 3540694668
Total Pages : 501 pages
Book Rating : 4.5/5 (46 download)

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Book Synopsis Inherited Chorioretinal Dystrophies by : Bernard Puech

Download or read book Inherited Chorioretinal Dystrophies written by Bernard Puech and published by Springer. This book was released on 2014-07-19 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Ophthalmic Genetics

Author :
Publisher :
ISBN 13 :
Total Pages : 628 pages
Book Rating : 4.:/5 ( download)

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Book Synopsis Ophthalmic Genetics by :

Download or read book Ophthalmic Genetics written by and published by . This book was released on 2000 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Ophthalmic Genetics

Author : Arnold Sorsby
Publisher : Butterworth-Heinemann
ISBN 13 :
Total Pages : 300 pages
Book Rating : 4.:/5 (4 download)

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Book Synopsis Ophthalmic Genetics by : Arnold Sorsby

Download or read book Ophthalmic Genetics written by Arnold Sorsby and published by Butterworth-Heinemann. This book was released on 1970 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Retinal Degenerative Diseases

Author : Matthew M. LaVail
Publisher : Springer Science & Business Media
ISBN 13 : 1461406315
Total Pages : 867 pages
Book Rating : 4.4/5 (614 download)

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Book Synopsis Retinal Degenerative Diseases by : Matthew M. LaVail

Download or read book Retinal Degenerative Diseases written by Matthew M. LaVail and published by Springer Science & Business Media. This book was released on 2011-12-21 with total page 867 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy.