Ophthalmic Genetic Disease

Author : Graeme C.M. Black
Publisher : Elsevier
ISBN 13 : 0128139447
Total Pages : 490 pages
Book Rating : 4.48/5 ( download)

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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

Author : Natario L. Couser
Publisher :
ISBN 13 : 9780323654142
Total Pages : 0 pages
Book Rating : 4.42/5 ( download)

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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.

Author : Elias I. Traboulsi
Publisher : OUP USA
ISBN 13 : 0195326148
Total Pages : 940 pages
Book Rating : 4.47/5 ( download)

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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.

Author : Natario L. Couser
Publisher : Elsevier Health Sciences
ISBN 13 : 0323654150
Total Pages : 198 pages
Book Rating : 4.59/5 ( download)

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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 198 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.

Author : Xiaoyi Raymond Gao
Publisher : Academic Press
ISBN 13 : 0128167270
Total Pages : 383 pages
Book Rating : 4.74/5 ( download)

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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 383 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

Author : Elias I. Traboulsi M.D.
Publisher : Oxford University Press
ISBN 13 : 0190291060
Total Pages : 272 pages
Book Rating : 4.68/5 ( download)

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Download or read book A Compendium of Inherited Disorders and the Eye written by Elias I. Traboulsi M.D. and published by Oxford University Press. This book was released on 2005-12-01 with total page 272 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Graeme C.M. Black
Publisher : Academic Press
ISBN 13 : 0128139455
Total Pages : 492 pages
Book Rating : 4.55/5 ( download)

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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

Author : H. V. Nema
Publisher : Springer Nature
ISBN 13 : 9811642478
Total Pages : 210 pages
Book Rating : 4.70/5 ( download)

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Download or read book Genetics of Ocular Diseases written by H. V. Nema and published by Springer Nature. This book was released on 2022-03-11 with total page 210 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : B. Wissinger
Publisher : Karger Medical and Scientific Publishers
ISBN 13 : 3805575785
Total Pages : 230 pages
Book Rating : 4.82/5 ( download)

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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.

Author : Graeme C. M. Black
Publisher : Remedica Publishing
ISBN 13 : 9781901346206
Total Pages : 0 pages
Book Rating : 4.0X/5 ( download)

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Download or read book Genetics for Ophthalmologists written by Graeme C. M. Black and published by Remedica Publishing. This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.