Genetic Diseases Of The Eye

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 :
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 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 : 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 : Stephen H. Tsang
Publisher : Springer
ISBN 13 : 3319950460
Total Pages : 274 pages
Book Rating : 4.64/5 ( download)

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Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2018-12-21 with total page 274 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.

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 : Saul Merin
Publisher :
ISBN 13 : 9781574449389
Total Pages : 798 pages
Book Rating : 4.89/5 ( download)

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Download or read book Inherited Eye Diseases written by Saul Merin and published by . This book was released on 2005 with total page 798 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covering the entire spectrum of inherited eye diseases, including retinal degenerative disorders that lead to vision loss, this guide devotes entire chapters to specific diseases such as glaucoma and strabismus-offering clinical descriptions, laboratory tests, methods to confirm diagnoses, and insights into disease pathology, epidemiology, and genetics; studies recently identified genes and the identification and management of new eye disorders; reviews the clinical evaluation, prognostic assessment, and management of inherited eye diseases; and presents chapters according to the affected tissue or disease entity-serving as a quick and easily-accessible guide for busy practitioners and optometrists.

Author : Minzhong Yu
Publisher : Frontiers Media SA
ISBN 13 : 2889743284
Total Pages : 212 pages
Book Rating : 4.85/5 ( download)

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Download or read book Genetic Mutations Associated with Ocular Diseases written by Minzhong Yu and published by Frontiers Media SA. This book was released on 2022-02-04 with total page 212 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Matthew M. LaVail
Publisher : Springer Science & Business Media
ISBN 13 : 1461406315
Total Pages : 867 pages
Book Rating : 4.10/5 ( download)

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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.