Ophthalmic Genetic Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Ophthalmic Genetic Diseases write by Natario L. Couser. This book was released on 2018-09-24. Ophthalmic Genetic Diseases available in PDF, EPUB and Kindle. This book provides current, clinically focused information on more than 400 genetic eye diseases.
Clinical Ophthalmic Genetics and Genomics
Clinical Ophthalmic Genetics and Genomics - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Clinical Ophthalmic Genetics and Genomics write by Graeme C.M. Black. This book was released on 2022-01-20. Clinical Ophthalmic Genetics and Genomics available in PDF, EPUB and Kindle. 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
Genetics in Ophthalmology
Genetics in Ophthalmology - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Genetics in Ophthalmology write by B. Wissinger. This book was released on 2003-01-01. Genetics in Ophthalmology available in PDF, EPUB and Kindle. 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
Genetic Diseases of the Eye - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Genetic Diseases of the Eye write by Elias I. Traboulsi. This book was released on 2012-01-12. Genetic Diseases of the Eye available in PDF, EPUB and Kindle. 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.
A Compendium of Inherited Disorders and the Eye
A Compendium of Inherited Disorders and the Eye - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook A Compendium of Inherited Disorders and the Eye write by Elias I. Traboulsi M.D.. This book was released on 2005-12-01. A Compendium of Inherited Disorders and the Eye available in PDF, EPUB and Kindle. 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.
