Author: Graeme C.M. Black
Publisher: Elsevier
Published: 2022-01-20
Total Pages: 490
ISBN-13: 0128139447
DOWNLOAD EBOOK →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: Xiaoyi Raymond Gao
Publisher: Academic Press
Published: 2019-09-12
Total Pages: 383
ISBN-13: 0128167270
DOWNLOAD EBOOK →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: B. Wissinger
Publisher: Karger Medical and Scientific Publishers
Published: 2003-01-01
Total Pages: 230
ISBN-13: 3805575785
DOWNLOAD EBOOK →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: Elias I. Traboulsi
Publisher: OUP USA
Published: 2012-01-12
Total Pages: 940
ISBN-13: 0195326148
DOWNLOAD EBOOK →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: H. V. Nema
Publisher: Springer Nature
Published: 2022-03-11
Total Pages: 210
ISBN-13: 9811642478
DOWNLOAD EBOOK →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: Graeme C. M. Black
Publisher: Remedica Publishing
Published: 2002
Total Pages: 0
ISBN-13: 9781901346206
DOWNLOAD EBOOK →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.
Author: Alex V. Levin
Publisher: Thieme
Published: 2017-11-21
Total Pages: 307
ISBN-13: 1626232946
DOWNLOAD EBOOK →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.