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Advances in Vision Research, Volume III

Advances in Vision Research, Volume III
Author: Gyan Prakash
Publisher: Springer Nature
Total Pages: 478
Release: 2021-02-18
Genre: Medical
ISBN: 9811591849

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This third volume, with three supporting editors, broadens its focus on genetic eye research from the Asian to the global scale. New efforts and a new awareness have sparked important discussions on genetic eye research, and new plans are being implemented to identify the genes responsible for numerous eye diseases. The book introduces the latest findings on genetics in eye diseases, gene therapy, and genome-wide association analysis, and the efforts of the Global Eye Genetic Consortium (GEGC). The book’s editors have been instrumental in developing strategies for discovering the new genes involved in many eye diseases. All chapters were written by leading researchers working on eye genetics from the fields of Human Genetics, Ophthalmology, Molecular Biology, Biochemistry, Sensory Sciences, and Clinical Research. Advances in Vision Research, Volume III is a major resource for all researchers, clinicians, clinical researchers, and allied eye health professionals with an interest in eye diseases around the globe.


Genetics of Ocular Diseases

Genetics of Ocular Diseases
Author: H. V. Nema
Publisher: Springer Nature
Total Pages: 210
Release: 2022-03-11
Genre: Medical
ISBN: 9811642478

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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.


Macular Dystrophies

Macular Dystrophies
Author: Giuseppe Querques
Publisher: Springer
Total Pages: 128
Release: 2016-02-15
Genre: Medical
ISBN: 3319266217

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​This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest treatment options, including still experimental therapies. Attention is also devoted to a range of issues that continue to be debated. The editors have taken care to ensure that chapters are of a uniformly high standard while not sacrificing the originality of the individual authors. Macular Dystrophies will fully acquaint the reader with both the latest research findings and the current and emerging approaches to diagnosis and treatment.


Age-related Macular Degeneration

Age-related Macular Degeneration
Author: Emily Y. Chew
Publisher: Springer Nature
Total Pages: 314
Release: 2021-04-13
Genre: Medical
ISBN: 3030660141

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This edited book focuses on the recent advances in our understanding of age-related macular degeneration (AMD), combining epidemiology and clinical diagnosis, with genetics and immunological aspects as well as the role of proteostasis and mitochondria before diving into new therapies including stem cell based approaches. AMD is a leading cause of largely incurable blindness worldwide and projected to double from 2.07 million to 5.44 million individuals by 2050 in the United States. Globally, 288 million individuals are projected to have AMD by 2040. The disease has enormous socioeconomic impact on the affected individuals, their families and the society. This book will bring together the state of the art basic science knowledge with clinically relevant findings and address the challenges for future research in AMD. The intersection of different disciplines will provide potential areas for further investigations to reduce the burden of blindness from AMD. This book offers an appealing and insightful resource for clinicians, scientists, students and fellows.


Genomic Disorders

Genomic Disorders
Author: James R. Lupski
Publisher: Springer Science & Business Media
Total Pages: 419
Release: 2007-11-10
Genre: Medical
ISBN: 1597450391

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A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.


Genetic Diseases of the Eye

Genetic Diseases of the Eye
Author: Elias I. Traboulsi
Publisher: OUP USA
Total Pages: 940
Release: 2012-01-12
Genre: Medical
ISBN: 0195326148

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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.


Genetics and Genomics of Eye Disease

Genetics and Genomics of Eye Disease
Author: Xiaoyi Raymond Gao
Publisher: Academic Press
Total Pages: 383
Release: 2019-09-12
Genre: Science
ISBN: 0128167270

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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


Age-related Macular Degeneration

Age-related Macular Degeneration
Author: D. Virgil Alfaro
Publisher: Lippincott Williams & Wilkins
Total Pages: 396
Release: 2006
Genre: Medical
ISBN: 0781738997

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A renowned group of retina surgeons presents promising new developments in age-related macular degeneration, with emphasis on the most significant advances in the past five years. Content addresses all aspects of management, including anatomy, physiology, and pathophysiology; imaging of the macula in age-related macular degeneration; prevention measures and treatment; treatment; and future directions. Abundantly illustrated and superbly organized, this book serves as an excellent reference and textbook.


Webvision

Webvision
Author: Helga Kolb
Publisher:
Total Pages:
Release: 2007
Genre:
ISBN:

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Genetics in Ophthalmology

Genetics in Ophthalmology
Author: B. Wissinger
Publisher: Karger Medical and Scientific Publishers
Total Pages: 230
Release: 2003-01-01
Genre: Medical
ISBN: 3805575785

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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.