Insights into Genetic Retinal Diseases PDF Download

Author: Saber Imani
Publisher: Cambridge Scholars Publishing
ISBN: 1527577368
Category : Medical
Languages : en
Pages : 388

View

Book Description
This book is the definitive guide to cutting-edge research in genetic retinal diseases. This compilation brings together the collective wisdom of leading experts in the field, offering a comprehensive and up-to-date resource that is as enlightening as it is invaluable. The book focuses on next-generation sequencing, a revolutionary technology that has transformed our understanding of retinal diseases, and it delves deep into the intricacies of this rapidly evolving field, unearthing unknown genetic mutations that underlie these conditions and unveiling innovative diagnostic tools and treatments that hold the promise of transforming lives, as well as sharing the latest developments in a field that holds the key to preserving and restoring one of our most precious senses—vision. With a clear writing style, this book is accessible to researchers, clinicians, and anyone with a curiosity for unraveling the mysteries of genetic retinal diseases.

Author: Matthew M. LaVail
Publisher: Springer Science & Business Media
ISBN: 1461406315
Category : Medical
Languages : en
Pages : 867

View

Book Description
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.

Author: Elias I. Traboulsi
Publisher: OUP USA
ISBN: 0195326148
Category : Medical
Languages : en
Pages : 940

View

Book Description
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: Helga Kolb
Publisher:
ISBN:
Category :
Languages : en
Pages :

View

Book Description

Author: Evelyne Sernagor
Publisher: Cambridge University Press
ISBN: 1139459732
Category : Medical
Languages : en
Pages : 369

View

Book Description
This advanced text, first published in 2006, takes a developmental approach to the presentation of our understanding of how vertebrates construct a retina. Written by experts in the field, each of the seventeen chapters covers a specific step in the process, focusing on the underlying molecular, cellular, and physiological mechanisms. There is also a special section on emerging technologies, including genomics, zebrafish genetics, and stem cell biology that are starting to yield important insights into retinal development. Primarily aimed at professionals, both biologists and clinicians working with the retina, this book provides a concise view of vertebrate retinal development. Since the retina is 'an approachable part of the brain', this book will also be attractive to all neuroscientists interested in development, as processes required to build this exquisitely organized system are ultimately relevant to all other parts of the central nervous system.

Author: Stephen H. Tsang
Publisher: Springer
ISBN: 3319950460
Category : Medical
Languages : en
Pages : 262

View

Book Description
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: B. Wissinger
Publisher: Karger Medical and Scientific Publishers
ISBN: 3805575785
Category : Medical
Languages : en
Pages : 230

View

Book Description
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: Tien Y Wong
Publisher:
ISBN: 9781013274091
Category : Medical
Languages : en
Pages : 310

View

Book Description
This book is open access under a CC BY 4.0 license. This open access book discusses basic clinical concepts of myopia, prevention of progression and surgical treatments for myopia and pathological myopia. It also summarises the latest evidence and best practices for managing myopia, high myopia and its complications. Written by leading experts, the book addresses clinical diagnosis and interpretation of imaging modalities, and various complications of myopia such as glaucoma, choroidal neovascularization, retinal degeneration and cataracts. It is a valuable comprehensive resource for general and sub-specialist ophthalmologists as well as residents and ophthalmologists in training.; This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.

Author:
Publisher: Academic Press
ISBN: 0128148802
Category : Science
Languages : en
Pages : 544

View

Book Description
Epigenetics and Regeneration compiles the first foundational reference on epigenetic mechanisms governing tissue development, repair, homeostasis, and regeneration, as well as pathways to employ these mechanisms in clinical practice and translational science. In this book, life science researchers, clinicians, and students will discover an interdisciplinary resource bringing together common themes in the field, background overviews, research methods, recent advances, and opportunities for drug discovery. Throughout this volume, special attention is paid to pre-clinical and first clinical studies aimed at increasing the regenerative potential of damaged tissues by epigenetic drugs, as well as innovative, discipline spanning strategies to enhance cell reprogramming. As an all-inclusive, evidence-based volume, Epigenetics and Regeneration will stimulate discussion and boost new research in this fascinating and impactful area of translational epigenetics. - Provides a foundational overview of epigenetics in regenerative medicine - Examines epigenetic components of tissue regeneration for a variety of organ systems and tissue types, as well as current attempts to employ these mechanisms in clinical practice - Offers researchers, students, clinicians, and pharmacologists the tools they need to enhance tissue development, repair, homeostasis, and regeneration and explore new epigenetic therapeutic pathways - Features chapter contributions from leading international researchers and clinicians in the fields of epigenetics and regenerative medicine

Author: Matthew M. LaVail
Publisher: Springer Science & Business Media
ISBN: 1461500672
Category : Medical
Languages : en
Pages : 458

View

Book Description
The topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration. Special focus is highlighted in the areas of Mechanisms of Photoreceptor Degeneration and Cell Death (extremely important because very little is known how or why photoreceptors die in these diseases, despite an abundance of genetic information), Age-Related Macular Degeneration (with several novel approaches to its analysis), Usher Syndrome (the most severe form of retinitis pigmentosa, which includes an early or congenital loss of hearing along with blindness), and Gene Therapy. In addition, the section on Basic Science Related to Retinal Degeneration is particularly strong with several laboratories reporting on new discoveries in the area of outer segment phagocytosis, a key component of photoreceptor-retinal pigment epithelial cell interactions in normal and degenerating retinas.