Inherited Retinal Diseases

Author : Stephen H. Tsang,Tarun Sharma
Publisher : Springer
Page : 274 pages
File Size : 42,5 Mb
Release : 2018-12-21
Category : Medical
ISBN : 9783319950464

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Atlas of Inherited Retinal Diseases by Stephen H. Tsang,Tarun Sharma Pdf

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 : Hyeong-Gon Yu
Publisher : Springer Nature
Page : 237 pages
File Size : 45,8 Mb
Release : 2022-03-11
Category : Medical
ISBN : 9789811673375

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Inherited Retinal Disease by Hyeong-Gon Yu Pdf

This book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis, clinical features, general principles of treatment, novel treatment methods, and genetic counseling. Recent years have witnessed great advances in understanding of the genetic and cytological background of these diseases. Genetic analysis methods such as next generation sequencing have remarkably reduced the cost and time required for massive analysis of patients’ samples. Studies on gene therapy and stem cell therapy have been successfully carried out in animal models, and gene therapy is now available for Leber congenital amaurosis caused by RPE65 mutations. Against this background, Inherited Retinal Disease will be an invaluable up-to-date resource for ophthalmologists, medical students, and researchers in ocular inflammation. In addition to supplying essential information on each individual disorder, it features many interesting cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.

Author : Juan M. Jiménez-Sierra,Thomas E. Ogden,Gretchen B. Van Boemel
Publisher : Unknown
Page : 312 pages
File Size : 55,8 Mb
Release : 1989
Category : Medical
ISBN : UOM:39015014485109

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Inherited Retinal Diseases by Juan M. Jiménez-Sierra,Thomas E. Ogden,Gretchen B. Van Boemel Pdf

Author : Saber Imani,Junjiang Fu
Publisher : Cambridge Scholars Publishing
Page : 388 pages
File Size : 52,9 Mb
Release : 2024-02-07
Category : Medical
ISBN : 9781527577367

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Insights into Genetic Retinal Diseases by Saber Imani,Junjiang Fu Pdf

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 : Frank G Holz,Richard F. Spaide
Publisher : Springer Science & Business Media
Page : 227 pages
File Size : 53,9 Mb
Release : 2010-03-18
Category : Medical
ISBN : 9783540855408

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Medical Retina by Frank G Holz,Richard F. Spaide Pdf

Recent advances in ophthalmic imaging technology have revolutionized fundus examination and contributed significantly in elucidating the pathophysiology of retinal diseases and improving their diagnosis and treatment. It is therefore fitting that this detailed full-color textbook in the Medical Retina series is devoted to ocular imaging. The volume reviews in detail the role of both established and novel forms of imaging, and is designed to be of benefit to clinicians and researchers alike. All of the chapters have been written by internationally recognized experts at the forefront of their fields. The result is a comprehensive, state-of-the-art overview of retinal imaging that should prove informative and useful for everyone interested in the retina. Topics include: •Spectral domain optical coherence tomography (SD-OCT) of macular diseases •Comparison of OCT equipment •Simultaneous SD-OCT and confocal SLO imaging •Ultra-widefield imaging °Autofluorescence imaging •Near-infrared imaging •Macular pigment imaging •Metabolic mapping •Imaging of the choroid •Imaging the vitreous and the vitreoretinal interface with SD-OCT •New developments in OCT technology •Molecular imaging

Author : Matthew M. LaVail,John Ash,Robert E. Anderson,Joe G. Hollyfield,Christian Grimm
Publisher : Springer Science & Business Media
Page : 867 pages
File Size : 43,7 Mb
Release : 2011-12-21
Category : Medical
ISBN : 9781461406310

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Retinal Degenerative Diseases by Matthew M. LaVail,John Ash,Robert E. Anderson,Joe G. Hollyfield,Christian Grimm Pdf

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 : Bernard Puech,Jean-Jacques De Laey,Graham E. Holder
Publisher : Springer
Page : 488 pages
File Size : 50,5 Mb
Release : 2014-07-19
Category : Medical
ISBN : 9783540694663

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Inherited Chorioretinal Dystrophies by Bernard Puech,Jean-Jacques De Laey,Graham E. Holder Pdf

This lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.

Author : Elias I. Traboulsi
Publisher : OUP USA
Page : 940 pages
File Size : 40,5 Mb
Release : 2012-01-12
Category : Medical
ISBN : 9780195326147

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Genetic Diseases of the Eye by Elias I. Traboulsi Pdf

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 : Giuseppe Querques,Eric Souied
Publisher : Springer
Page : 120 pages
File Size : 48,5 Mb
Release : 2016-02-15
Category : Medical
ISBN : 9783319266213

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Macular Dystrophies by Giuseppe Querques,Eric Souied Pdf

​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.

Author : Mitzy E. Torres Soriano ,Gerardo García Aguirre,Maximiliano Gordon,Veronica Kon Graversen
Publisher : Bentham Science Publishers
Page : 274 pages
File Size : 51,8 Mb
Release : 2017-04-12
Category : Medical
ISBN : 9781681084152

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Diagnostic Atlas of Retinal Diseases by Mitzy E. Torres Soriano ,Gerardo García Aguirre,Maximiliano Gordon,Veronica Kon Graversen Pdf

This 3 volume set offers a comprehensive compilation which presents detailed information about ophthalmic (retinal, vitreous and macular) diseases. Key features of this set include: o Emphasis on practical features of clinical diagnosis o Concise and didactic presentation of key manifestations of diseases designed for rapid reference and target recall o A vast selection of illustrations to sharpen clinical problem-solving skills o Step by step treatment approaches to enhance the reader’s ability to handle medical cases o Citations or relevant research articles in each chapter for further reading The third volume of this set covers eye infections (bacterial and viral), inflammatory disorders and neoplasms. Written by a group of retina specialists, this book is an excellent resource for knowledge about retinal disorders. The streamlined format and evidence based medicine presented in the volume make this book the perfect reference for medical students, residents, general ophthalmologists and retina specialists.

Author : Matthew M. LaVail,Joe G. Hollyfield,Robert E. Anderson
Publisher : Springer Science & Business Media
Page : 421 pages
File Size : 49,7 Mb
Release : 2012-12-06
Category : Medical
ISBN : 9781461559337

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Degenerative Retinal Diseases by Matthew M. LaVail,Joe G. Hollyfield,Robert E. Anderson Pdf

Since 1984, we have organized Satellite Symposia on Retinal Degenerations that are held in conjunction with the biennial International Congress of Eye Research. The timing and location of our Retinal Degeneration Symposia have all owed scientists and clinicians from around the world to convene and present their exciting new findings. The symposia have been arranged to allow ample time for discussions and one-on-one interactions in a relaxed atmos phere, where international friendships and collaborations could be established. The II International Symposium (also known as the Sendai Symposium on Retinal Degeneration) was held in 1986 in Sendai, Japan, on the occasion of the retirement of Kat suyoshi Mizuno as Professor and Chairman of Ophthalmology at Tohoku Medical SchooL On October 5-9, 1996, we returned to Sendai, where the VII International Symposium was held at the Miyagi Zao resort hotel in the beautiful Mt. Zao region of northern Japan. This meeting was held on the occasion of the tenth anniversary of Makoto Tarnai as Pro fessor and Chairman of Ophthalmology at Tohoku Medical School. One afternoon of the meeting contained a special symposium in honor of Professor Tarnai, who has signifi cantly elevated the level and intensity of research on retinal degenerations at his university and in Japan during this past decade.

Author : Jay Chhablani,Jorge Ruiz-Medrano
Publisher : Academic Press
Page : 474 pages
File Size : 55,7 Mb
Release : 2017-05-31
Category : Science
ISBN : 9780128092231

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Choroidal Disorders by Jay Chhablani,Jorge Ruiz-Medrano Pdf

Choroidal Disorders provides an overview on various chorioretinal disorders with a special emphasis on choroidal imaging. As our understanding of the choroid has significantly improved with the development of advanced optical coherence tomography (OCT) and its role in posterior segment diseases is gaining new significance, this book focuses on the related improvements, diagnostic capabilities, management and prognosis of various chorioretinal disorders. It covers conventional techniques, such as ultrasonography and indocyanine green angiography as well as the most advanced techniques, including enhanced depth imaging OCT, swept source OCT, and OCT angiography. Concise overview of various chorioretinal disorders, with special emphasis on choroidal imaging Written for practitioners and researchers in sensory systems (vision), ophthalmologists, and retina specialists Covers the most advanced imaging techniques in choroidal disorders, such as enhanced depth imaging OCT, swept source OCT, and OCT angiography

Author : Noemi Lois,John V. Forrester
Publisher : Lippincott Williams & Wilkins
Page : 303 pages
File Size : 53,5 Mb
Release : 2012-02-13
Category : Medical
ISBN : 9781451152807

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Fundus Autofluorescence by Noemi Lois,John V. Forrester Pdf

Featuring over 250 illustrations, this detailed full-color textbook provides up-to-date information on the use of fundus autofluorescence imaging in evaluation of retinal disease. Chapters describe the techniques available to image and quantify fundus autofluorescence and the autofluorescence patterns observed in the healthy eye and in various retinal diseases. Emphasis is on the value of fundus autofluorescence as a diagnostic and prognostic tool and its clinical utility in the context of other imaging techniques, such as fluorescein and indocyanine green angiography and optical coherence tomography. Each chapter also discusses the value of fundus autofluorescence in understanding the pathogenesis of the condition, and provides a comprehensive update on all aspects of the condition. A companion Website will offer the fully searchable text and an image bank.

Author : Rob W J Collin,Alejandro Garanto
Publisher : Unknown
Page : 262 pages
File Size : 51,9 Mb
Release : 2020-10-07
Category : Electronic
ISBN : 3039431765

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Molecular Therapies for Inherited Retinal Diseases by Rob W J Collin,Alejandro Garanto Pdf

Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. 'Classical' gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene-or even every mutation-may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside.

Author : Carlos A. Medina,Justin H. Townsend,Arun D. Singh
Publisher : Springer
Page : 632 pages
File Size : 43,9 Mb
Release : 2016-04-26
Category : Medical
ISBN : 9783319204604

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Manual of Retinal Diseases by Carlos A. Medina,Justin H. Townsend,Arun D. Singh Pdf

This book is a comprehensive source of authoritative information on the clinical features,diagnosis, differential diagnosis, and management of medical and surgical retinal diseases. The Manual has 122 chapters, organized in 18 sections covering medical and surgical aspects of retinal diseases such as trauma, AMD, Uveitis, infections, endophthalmitis, pediatric diseases, dystrophies, and tumors. Easy-to-read chapters convey the fundamental concepts with the aid of clinical photographs, imaging studies (including fluorescein and indocyanine angiograms, ultrasonograms, CT scans, and MRI scans) and tables. The manual is of value to a wide range of practitioners and trainees, including students,residents, fellows and ophthalmologists who treat retinal diseases.