Hereditary Chorioretinal Disorders
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| Author | : Gemmy Cheung |
| Publisher | : Springer Nature |
| Total Pages | : 152 |
| Release | : 2020-01-29 |
| Genre | : Medical |
| ISBN | : 9811504148 |
This volume of the retina atlas focuses on hereditary chorioretinal disorders. The topics covered include retinitis pigmentosa, Best disease, congenital X-linked retinoschisis, cone dystrophy, Stargardt’s disease, pattern dystrophy, North Carolina macular dystrophy, choroideremia, Mallattia Leventinese, Bietti’s crystalline dystrophy, and albinism. All clinical features are clearly illustrated with multimodal imaging techniques. The utility of some of the latest imaging tools such as OCT angiography, adaptive optics-scanning laser ophthalmoscopy, and microperimetery is discussed. Readers will gain valuable new insights into pathogenesis at the molecular level, which have been facilitated by recent genetic discoveries. The use of genetic testing and the latest advances in and challenges of gene therapy and cell-based therapy are also covered in detail. Hereditary Chorioretinal Disorders atlas is one of nine volumes in the series Retina Atlas. The series provides validated and comprehensive information on vitreoretinal diseases, covering imaging basics, retinal vascular diseases, macular disorders, ocular inflammatory and infectious disorders, retinal degeneration, the surgical retina, ocular oncology, pediatric retina and trauma.
| Author | : Bernard Puech |
| Publisher | : Springer |
| Total Pages | : 501 |
| Release | : 2014-07-19 |
| Genre | : Medical |
| ISBN | : 3540694668 |
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 | : Stephen H. Tsang |
| Publisher | : Springer |
| Total Pages | : 262 |
| Release | : 2018-12-21 |
| Genre | : Medical |
| ISBN | : 3319950460 |
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 | : Elias I. Traboulsi |
| Publisher | : OUP USA |
| Total Pages | : 940 |
| Release | : 2012-01-12 |
| Genre | : Medical |
| ISBN | : 0195326148 |
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 | : Jay Chhablani |
| Publisher | : Academic Press |
| Total Pages | : 474 |
| Release | : 2017-05-31 |
| Genre | : Science |
| ISBN | : 0128092238 |
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 | : Hyeong-Gon Yu |
| Publisher | : Springer Nature |
| Total Pages | : 237 |
| Release | : 2022-03-11 |
| Genre | : Medical |
| ISBN | : 9811673373 |
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 | : Noemi Lois |
| Publisher | : Lippincott Williams & Wilkins |
| Total Pages | : 303 |
| Release | : 2012-02-13 |
| Genre | : Medical |
| ISBN | : 1451152809 |
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 | : Gemmy C. M. Cheung |
| Publisher | : |
| Total Pages | : 147 |
| Release | : 2020 |
| Genre | : Retina |
| ISBN | : 9789811504150 |
This volume of the retina atlas focuses on hereditary chorioretinal disorders. The topics covered include retinitis pigmentosa, Best disease, congenital X-linked retinoschisis, cone dystrophy, Stargardt's disease, pattern dystrophy, North Carolina macular dystrophy, choroideremia, Mallattia Leventinese, Bietti's crystalline dystrophy, and albinism. All clinical features are clearly illustrated with multimodal imaging techniques. The utility of some of the latest imaging tools such as OCT angiography, adaptive optics-scanning laser ophthalmoscopy, and microperimetery is discussed. Readers will gain valuable new insights into pathogenesis at the molecular level, which have been facilitated by recent genetic discoveries. The use of genetic testing and the latest advances in and challenges of gene therapy and cell-based therapy are also covered in detail. Hereditary Chorioretinal Disorders atlas is one of nine volumes in the series Retina Atlas. The series provides validated and comprehensive information on vitreoretinal diseases, covering imaging basics, retinal vascular diseases, macular disorders, ocular inflammatory and infectious disorders, retinal degeneration, the surgical retina, ocular oncology, pediatric retina and trauma. .
| Author | : Giuseppe Querques |
| Publisher | : Springer |
| Total Pages | : 128 |
| Release | : 2016-02-15 |
| Genre | : Medical |
| ISBN | : 3319266217 |
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 | : Xiaoyi Raymond Gao |
| Publisher | : Academic Press |
| Total Pages | : 386 |
| Release | : 2019-09-12 |
| Genre | : Science |
| ISBN | : 0128167270 |
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
