Inherited Chorioretinal Dystrophies

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.

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. .

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.

This unique resource is a practical, easy-to-use guide for the non-ophthalmologist healthcare provider as they encounter patients with eye complaints and other concerning ophthalmic conditions. The Columbia Guide to Basic Elements of Eye Care is specifically designed with the non-ophthalmologist in mind, and provides a foundation of basic eye anatomy and physiology, functional analysis, pathology, and concepts in eye care. Each chapter delivers an accessible summary of various ophthalmic diseases and conditions, all of which are frequently encountered in everyday practice. These chapters provide in-depth discussions on a wide range of topics, from testing and examination procedures to management protocols, referral guidelines and expected frequency of follow-up for each disorder. Complete with hundreds of high-quality, descriptive illustrations and clinical photographs, The Columbia Guide to Basic Elements of Eye Care presents clear, understandable explanations of basic eye anatomy, physiology, disease and treatment for non-ophthalmic practitioners and students. In doing so, this guide provides a framework for determining the normal versus the abnormal, helping the reader recognize which patients require referral, and identify which conditions are developing, require urgent treatment, or can be routinely followed. Non-ophthalmologist healthcare providers and students alike will find this book, written by leaders in the field, a practical resource to consult as they encounter patients with treatable but potentially sight-threatening conditions.

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.

Current Progress in iPSC Disease Modeling, Volume Fourteen in the Advances in Stem Cell Biology series, is a timely and expansive collection of information and new discoveries in the field. This new volume addresses advances in research on how induced pluripotent stem cells are used for the creation of new tissues and organs. The creation of iPSC technology allowed the development of disease-specific human pluripotent stem cells. These cells allow researchers to study questions once impossible for some human diseases. This volume addresses iPSCs for vascular tissue engineering, bioprinting, derived lung organoids for pulmonary disorders, skeletal muscle engineering, human kidney organoids, and more. It is written for researchers and scientists in stem cell therapy, cell biology, regenerative medicine and organ transplantation, and is contributed by world-renowned authors in the field. Provides an overview of the fast-moving field of stem cell biology and function, regenerative medicine and therapeutics Covers advances in research on how induced pluripotent stem cells are used to create new tissues/organs Contributed by world-renowned experts in the field