Inherited Retinal Disease

ISBN-13: 9789811673399 / Angielski / Miękka / 2023 / 237 str.

Hyeong-Gon Yu

Opis

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.

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Spis treści

Molecular Genetics of Inherited Retinal Diseases.- Approach to Inherited Retinal Diseases.- Stem Cell and Gene Therapy for Inherited Retinal Diseases.- Retinitis Pigmentosa .- Syndromic Retinitis.-Pigmentosa .- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy.- Congenital Stationary Night Blindness.- Vitelliform Macular Dystrophy.- Stargardt Macular Dystrophy .- Cone Dystrophy / Cone-rod Dystrophy.- X-Linked Retinoschisis .- Von Hippel Lindau Disease and Retinal Hemangioblastoma.- Other Macular Dystrophies 1.- Other Macular Dystrophies 2.- Hereditary Vitreoretinal Degenerations.- Hereditary Choroidal Dystrophy.- Retinal Disorders Mimicking Inherited Retinal Diseases.

O autorze

Hyeong Gon Yu, M.D., Ph.D., Professor, Department of Ophthalmology, Seoul National University Hospital, Seoul, South Korea

Dr. Yu is a professor of Seoul National University (SNU) College of Medicine and in charge of the Retina and Uveitis service in Seoul National University Hospital (SNUH).  He has set up two special clinics in the SNUH, the uveitis clinic and the hereditary retinal disease clinic. He is Chair of the Department of Preclinical Research of SNUH Bioresearch Institute since 2016. Also, he is a founding president of the Korean Association of Retinal Degeneration (www.kard.or.kr) from 2014.  He is a council member of ISBD (international society of Behcet disease) and a board member of Korean Retina society and Korean Uveitis Society. He is a member of IUSG (International Uveitis Society Group) and Macula Society. He is the first recipient of the Korean Retina Society Academy Award and received Distinguised Service Award from the APAO(Asia Pacific Academy of Ophthalmology) in 2016 and 2017. 

He serves as a prinicipal investigator or co-investigator in many clinical trials.  His research interests focus on clinical and translation research on ocular inflammatory diseases as well as retinal degeneration. He has published over 200 scientific papers including in international journals. He was a chief editor in several books including Asian Retina (Elsevier), Ophthalmic laser treatment, inherited retinal diseases, and Uveitis (Korean Elsevier), and is a volume editor of “Inflammatory and Infectious Disorders” in the upcoming 9-volume Retina Atlas by Springer. He also participated as a chapter author in many textbooks such as Retina (Mosby) and Advances in Vision Research Volume I and II (Springer).

Blurb

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.