Full Description
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.
Contents
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.
