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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.
Pages i-viii
Molecular Genetics of Inherited Retinal Diseases
Dae Joong Ma
Pages 1-19
Approach to Inherited Retinal Diseases
Eun Kyoung Lee
Pages 21-38
Stem Cell and Gene Therapy for Inherited Retinal Diseases
Philip DeSouza, Un Chul Park, Susanna S. Park
Pages 39-67
Hyeong-Gon Yu
Pages 69-97
Syndromic Retinitis Pigmentosa
Chang Ki Yoon
Pages 99-108
Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy
Michalis Georgiou, Michel Michaelides
Pages 109-115
Congenital Stationary Night Blindness
Bum-Joo Cho
Pages 117-123
Min Kim, Hyeong-Gon Yu
Pages 125-149
Kaoru Fujinami, Yu Fujinami-Yokokawa, Lizhu Yang, Xiao Liu, Gavin Arno, Nikolas Pontikos et al.
Pages 151-168
Cone Dystrophy/Cone-Rod Dystrophy
Jung Hyun Park
Pages 169-173
Christopher Seungkyu Lee
Pages 175-181
Von Hippel Lindau Disease and Retinal Hemangioblastoma
Cheolmin Yun
Pages 183-189
Joo Young Shin
Pages 191-196
In Hwan Cho
Pages 197-207
Hereditary Vitreoretinal Degenerations
So Hyun Bae
Pages 209-219
Hereditary Choroidal Dystrophy
Sang Jin Kim
Pages 221-227
Retinal Disorders Mimicking Inherited Retinal Diseases
Un Chul Park
Pages 229-237
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