Atlas of Inherited Retinal Diseases

Description

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. Front Matter ....Pages i-xix Front Matter ....Pages 1-1 Retinal Histology and Anatomical Landmarks (Stephen H. Tsang, Tarun Sharma)....Pages 3-5 Fluorescein Angiography (Stephen H. Tsang, Tarun Sharma)....Pages 7-10 Optical Coherence Tomography (Stephen H. Tsang, Tarun Sharma)....Pages 11-13 Fundus Autofluorescence (Stephen H. Tsang, Tarun Sharma)....Pages 15-16 Electroretinography (Stephen H. Tsang, Tarun Sharma)....Pages 17-20 Electrooculography (Stephen H. Tsang, Tarun Sharma)....Pages 21-22 Glossary of Relevant Genetic and Molecular/Cell Biology (Stephen H. Tsang, Tarun Sharma)....Pages 23-28 Front Matter ....Pages 29-29 X-linked Retinitis Pigmentosa (Stephen H. Tsang, Tarun Sharma)....Pages 31-35 X-linked Choroideremia (Stephen H. Tsang, Tarun Sharma)....Pages 37-42 X-linked Juvenile Retinoschisis (Stephen H. Tsang, Tarun Sharma)....Pages 43-48 X-linked Ocular Albinism (Stephen H. Tsang, Tarun Sharma)....Pages 49-52 Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR) (Stephen H. Tsang, Tarun Sharma)....Pages 53-60 Congenital Stationary Night Blindness (Stephen H. Tsang, Tarun Sharma)....Pages 61-64 Blue Cone Monochromatism (Stephen H. Tsang, Tarun Sharma)....Pages 65-66 Front Matter ....Pages 67-67 Autosomal Dominant Retinitis Pigmentosa (Stephen H. Tsang, Tarun Sharma)....Pages 69-77 Best Vitelliform Macular Dystrophy (Stephen H. Tsang, Tarun Sharma)....Pages 79-90 Pattern Dystrophy (Stephen H. Tsang, Tarun Sharma)....Pages 91-96 Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen) (Stephen H. Tsang, Tarun Sharma)....Pages 97-102 Occult Macular Dystrophy (Stephen H. Tsang, Tarun Sharma)....Pages 103-104 Sorsby Pseudoinflammatory Fundus Dystrophy (Stephen H. Tsang, Tarun Sharma)....Pages 105-108 North Carolina Macular Dystrophy (Stephen H. Tsang, Tarun Sharma)....Pages 109-110 Pigmented Paravenous Chorioretinal Atrophy (PPCRA) (Stephen H. Tsang, Tarun Sharma)....Pages 111-113 Late-Onset Retinal Degeneration (Stephen H. Tsang, Tarun Sharma)....Pages 115-116 Front Matter ....Pages 117-117 Rod Monochromatism (Achromatopsia) (Stephen H. Tsang, Tarun Sharma)....Pages 119-123 Retinitis Pigmentosa (Non-syndromic) (Stephen H. Tsang, Tarun Sharma)....Pages 125-130 Leber Congenital Amaurosis (Stephen H. Tsang, Tarun Sharma)....Pages 131-137 Stargardt Disease (Stephen H. Tsang, Tarun Sharma)....Pages 139-151 Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome) (Stephen H. Tsang, Tarun Sharma)....Pages 153-156 Best Vitelliform Macular Dystrophy (Stephen H. Tsang, Tarun Sharma)....Pages 157-158 Front Matter ....Pages 159-159 Mitochondrial Disorder: Kearns-Sayre Syndrome (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 161-162 Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 163-165 Ciliopathy: Usher Syndrome (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 167-170 Ciliopathy: Bardet-Biedl Syndrome (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 171-174 Ciliopathy: Senior-Løken Syndrome (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 175-178 Ciliopathy: Alström Syndrome (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 179-180 Ciliopathy: Sjögren-Larsson Syndrome (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 181-182 Inborn Errors of Metabolism: Gyrate Atrophy (Stephen H. Tsang, Alicia R. P. Aycinena, Tarun Sharma)....Pages 183-185 Inborn Errors of Metabolism: Pseudoxanthoma Elasticum (Stephen H. Tsang, Tarun Sharma)....Pages 187-189 Inborn Errors of Metabolism: Refsum Disease (Stephen H. Tsang, Tarun Sharma)....Pages 191-192 Inborn Errors of Metabolism: Bietti Crystalline Dystrophy (Stephen H. Tsang, Tarun Sharma)....Pages 193-195 Extracellular Matrix: Alport Syndrome (Stephen H. Tsang, Tarun Sharma)....Pages 197-198 Front Matter ....Pages 199-199 Von Hippel-Lindau Disease (Stephen H. Tsang, Tarun Sharma)....Pages 201-203 Tuberous Sclerosis (Stephen H. Tsang, Tarun Sharma)....Pages 205-207 Neurofibromatosis (Stephen H. Tsang, Tarun Sharma)....Pages 209-211 Front Matter ....Pages 213-213 Rubella Retinopathy (Stephen H. Tsang, Tarun Sharma)....Pages 215-217 Syphilis (Stephen H. Tsang, Tarun Sharma)....Pages 219-221 Autoimmune Retinopathy (Stephen H. Tsang, Tarun Sharma)....Pages 223-226 Drug-Induced Retinal Toxicity (Stephen H. Tsang, Tarun Sharma)....Pages 227-232 Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases (Stephen H. Tsang, Tarun Sharma)....Pages 233-237 Diffuse Unilateral Subacute Neuroretinitis (DUSN) (Stephen H. Tsang, Tarun Sharma)....Pages 239-241 Front Matter ....Pages 243-243 A Practical Approach to Retinal Dystrophies (Irena Tsui, Brian J. Song, Chyuan-Sheng Lin, Stephen H. Tsang)....Pages 245-259 Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding (Stephen H. Tsang, Tarun Sharma)....Pages 261-268 Back Matter ....Pages 269-274