| ISBN13: | 9783031722295 |
| ISBN10: | 3031722299 |
| Kötéstípus: | Keménykötés |
| Terjedelem: | 264 oldal |
| Méret: | 279x210 mm |
| Nyelv: | angol |
| Illusztrációk: | 21 Illustrations, black & white; 178 Illustrations, color |
| 700 |
Atlas of Inherited Retinal Diseases
EUR 149.79
Kattintson ide a feliratkozáshoz
This atlas provides a thorough overview of various inherited retinal dystrophies with an 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.
In this thoroughly updated new edition featuring new images and the latest research developments, new chapters on the history taking of IRD suspect patients. Updated chapters on mimics of IRD diseases, as well as a novel section on current available treatments.
This atlas provides a thorough overview of various inherited retinal dystrophies with an 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.
In this thoroughly updated new edition featuring new images and the latest research developments, new chapters on the history taking of IRD suspect patients. Updated chapters on mimics of IRD diseases, as well as a novel section on current available treatments.
Chapter 1 Retinal Histology and Anatomical Landmarks.- Chapter 2 Fluorescein Angiography.- Chapter 3 Optical Coherence Tomography.- Chapter 4 Fundus Autofluorescence.- Chapter 5 ERG.- Chapter 6 Electrooculography.- Chapter 7 Glossary of Relevant Genetic and MolecularCell Biology.- Chapter 8 X-linked Retinitis Pigmentosa.- Chapter 9 X-linked Choroideremia.- Chapter 10 X-linked Juvenile Retinoschisis.- Chapter 11 X-linked Ocular Albinism.- Chapter 12 Progressive Cone Dystrophy and Cone-Rod Dystrophy.- Chapter 13 Congenital Stationary Night Blindness.- Chapter 14 Blue Cone Monochromatism.- Chapter 15 Autosomal Dominant Retinitis Pigmentosa.- Chapter 16 Best Vitelliform Macular Dystrophy.- Chapter 17 Pattern Dystrophy.- Chapter 18 Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen).- Chapter 19 Occult Macular Dystrophy.- Chapter 20 Sorsby Pseudoinflammatory Fundus Dystrophy.- Chapter 21 North Carolina Macular Dystrophy.- Chapter 22 Pigmented Paravenous Chorioretinal Atrophy (PPCRA).- Chapter 23 Late-Onset Retinal Degeneration.- Chapter 24 Achromatopsia (Rod Monochromatism).- Chapter 25 Retinitis Pigmentosa (Non-syndromic).- Chapter 26 Leber Congenital Amaurosis.- Chapter 27 Stargardt Disease.- Chapter 28 Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome).- Chapter 29 Best Vitelliform Macular Dystrophy.- Chapter 30 Mitochondrial Disorder Kearns-Sayre Syndrome.- Chapter 31 MIDD.- Chapter 32 Usher Syndrome.- Chapter 33 Bardet-Biedl Syndrome.- Chapter 34 Senior-Loken Syndrome.- Chapter 35 Alstrom Syndrome. Chapter 36 Sjogren-Larsson Syndrome.- Chapter 37 Inborn Errors of Metabolism Gyrate Atrophy.- Chapter 38 Pseudoxanthoma Elasticum.- Chapter 39 Refsum Disease.- Chapter 40 Bietti.- Chapter 41 Alport Syndrome.- Chapter 42 N - Stickler Syndrome.- Chapter 43 N - OTX2 Syndrome.- Chapter 44 VHL.- Chapter 45 Tuberous Sclerosis.- Chapter 46 Neurofibromatosis.- Chapter 47 Rubella Retinopathy.- Chapter 48 Syphilis.- Chapter 49 AIR.- Chapter 50 Drug-Induced Retinal Toxicity.- Chapter 51 Non-Infectious Uveitis.- Chapter 52 Diffuse Unilateral Subacute Neuroretinitis (DUSN).- Chapter 53 CSCR.- Chapter 54 Pathologic Myopia.- Chapter 55 A Practical Approach to Retinal Dystrophies.- Chapter 56 Genetic Testing For Inherited Retinal Dystrophy.- Chapter 57 Genetic Reports.- Chapter 58 The genetic basis of IRDS and the role of genetic testing.- Chapter 59 Seeing Stars The Gene Therapy Revolution.- Chapter 60 Mutation Specific Treatments for Inherited Retinal Diseases.- Chapter 61 Global Treatment Approaches Part 1 Neuroprotection and Stem Cell Therapy.- Chapter 62 Global Treatment Approaches Part 2 Optogenetics and Retinal Implants.