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Atlas of Inherited Retinal Diseases / edited by Stephen H. Tsang, Tarun Sharma, Vlad Diaconita.

Springer Nature - Springer Biomedical and Life Sciences (R0) eBooks 2025 English International Available online

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Format:
Book
Author/Creator:
Tsang, Stephen H.
Contributor:
Sharma, Tarun.
Diaconita, Vlad.
Series:
Advances in Experimental Medicine and Biology, 2214-8019 ; 1467
Language:
English
Subjects (All):
Ophthalmology.
Medical genetics.
Genetics.
Clinical Genetics.
Medical Genetics.
Genetics and Genomics.
Local Subjects:
Ophthalmology.
Clinical Genetics.
Medical Genetics.
Genetics and Genomics.
Physical Description:
1 online resource (433 pages)
Edition:
2nd ed. 2025.
Place of Publication:
2025.
Cham : Springer Nature Switzerland : Imprint: Springer, 2025.
Summary:
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.
Contents:
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.
Notes:
Description based on publisher supplied metadata and other sources.
ISBN:
3-031-72230-2
OCLC:
1564374668

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