Atlas Of Inherited Retinal Diseases by Stephen H. TsangAtlas Of Inherited Retinal Diseases by Stephen H. Tsang

Atlas Of Inherited Retinal Diseases

byStephen H. TsangEditorTarun Sharma

Hardcover | January 12, 2019

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ThisAtlas of Inherited Retinal Disordersprovides 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, thisAtlaswill 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.


Stephen H. Tsang MD, PhD has been culturing embryonic stem (ES) cells since 1992 and in 1995 created the first mouse model for a recessive form of retinitis pigmentosa (RP) by applying homologous recombination to ES cell technology. Since 1996, the Dr. Tsang has been quantifying retinal function and structure in gene-targeted mutant mi...
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Title:Atlas Of Inherited Retinal DiseasesFormat:HardcoverProduct dimensions:274 pages, 9.41 × 7.24 × 0.98 inShipping dimensions:9.41 × 7.24 × 0.98 inPublished:January 12, 2019Publisher:Springer NatureLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:3319950452

ISBN - 13:9783319950457

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Table of Contents

Section I: Basic Knowledge

1. Retinal Histology and Anatomical Landmarks
2. Fluorescein Angiography
3. Optical Coherence Tomography
4. Fundus Autofluorescence 
5. Electroretinography
6. Electrooculography
7. Glossary of Relevant Genetic and Molecular/Cell Biology

Section II: X-linked Forms

8. X-Linked Retinitis Pigmentosa
9. X-Linked Choroideremia
10. X-Linked Juvenile Retinoschisis
11. X-Linked Ocular Albinism
12. Progressive Cone Dystrophy and Cone-Rod Dystrophy 
13. Congenital Stationary Night Blindness 
14. Blue Cone Monochromatism 

Section III: Autosomal Dominant Forms

15. Autosomal Dominant Retinitis Pigmentosa 
16. Best Vitelliform Macular Dystrophy
17. Pattern Dystrophy
18. Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese, Autosomal Dominant Drusen)  
19. Occult Macular Dystrophy 
20. Sorsby Pseudoinflammatory Fundus Dystrophy
21. North Carolina Macular Dystrophy 
22. Pigmented Paravenous Chorioretinal Atrophy (PPCRA)
23. Late-Onset Retinal Degeneration 

Section IV: Autosomal Recessive Form

24. Rod Monochromatism (Achromatopsia)
25. Retinitis Pigmentosa (Non-syndromic)
26. Leber Congenital Amaurosis 
27. Stargardt Disease 
28. Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome)
29. Best Vitelliform Macular Dystrophy 

Section V: Systemic Disorders

30. Mitochondrial Disorder: Kearns-Sayre Syndrome 
31. Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness 
32. Ciliopathy: Usher Syndrome 
33. Ciliopathy: Bardet-Biedl Syndrome 
34. Ciliopathy: Senior-Loken Syndrome
35. Ciliopathy: Alström Syndrome 
36. Ciliopathy: Sjögren-Larsson Syndrome 
37. Inborn Errors of Metabolism: Gyrate Atrophy 
38. Inborn Errors of Metabolism: Pseudoxanthoma Elasticum
39. Inborn Errors of Metabolism: Refsum Disease 
40. Inborn Errors of Metabolism: Bietti Crystalline Dystrophy 
41. Extracellular Matrix: Alport Syndrome 

Section VI: Phakomatoses

42. Von Hippel-Lindau Disease
43. Tuberous Sclerosis
44. Neurofibromatosis 

Section VII: Phenocopies

45. Rubella Retinopathy
46. Syphilis
47. Autoimmune Retinopathy
48. Drug-Induced Retinal Toxicity
49. Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases
50. Diffuse Unilateral Subacute Neuroretinitis (DUSN)

Section VIII: Managing IRDs in Clinics

51. A Practical Approach to Retinal Dystrophies
52. Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding