Atlas of Inherited Retinal Diseases (Advances in Experimental Medicine and Biology, Vol. 1085)

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 Dystrophy21. 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-Løken 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

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.

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 mice. As the director an international referral center for inherited retinal degenerations, Dr. Tsang cares for a specific subgroup of patients that are most appropriately aligned with precision medicine. At times, patients suffer from a disorder that is related to an existing transgenic mouse model generated in the laboratory, and other times patients inspire new models. . Dr. Tsang's contributions to genetics has being recognized by the 2005 “Bernard Becker-Association of University Professor in Ophthalmology”-“Research to Prevent Blindness” Award, Carl Camras Award, and the 2013 Bradley Straatsma Lectureship. Dr. Tsang received 2008 resident teaching award. He is also a standing member of the “DPVS” study section at NIH, American Society for Clinical Investigation, American Ophthalmological Society and Macular Society.

Tarun Sharma. For over three decades, Tarun Sharma was associated with a tertiary eye care institute – SANKARA NETHRALAYA – Chennai, India. He was the director of vitreoretinal services and professor of ophthalmology for over a decade. For his distinguished contribution to the field of ophthalmology, he was awarded thrice by the American Academy of Ophthalmology: Achievement Award (2007), International Ophthalmologist Education Award (2009), and the International Scholar Award (2011). In 2017, he joined the Edward S. Harkness Institute, the Columbia University Medical Center, NY, and currently working as a gene therapist at Jonas Children's Vision Care.