Atlas of Inherited Retinal Diseases

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they are related to the most frequently encountered genes. It will also meet the hitherto unmet need of PhD students who would benefit from seeing the phenotypes of the genes they work on and study. Further, because it would help geneticists use and familiarize themselves with the candidate gene approach to test patients' genomes, enabling them to test more efficiently and cost-efficiently (as the cost of genetic testing is quite high and spiralling higher). This invaluable atlas is organized into eight sections starting with the basic knowledge on retinal imaging as an introduction to the subject matter, then diseases are listed according to their inheritance pattern while disorders with extraocular manifestations are grouped by their defining features. This structure will be intuitive to cliniciansand students studying IRDs.

Autorentext
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.

Klappentext

This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they are related to the most frequently encountered genes. It will also meet the hitherto unmet need of PhD students who would benefit from seeing the phenotypes of the genes they work on and study. Further, because it would help geneticists use and familiarize themselves with the candidate gene approach to test patients' genomes, enabling them to test more efficiently and cost-efficiently (as the cost of genetic testing is quite high and spiralling higher). This invaluable atlas is organized into eight sections starting with the basic knowledge on retinal imaging as an introduction to the subject matter, then diseases are listed according to their inheritance pattern while disorders with extraocular manifestations are grouped by their defining features. This structure will be intuitive to clinicians and students studying IRDs.

Inhalt
Section I: Basic Knowledge

1. Retinal Histology and Anatomical Landmarks2. Fluorescein Angiography3. Optical Coherence Tomography4. Fundus Autofluorescence 5. Electroretinography6. Electrooculography7. Glossary of Relevant Genetic and Molecular/Cell Biology
   Section II: X-linked Forms
2. X-Linked Retinitis Pigmentosa9. X-Linked Choroideremia10. X-Linked Juvenile Retinoschisis11. X-Linked Ocular Albinism12. Progressive Cone Dystrophy and Cone-Rod Dystrophy 13. Congenital Stationary Night Blindness 14. Blue Cone Monochromatism
   Section III: Autosomal Dominant Forms
3. Autosomal Dominant Retinitis Pigmentosa 16. Best Vitelliform Macular Dystrophy17. Pattern Dystrophy18. 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
4. 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
5. 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 Syndrome35. Ciliopathy: Alström Syndrome 36. Ciliopathy: Sjögren-Larsson Syndrome 37. Inborn Errors of Metabolism: Gyrate Atrophy 38. Inborn Errors of Metabolism: Pseudoxanthoma Elasticum39. Inborn Errors of Metabolism: Refsum Disease 40. Inborn Errors of Metabolism: Bietti Crystalline Dystrophy 41. Extracellular Matrix: Alport Syndrome
   Section VI: Phakomatoses
6. Von Hippel-Lindau Disease43. Tuberous Sclerosis44. Neurofibromatosis
   Section VII: Phenocopies
7. Rubella Retinopathy46. Syphilis47. Autoimmune Retinopathy48. Drug-Induced Retinal Toxicity49. Acute Zonal Occult Outer Retinopathy (AZOOR) and Related Diseases50. Diffuse Unilateral Subacute Neuroretinitis (DUSN)
   Section VIII: Managing IRDs in Clinics
8. A Practical Approach to Retinal Dystrophies52. Genetic Testing for Inherited Retinal Dystrophy: Basic Understanding