Details

Retinal Dystrophy Gene Atlas

von: Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively, Thiran Jayasundera
CHF 212.50
Verlag:	Springer
Format:	PDF
Veröffentl.:	25.06.2018
ISBN/EAN:	9783319108674
Sprache:	englisch

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Beschreibungen

Titelbeschreibung

Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, <i>Retinal Dystrophy Gene </i><i>Atlas </i>catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, <i>Retinal Dystrophy </i><i>Gene Atlas </i>contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. <i>Retinal Dystrophy Gene Atlas </i>serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.<div><br></div>

Inhaltsverzeichnis

Part I. Autosomal Dominant Inheritance.- 1. BEST1.- 2. CRX.- 3. CTRP5.- 4. EFEMP1.- 5. ELOVL4.- 6. FSCN2.- 7. GNAT1.- 8. GUCA1A.- 9. GUCA1B.- 10. GUCY2D.- 11. IMPDH1 (RP10).- 12. JAG1.- 13. KLHL7.- 14. PROM1.- 15. PRPF3 (RP18).- 16. PRPF31.- 17. PRPF8 (RP18).- 18. PRPH2 (RDS).- 19. RBP3.- 20. RGR.- 21. RHO.- 22. RLPB1.- 23. RP1.- 24. RIMS1.- 25. SEMA4A.- 26. SNRNP200.- 27. TIMP3.- 28. TOPORS.- 29. TTC8.- 30. VCAN.- 31. WFS1.- Part II. Autosomal Recessive Inheritance.- 32. ABCA4.- 33. AIPL1.- 34. ALMS1.- 35. ARL6.- 36. BBS1.- 37. BBS10.- 38. BBS12.- 39. BBS2.- 40. BBS4.- 41. BBS5.- 42. BBS7.- 43. BBS9.- 44. C2ORF71.- 45. C8ORF37.- 46. CDH23.- 47. CEP290.- 48. CERKL.- 49. CLN3.- 50. CLRN1.- 51. CNGA1.- 52. CNGA3.- 53. CNGB1.- 54. CNGB3.- 55. CRB1.- 56. CYP4V2.- 57. DFNB31.- 58. DHDDS.- 59. EYS.- 60. FAM161A.- 61. GNAT2.- 62. GPR98.- 63. IDH3B.- 64. IMPG1.- 65. IQCB1.- 66. KCNV2.- 67. KCNJ13.- 68. LCA5.- 69. LRAT.- 70. MAK.- 71. MERTK.- 72. MYO7A.- 73. NMNAT1.- 74. NR2E3.- 75. NRL.- 76. OAT.- 77. PDE6A.- 78. PDE6B.- 79. PDE6C.- 80. PDE6G.- 81. PDE6H.- 82. PEX7.- 83. PHYH.- 84. PRCD.- 85. RD3.- 86. RDH5.- 87. RDH12.- 88. RPE65.- 89. RPGRIP1.- 90. SAG.- 91. SPATA7.- 92. TULP1.- 93. USH1C.- 94. USH1G.- 95. USH2A.- 96. ZNF513.- Part III. X-Linked Inheritance.- 97. CACNA1F.- 98. CHM.- 99. NYX.- 100. OPN1LW.- 101. RP2.- 102. RPGR.- 103. RS1.

Autorenportrait

<div>Sarwar Zahid, MS, MD</div><div>University of Michigan </div><div>Kellogg Eye Center</div><div>Ann Arbor, MI, USA </div><div><br></div><div><br></div><div>Kari Branham, MS, CGC </div><div>University of Michigan </div><div>Kellogg Eye Center</div><div>Ann Arbor, MI, USA</div><div><br></div><div><br></div><div>Dana Schlegel, MS, MPH, CGC </div><div>University of Michigan</div><div>Kellogg Eye Center</div><div>Ann Arbor, MI, USA</div><div><br></div><div><br></div><div>Mark Pennesi, PhD, MD</div><div>Casey Eye Institute</div><div>Portland, OR, USA</div><div><br></div><div><br></div><div>Michel Michaelides, MB, MD</div><div>Moorfields Eye Hospital</div><div>London, United Kingdom</div><div><br></div><div><br></div><div>John Heckenlively, MD</div><div>University of Michigan </div><div>Kellogg Eye Center </div><div>Ann Arbor, MI, USA</div><div><br></div><div><br></div><div>Thiran Jayasundera, MD</div><div>University of Michigan </div><div>Kellogg Eye Center</div><div>Ann Arbor, MI, USA</div><div></div>

Back cover copy

<p>Classically, photo atlases of retinal dystrophies have been divided into sections that describe and depict a particular retinal finding or disease, after which a differential diagnosis of potential diseases or mutated genes is provided. However, given the rapid improvement in molecular diagnostics, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed. Physicians are now more interested in the variable expressivity associated with mutations in each individual gene. Therefore, <i>Retinal Dystrophy Gene </i><i>Atlas </i>catalogs the different phenotypes that have been reported with each mutated gene. Each section describes a gene and its known clinical phenotypes and features of disease, along with retinal photos of affected patients. Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide, <i>Retinal Dystrophy </i><i>Gene Atlas </i>contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters include stunning clinical color photographs of the retina, autofluorescence imaging, electrophysiologic findings, and cross-sectional imaging. <i>Retinal Dystrophy Gene Atlas </i>serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.</p><p><br></p><p></p>

Sonderbeitrag

Describes a gene and all its possible clinical phenotypes and patient characteristics, along with retinal photos depicting each possible phenotype Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide Contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene Includes stunning clinical color photographs of the retina, autofluorescence imaging, and electrophysiologic findings and cross-sectional imaging Serves as a resource to aid genetic diagnosis in patients with retinal dystrophies by retina specialists and pediatric ophthalmologists in the United States, as well as hundreds of fellows and residents that enter the workforce each year

Verkaufsargumente

<p>Describes a gene and all its possible clinical phenotypes and patient characteristics, along with retinal photos depicting each possible phenotype</p><p>Written by prominent retinal dystrophy specialists from the largest dystrophy centers worldwide</p><p>Contains more than 80 chapters, each of which describes the clinical and photographic manifestations of a specific gene</p><p>Includes stunning clinical color photographs of the retina, autofluorescence imaging, and electrophysiologic findings and cross-sectional imaging</p><p>Serves as a resource to aid genetic diagnosis in patients with retinal dystrophies by retina specialists and pediatric ophthalmologists in the United States, as well as hundreds of fellows and residents that enter the workforce each year</p>