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Retinal Dystrophy Gene Atlas, 1st ed. 2018

Langue : Anglais

Auteurs :

Couverture de l’ouvrage Retinal Dystrophy Gene Atlas
​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 pace of improvement in molecular diagnostics, availability of free mutation screening from the NIH, and the exponential increase in our understanding of the phenotypes caused by each mutated gene, the paradigm has changed to where physicians now think of variable expression of each individual gene. Therefore, Retinal Dystrophy Gene Atlas catalogs the different phenotypes that are possible with each mutated gene. Each section 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, Retinal Dystrophy Gene Atlas contains more than 100 chapters, each of which describes the clinical and photographic manifestations of a specific gene. The chapters are organized into one of three sections based on the inheritance pattern (Autosomal Dominant, Autosomal Recessive, or X-linked) and will include stunning clinical color photographs of the retina, autofluorescence imaging, and electrophysiologic findings and cross-sectional imaging.  Retinal Dystrophy Gene Atlas will serve as a resource to aid genetic diagnosis in patients with retinal dystrophies by more than 2,400 retina specialists and pediatric ophthalmologists in the United States, as well as hundreds of fellows and residents that enter the workforce each year.
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.
Sarwar Zahid, MS, MD
University of Michigan 
Kellogg Eye Center
Ann Arbor, MI, USA 


Kari Branham, MS, CGC 
University of Michigan 
Kellogg Eye Center
Ann Arbor, MI, USA


Dana Schlegel, MS, MPH, CGC 
University of Michigan
Kellogg Eye Center
Ann Arbor, MI, USA


Mark Pennesi, PhD, MD
Casey Eye Institute
Portland, OR, USA


Michel Michaelides, MB, MD
Moorfields Eye Hospital
London, United Kingdom


John Heckenlively, MD
University of Michigan 
Kellogg Eye Center 
Ann Arbor, MI, USA


Thiran Jayasundera, MD
University of Michigan 
Kellogg Eye Center
Ann Arbor, MI, USA

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 100 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

Date de parution :

Ouvrage de 279 p.

21x27.9 cm

Disponible chez l'éditeur (délai d'approvisionnement : 15 jours).

Prix indicatif 189,89 €

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