BookSarwar Zahid [and 6 others].
Summary: 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, Retinal Dystrophy Gene Atlas 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, Retinal Dystrophy Gene Atlas 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. Retinal Dystrophy Gene Atlas serves as a resource to aid genetic diagnosis in patients with retinal dystrophies.
Contents:
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.