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Retinal dystrophy gene atlas

Author: Sarwar Zahid
Publisher: Cham, Switzerland : Springer, [2018] ©2018
Edition/Format:   eBook : Document : EnglishView all editions and formats
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  Read more...
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Genre/Form: Scientific atlases
Electronic books
Atlases
Additional Physical Format: Print version:
Jayasundera, Thiran.
Retinal Dystrophy Gene Atlas.
Cham : Springer, ©2018
(OCoLC)1047906048
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Sarwar Zahid
ISBN: 9783319108674 3319108670 3319108662 9783319108667 9783319108681 3319108689 9783030132347 303013234X
OCLC Number: 1043619009
Description: 1 online resource (xiii, 279 pages) : illustrations (some color)
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.
Responsibility: Sarwar Zahid [and six others].

Abstract:

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  Read more...

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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.<\/span>\"@en<\/a> ;\u00A0\u00A0\u00A0\nschema:description<\/a> \"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. 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