Table 1.
Demographic, Clinical and Molecular Data of Patients. Patient ID number (#)
| Patient # Sex | Acuity | Baseline | 1st CONTR | 2nd CONTR | Mutation I Allele |
Mutation II Allele | |
|---|---|---|---|---|---|---|---|
| OD | OS | ||||||
| 2. F, 14 | 0.2 | 0.2 | B 11.04.11 |
A 24.10.11 |
18.06.12 | IVS35 + 2t > c | IVS40 + 5g > a |
| 3. M, 11 | 0.1 | 0.1 | B 11.04.11 |
A 10.10.11 |
16.04.12 | c432A > G; | Q767d > a G1961e |
| 4. F, 35 | 0.1 | 0.1 | A 11.04.11 |
B 11.10.11 |
16.04.12 | c.52C > T; p.Arg18Trp | C7671 > A; p.Val767Asp |
| 5. F, 14 | 0.3 | 0.3 | A 18.04.11 |
B 24.10.11 |
23.04.12 | c.1622T > C; p.Leu541Pro | ------ |
| 6. M, 12 | 0.3 | 0.3 | A 18.04.11 |
B 24.10.11 |
23.04.12 | c.1622T > C; p.Leu541Pro | ------ |
| 8. M, 56 | 0.1 | 0.5 | B 18.04.11 |
A 24.10.11 |
18.05.12 | Arg653His | Arg653His |
| 9. M, 61 | 0.9 | 0.9 | B 18.04.11 |
A 24.10.11 |
18.05.12 | Arg653His | Arg653His |
| 11. M, 12 | 0.2 | 0.2 | A 02.05.11 |
B 25.11.11 |
08.05.12 | c.5882G > A; p.Gly1961glu | c.6764G > T, p.Ser2255Ile |
| 12. F, 16 | 0.2 | 0.2 | B 09.05.11 |
A 08.11.11 |
22.05.12 | c.3602T > G; p.Leu1201Arg | c.5530G > T; Gly1844Cys c.5722G > T; p.Glu1908X |
| 14. F, 78 | 0.1 | 0.1 | B 16.05.11 |
A 28.11.11 |
21.05.12 | c.4793C > AAla1598Asp | (c.6184_6188delGTCT; p.Val2062fsX2113) |
| 18. F, 34 | 0.8 | 0.8 | B 20.06.11 |
A 19.12.12 |
21.06.12 | c.2099G > A; p. W700X |
c.4561C > T; P1486L |
| 19. F, 47 | 1.0 | 1.0 | A 11.07.11 |
B 09.01.12 |
09.07.121 | c.2690C > T; p.Thr897Ile | ------ |
| 20. M, 43 | 0.1 | 0.1 | A 11.07.11 |
B 09.01.12 |
09.07.12 | c.2690C > T; p.Thr897Ile | ------ |
| 21. M, 12 | 0.1 | 0.1 | B 11.07.11 |
A 09.01.12 |
09.07.12 | c.4139C > T; Pro1380Leu | c.6005+1G > C |
| 23. M, 34 | 0.1 | 0.1 | B 20.06.11 |
A 19.12.11 |
25.06.12 | c.61C > T; p.Gln21Ter | c.5882G > A; p.Gly1961Glu |
| 24. M, 16 | 0.1 | 0.9 | A 12.10.11 |
B 23.04.12 |
29.10.12 | c.2461T > A; p.Trp821Arg c.2459A > G; p.Tyr850Cys |
c.5882G > A; p.Gly1961Glu |
| 25. M, 29 | 0.1 | 0.1 | A 07.11.11 |
B 02.05.12 |
12.11.12 | C768G > T; p.Val256splice | c.4437G>A;p.Trp1479X |
| 26. M, 32 | 0.1 | 0.1 | B 07.11.11 |
A 28.05.12 |
03.12.12 | 5714 + 5G-A | 6088C > T |
| 27. F, 29 | 0.2 | 0.2 | A 08.11.11 |
B 04.06.12 |
17.01.13 | Thr977Pro | IVS40 + 5G-A |
| 28. M, 27 | 0.2 | 0.2 | B 21.11.11 |
A 21.05.12 |
22.11.12 | c.5065T > C; p.S1689P | c.5882G > A; p.G1961E |
| 29. F, 22 | 0.1 | 0.5 | A 13.12.11 |
B 18.06.12 |
20.12.12 | 4709-4711delA | Gly1961Glu |
| 30. M, 42 | 0.1 | 0.2 | A 23.01.12 |
B 27.06.12 |
07.01.13 | R152Q | R653C |
| 31. M, 10 | 0.2 | 0.2 | B 13.02.12 |
A 06.08.12 |
11.02.13 | c.4200C>A;p.Tyr1400X | c.686T>C;p.Leu229Pro |
| 32. M, 17 | 0.3 | 0.3 | A 20.02.12 |
B 03.09.12 |
18.03.13 | R18W | C1490Y |
| 33. M, 22 | 0.4 | 0.4 | B 21.02.12 |
A 10.09.12 |
09.03.13 | c.5882G>A;p.Gly1691Glu | (c.3994_4017dup;p,.Gln1332_cys1339dup) Val2062ThrfsX52 |
| 38. M, 15 | 0.2 | 0.2 | B 03.04.12 |
A 15.10.12 |
22.04.13 | c.2791G>A;p.Val931Met | ------ |
| 39. M, 21 | 0.1 | 0.2 | A 04.04.12 |
B 29.10.12 |
13.05.13 | Ser1064Pro | IVS35+2t>c |
| 42. F, 21 | 0.3 | 0.3 | B 17.04.12 |
A 08.10.12 |
11.04.13 | Ivs13+1g>a | Ivs40+5g>40 |
| 43. M, 52 | 0.1 | 0.5 | B 23.04.12 |
A 12.11.12 |
16.05.13 | c.3323G>A;p.Arg1018His | c.5882G>A;p.Gly1961Glu |
| 44. M, 35 | 0.4 | 0.4 | A 17.05.12 |
B 13.12.12 |
20.06.13 | GlY1961Glu | IVS45+1g>c |
| 45. F, 56 | 0.8 | 0.1 | B 21.5.12 |
A 05.11.12 |
02.05.13 | c.2549>G;P.Tyr850Cys c.2875A>G;p.Thr959Ala |
c.5882G>A;p.Gly1961Glu |