Table 1. Clinical Features of patients with a TBK1 gene duplication at initial examination and at last available examination.
Age, visual acuity, IOP, CCT, cup-todisc ratio, and average retinal nerve fiber layer thickness from OCT was measured in 14 eyes of 7 patients from a single African American pedigree with NTG caused by a TBK1 gene duplication. Patients are indicated by their pedigree symbol identification number from Figure 1. Abbreviations: OD, right eye; OS, left eye; NA, not available.
| II-2 | II-5 | II-9 | III-1 | III-2 | III-6 | III-7 | Mean (SD) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family member (Pedigree symbol) |
Initial Exam |
Final Exam |
Initial Exam |
Final Exam |
Initial Exam |
Final Exam |
Initial Exam |
Final Exam |
Initial Exam |
Final Exam |
Initial Exam |
Final Exam |
Initial Exam |
Final Exam |
Mean Initial Exam (SD) |
Mean Final Exam (SD) |
| Age (years) | 46 | 77 | 43 | 73 | 35 | 60 | 31 | 57 | 34 | 48 | 36 | 41 | 22 | 39 | 35 (8) | 56 (15) |
| VA (LogMAR) | 0.0 OD 0.0 OS |
0.3 OD 0.6 OS |
0.0 OD 0.0 OS |
0.3 OD 0.4 OS |
0.0 OD 0.0 OS |
0.1 OD 0.1 OS |
0.0 OD 0.0 OS |
0.0 OD 0.0 OS |
0.0 OD 0.0 OS |
0.0 OD 0.0 OS |
0.0 OD 0.0 OS |
0.0 OD 0.0 OS |
0.0 OD 0.0 OS |
0.0 OD 0.0 OS |
0.0 (0.0) | 0.13 (0.2) |
| IOP (mm Hg) | 14.0 OD 14.0 OS |
6.0 OD 7.0 OS |
18.0 OD 17.0 OS |
16.0 OD 9.0 OS |
17.0 OD 16.0 OS |
12.0 OD 13.0 OS |
15.0 OS 14.5 OA |
10 OD 10 OS |
20.0 OD 20.0 OS |
14.0 OD 14.0 OS |
15.0 OD 15.0 OS |
14.0 OD 14.0 OS |
14.0 OD 14.0 OS |
11.0 OS 11.0 OD |
16.0 (2.1) | 11.5 (2.9) |
| CCT (microns)* | 532 OD 541 OS |
NA | 533 OD 526 OS |
NA | 487 OD 504 OS |
NA | 496 OD 497 OS |
NA | 490 OD 486 OS |
NA | 524 OD 533 OS |
NA | 474 OD 463 OS |
NA | 506 (25) | NA |
| C/D ratio | 0.99 OD 0.99 OS |
0.99 OD 0.99 OS |
0.99 OD 0.99 OS |
0.99 OD 0.99 OS |
0.80 OD 0.80 OS |
0.90 OD 0.90 OS |
0.90 OD 0.90 OS |
0.99 OD 0.99 OS |
0.80 OD 0.90 OS |
0.90 OD 0.95 OS |
0.90 OD 0.90 OS |
0.90 OD 0.90 OS |
0.80 OD 0.80 OS |
0.90 OD 0.99 OS |
0.90 (0.1) | 0.94 (0.04) |
| OCT nerve fiber layer (microns) | NA | 58.0 OD 49.0 OS |
NA | 61.0 OD 61.0 OS |
NA | 62.0 OD 90.0 OS |
NA | 54.0 OD 62.0 OS |
NA | 86.0 OD 71.0 OS |
NA | 88.0 OD 80.0 OS |
NA | 58.0 OD 56.0 OS |
NA | 66.6 (13.6) |
*
A single measurement of corneal thickness was made at some point during follow-up and is listed under initial exam column.