Table 2.
Summary of TBK1 CNV detected in NTG pedigrees
| Pedigree (ancestry) | CNV (kb) | Diagnosed age (years) | Max IOP (mmHg, OD/OS)/ Cup-to-disc ratio (first examination, OD/OS) | Reference | ||||
|---|---|---|---|---|---|---|---|---|
| GGO-441 (African-American) | Duplication (690–780) | 36±8.2 | 18.2±4.1/16.7±3.6/ 0.95±0.083/0.93±0.10 | [53] | ||||
| GGA-458 (German) | Triplication (646) | 29±6.7 | 19.0±4.3/18.8±3.8/ 0.85±0.071/0.85±0.071 | [55] | ||||
| GGJ-414 (Japanese) | Duplication (296) | 42 (II-4) | 18/17 (II-4)/ 0.75/0.7 (II-4) | [54] | ||||
| AG604 (Australian) | Triplication (347) | 60 (AG604) | 12/12 (AG604)/ 0.95/0.95 (AG604) | [56] | ||||
| AG624 (Australian) | Duplication (406) | 44 (AG624) | 17/17 (AG624)/ 0.95/0.90 (AG624) | [56] | ||||
| AG724 (Australian) | Duplication (406) | 43 (AG724) | 14/14 (AG724)/ 0.80/0.90 (AG724) | [56] | ||||
| GFMC524 (Australian) | Duplication (442) | 32 (GFMC524) | 13/13 (GFMC524)/ 0.85/0.85 (GFMC524) | [56] | ||||
| S227 (Korean) | Duplication (124) | 48±16 (39–68) | 15.0±1.7/15.0±2/ - | [57] |
CNV=copy number variation, IOP=intraocular pressure, NTG=normal tension glaucoma, OD/OS=oculus dexter/oculus sinister, TBK1=TANK binding kinase 1