Mutations of the promoter region
| Mutation | Patient group No (%) | Control group No (%) | ||
|---|---|---|---|---|
| –83 G→A | 9/30 (30) | 14/36 (39) | ||
| (GT)n | n=13/13 | 13/30 (43) | 22/33 (67) | |
| 13/15 | 13/30 (43) | 7/33 (21) | ||
| 15/15 | 4/30 (13) | 3/33 (9.1) | ||
| 11/11 | 0/30 (0) | 1/33 (3.0) | ||
| −153 T→C | 1st survey | 5/30 (17) | 3/38 (7.9) | |
| 2nd survey | 11/53 (21) | 3/63 (4.8) | (p<0.01) | |
| (age matched) | ||||
| sum | 16/83 (19) | 6/101 (5.9) | (p<0.01) | |
The maximal intraocular pressure in these patients was 35 mm Hg, and most intraocular pressures were between 15 and 30 mm Hg.
↵Three controls with the –153 C mutation later underwent ophthalmological examination of the optic disc and glaucomatous visual field defects. Two had a diagnosis of evident glaucoma and the third (a 22 year old man) was a glaucoma suspect.