Table 2. Number of index patients analyzed and distribution of mutations in MYOC and CYP1B1 found in the families studied.
| Type of glaucoma | MYOC analysis (n) | No. families with MYOC mutation | CYP1B1 analysis (n) | No. families with CYP1B1 mutation |
|---|---|---|---|---|
| Axenfeld-Rieger Syndrome |
5 |
- |
4 |
2/4 (50%) |
| Closed-angle glaucoma |
7 |
- |
- |
- |
| Glaucoma suspect |
1 |
- |
- |
- |
| Juvenile-onset open angle glaucoma |
18 |
1/18 (5.6%) |
21 |
2/21 (9.5%) |
| Normal tension glaucoma |
33 |
1/33 (3%) |
1 |
- |
| Ocular hypertension |
16 |
1/16 (6.2%) |
2 |
- |
| Pigmentary glaucoma |
1 |
- |
- |
- |
| Primary congenital glaucoma |
21 |
1/21 (4.8%) |
25 |
9/25 (36%) |
| Primary open angle glaucoma |
96 |
5/96 (5.2%) |
45 |
3/45 (6.7%) |
| Pseudoexfoliative glaucoma |
3 |
- |
- |
- |
| Unclassified |
6 |
- |
6 |
- |
| Total index patients | 207 | 9/207 (4.4%) | 102 | 16/102 (15.7%) |