Table 1 of
Kim, Mol Vis 2013; 19:935-943. Table 1 of
Kim, Mol Vis 2013; 19:935-943.
Table 1. Clinical features of the family.
| Parameters | Patient I:1 | Patient II:1 | Patient II:2 | Patient II:3 | ||||
|---|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | OD | OS | OD | OS | |
| Ocular characteristics | ||||||||
| BCVA | 0.5 | LP(-) | 0.1 | 1 | 3m FC | 1 | 1 | 1 |
| Refraction(spherical equivalent) | plano | +0.50sph | +0.50sph | +2.00sph | −1.50sph | −0.75sph | +0.25sph | |
| IOP (mmHg) | 26 | 36 | 36 | 24 | 32 | 24 | 24 | 30 |
| Corneal diameter(mm) | 12 | 12 | 12.5 | 12.5 | 12 | 12 | 11.5 | 11.5 |
| ECC count(cell/mm2) | 768 | 903 | 1078 | 1494 | 1323 | 2385 | 2486 | 1478 |
| Central corneal thickness(µm) | 529 | 532 | 541 | 525 | 573 | 537 | 584 | 606 |
| Posterior embryotoxon | - | - | - | - | +(N, T) | +(N) | +(N, T) | +(N, T) |
| Haab’s striae | + | + | + | + | + | - | - | + |
| C/D ratio | Nearly total cupping | Nearly total cupping | 0.9 | 0.6 | 0.5 | 0.3 | 0.5 | 0.5 |
| V/F: mean deviation (db) | −32.8 | −33.06 | −29.1 | −4.02 | −8.27 | −4.02 | −3.61 | −4.92 |
| Systemic abnormalities | ||||||||
| Flat nose | + | + | + | + | ||||
| Hypertelorism | + | + | + | + | ||||
| Telecanthus | + | + | + | + | ||||