Table 2. Clinical characteristics of normal individuals of LUGL06 homozygous for p.A115P.
| Family ID (Mutation) Patient No | Disease status | Current age | Corneal diameter |
Corneal edema |
Corneal opacity |
Habbs’ Striae |
IOP (mmHg) |
Visual acuity |
C/D ratio |
|---|---|---|---|---|---|---|---|---|---|
| OS/OD (mm) | OS/OD | OS/OD | OS/OD | OS/OD | OS/OD | ||||
| LUGL06 (p.A115P) | |||||||||
| III:1 |
Normal |
25 |
11/10 |
−/− |
−/− |
−/− |
12/14 |
6/6 |
0.2/0.3 |
| IV:3 |
Normal |
32 |
11/10.5 |
−/− |
−/− |
−/− |
13/12 |
6/6 |
0.2/0.2 |
| IV:4 |
Normal |
20 |
12/11 |
−/− |
−/− |
−/− |
14/13 |
6/6 |
0.3/0.2 |
| IV:12 |
Normal |
29 |
12/12 |
−/− |
−/− |
−/− |
14/14 |
6/6 |
0.3/0.2 |
| IV13 | Normal | 40 | 11/11.5 | −/− | −/− | −/− | 12/12 | 6/6 | 0.3/0.3 |