Table 2. Clinical findings of Turkish LCD1 and GCD1 patients carrying TGFBI variations.
| Patient no | Age/Sex | Diagnosis | Family history | Consanguinity | Age at diagnosis | BCVA (OD/OS) | Treatment | Variation |
|---|---|---|---|---|---|---|---|---|
| 1 |
28/F |
LCD1 |
+ |
- |
18 |
0.8/0.7 |
- |
R124C/- |
| 2 |
23/F |
LCD1 |
- |
- |
18 |
0.2/0.4 |
- |
R124C/- |
| 3 |
45/M |
LCD1 |
+ |
- |
24 |
0.05/0.4 |
OD ALK |
R124C/- |
| 4 |
40/M |
LCD1 |
- |
- |
20 |
0.4/0.5 |
OD-OS PTK |
R124C/- |
| 5 |
36/F |
GCD1 |
+ |
+ |
15 |
0.05/0.05 |
OD PPK |
R555W/- |
| 6 |
35/M |
GCD1 |
+ |
+ |
20 |
0.05/0.3 |
- |
R555W/- |
| 7 |
18/F |
GCD1 |
+ |
- |
10 |
0.9/0.8 |
- |
R555W/- |
| 8 |
53/M |
GCD1 |
+ |
- |
30 |
0.4/0.4 |
- |
R555W/- |
| 9 |
27/M |
GCD1 |
+ |
- |
20 |
0.05/0.05 |
OD-OS ALK |
R555W/R555W |
| 10 |
42/F |
GCD1 |
+ |
+ |
18 |
0.3/0.4 |
- |
R555W/- |
| 11 |
26/M |
GCD1 |
- |
- |
18 |
0.5/0.3 |
OS PTK |
R555W/- |
| 12 |
54/F |
GCD1 |
+ |
- |
30 |
0.6/0.5 |
- |
R555W/- |
| 13 |
40/M |
GCD1 |
+ |
- |
20 |
0.1/0.2 |
OD ALK |
R555W/- |
| 14 |
43/M |
GCD1 |
+ |
+ |
15 |
0.05/0.05 |
OD-OS PPK |
R555W/- |
| 15 |
35/F |
GCD1 |
- |
- |
20 |
0.4/0.3 |
- |
R555W/- |
| 16 | 33/F | GCD1 | + | - | 18 | 0.8/0.7 | - | R555W/-. |
OD: Right eye; OS: Left eye; ALK: Anterior lamellar keratoplasty; PPK: Partial penetrating keratoplasty, PTK: Phototheraupetic keratectomy, NA: Nonavailable