Table 3. Clinical findings of Turkish MCD patients carrying CHST6 gene variations.
| Patient no | Age/Sex | Family history | Consanguinity | Age at diagnosis | VA(OD/OS) | CCT(OD/OS) | Treatment | KS level (ng/ml) | İmmunotype | Variation |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 |
32/M |
+ |
+ |
18 |
0.05/0.7 |
NA |
OD-OS PPK |
0 |
I |
C246W |
| 2 |
42/M |
+ |
+ |
15 |
0.05/0.05 |
NA |
OD-OS PPK |
125 |
II |
M1L/- |
| 3 |
27/M |
+ |
- |
15 |
0.4/0.3 |
NA |
OD-OS PPK |
0 |
I |
P204S |
| 4 |
33/M |
- |
+ |
10 |
0.05/0.05 |
NA |
OD-OS PPK |
0 |
I |
Q298fs |
| 5 |
21/F |
- |
- |
13 |
0.6/0.5 |
482/475 |
- |
146 |
II |
- |
| 6 |
24/M |
- |
- |
10 |
0.1/0.2 |
452/444 |
OD-OS PPK |
0 |
I |
R155fs/P204S |
| 7 |
55/F |
- |
+ |
20 |
0.05/0.05 |
NA |
OD-OS PPK |
0 |
I |
Q298fs |
| 8 |
63/M |
+ |
+ |
20 |
0.05/0.05 |
NA |
OD-OS PPK |
0 |
I |
V176M |
| 9 |
29/F |
- |
- |
15 |
0.1/0.1 |
NA |
OD-OS PPK |
241 |
II |
V176M/F55S |
| 10 |
27/M |
+ |
+ |
15 |
0.2/0.4 |
445/430 |
- |
0 |
I |
R211W |
| 11 |
55/M |
+ |
+ |
20 |
0.16/0.1 |
NA |
OD-OS PTK |
0 |
I |
Q298fs |
| 12 |
25/M |
+ |
+ |
15 |
0.16/0.2 |
440/462 |
- |
0 |
I |
R211W |
| 13 |
27/F |
- |
- |
18 |
0.2/0.3 |
NA |
OD ALK |
203 |
II |
- |
| 14 |
48/M |
- |
+ |
18 |
0.1/0.2 |
NA |
OD PPK |
NA |
NA |
Q298fs |
| 15 |
37/F |
+ |
+ |
15 |
0.05/0.05 |
435/438 |
OS PPK |
0 |
I |
V176M |
| 16 |
26/F |
+ |
+ |
15 |
0.05/0.2 |
NA |
- |
305 |
II |
- |
| 17 |
18/F |
+ |
+ |
14 |
0.05/0.05 |
497/520 |
OS PTK |
0 |
I |
R211W |
| 18 | 32/M | - | + | 18 | 0.4/0.6 | 444/440 | OD-OS PTK | 0 | I | Q298fs |
OD: Right eye; OS: Left eye; ALK: Anterior lamellar keratoplasty; PPK: Partial penetrating keratoplasty, PTK: Phototheraupetic keratectomy, NA: Nonavailable