Table 3 of
Yaylacioglu Tuncay, Mol Vis 2016; 22:1267-1279. Table 3 of
Yaylacioglu Tuncay, Mol Vis 2016; 22:1267-1279.
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 |