Table 3 of
Park, Mol Vis 2015; 21:1201-1209. Table 3 of
Park, Mol Vis 2015; 21:1201-1209.
Table 3. Clinical findings of Korean MCD patients carrying CHST6 mutations.
| Case No. | Age/Gender | Mutation | Age at detection (years) | Family History | Initial | Therapeutic procedures | Final VA | ||
|---|---|---|---|---|---|---|---|---|---|
| VA (Rt / Lt) | Pachy (Rt / Lt) | ECD (Rt / Lt) | (Rt / Lt) | ||||||
| 1 | 50/Male | c.521A>G / c.613C>T | 15 | + | NA | NA | NA | Keratoplasty, Both eyes | 0.4 / 0.25 |
| 2 | 41/Female | c.820G>A / c.922C>T | 41 | - | 1.0 /1.0 | 441 / 432 | 1377 /2237 | - | NA |
| 3 | 44/Male | c.557 C>G / c.613 C>T | 42 | - | 0.4 / 0.32 | 492 / 498 | - | - | NA |
| 4 | 35/Male | c.95C>A / c.613 C>T | 15 | - | 0.16 / 0.125 | 482 / 460 | - | Keratoplasty, Right eye | 0.5 / 0.8 |
| 5-1 | 15/Female | c.353 C>T / c.1072 T>C | 11 | + | 0.8 / 0.8 | 407 / 405 | - | - | 0.4 / 0.4 |
| 5-2 | 19/Female | c.353 C>T / c.1072 T>C | 15 | + | 0.63 / 0.32 | 425 / 445 | - | - | 0.32 / 0.2 |
| 6 | 15/Female | c.613C>T / c.786delC | 10 | - | 0.4 / 0.4 | 455 / 436 | - | Keratoplasty, Left eye | 0.1 / 0.5 |