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) FamilyHistory 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