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) ─░mmunotype 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