Table 3 of Yu, Mol Vis 2017; 23:296-304.


Table 3. ZNF469 mutations and quantitative and qualitative video-keratographic parameters evaluated in KC patients.

Subject ZNF469 mutations Age at detection Gender Eye Keratoplasty Severity (OS/OD) Video-keratography
pattern
1 c.3749C>T:p.P1250L 23 Male OU No Severe/ Severe IS/IS
2 c.3466G>A:p.A1156T 20 Male OU No Severe/Moderate IS/IS
3 c.2137C>A:p.P713T 16 Male OU No Severe/ Severe IS/Irregular
4 c.2059G>A:p.E687K 13 Male OU No Mild/Severe IS/PMD
5 c.4300G>A:p.D1434N 24 Male OU Yes Severe/ Severe IS/IS
6 c.4684G>A:p.E1562K 19 Male OU No Severe/Mild IS/IS
7 c.7262G>A:p.R2421H Na Male OU No Na/Na Na/Na