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