Table 2 of
Wang, Mol Vis 2021; 27:528-541. Table 2 of
Wang, Mol Vis 2021; 27:528-541.
Table 2. Demographic and clinical data of twelve FEVR patients with the novel KIF11 c.2153A>T (p. H718L) mutation.
| Proband No. | Gender | Age at presentation | Visual acuity | Axial length(mm) | Stage | Systemic clinical findings | |||
|---|---|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | OD | OS | ||||
| 1 | F | 2y | NA | NA | 21 | 20.8 | 4A | 4A | Normal |
| 2 | F | 5m | NA | NA | 16.7 | 15.9 | 5B | 5B | Normal |
| 3 | M | 8y | 0.3 | 0.5 | 20.8 | 21.5 | 1A | 1B | Microcephaly (−2D); Mild learning difficulties |
| 4 | F | 1m | NA | NA | 19.4 | 15.9 | Normal | 5B | Normal |
| 5 | M | 2m | NA | NA | 15.1 | 15.6 | 4A | 4A | Microcephaly (−2D); Mild learning difficulties |
| 6 | M | 9m | NA | NA | 19.6 | 21.6 | 4B | 1A | Normal |
| 7 | M | 6y | 1 | FC/20cm | 21.1 | 20.5 | Normal | 4A | Normal |
| 8 | M | 4y | LP | 0.6 | 17.7 | 20.1 | 4A | 1 | Normal |
| 9 | M | 1y | NA | NA | 16.6 | 20.9 | 5b | Normal | Normal |
| 10 | M | 5m | NA | NA | 17.8 | 18.1 | 1 | 1 | Normal |
| 11 | M | 4m | NA | NA | 17.3 | 15.2 | 1 | 5B | Normal |
| 12 | M | 5m | NA | NA | 18.2 | 15.7 | 1B | 5B | Normal |