Table 2. Clinical findings in patients with the recurrent c.70del20 mutation in SOX2.
| Reported case | 1 | 2 | 3 (sibling) | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Right Eye |
AN |
NOR |
NOR |
MI |
AN |
AN |
AN |
MI |
AN |
AN |
MI, ONH |
| Left Eye |
AN |
AN |
NOR |
AN |
ASD, CA, COL, GL |
AN |
AN |
MI |
AN |
AN |
NOR |
| Other Anomalies |
Yes |
Yes |
Yes |
Yes |
Yes |
No |
Yes |
Yes |
Yes |
Yes |
Yes |
| Reference | [17] | [15] | [15] | [12] | [10] | [10] | [3] | [11] | [11] | [11] | This study |
The reported cases are numbered based upon date of publication. In the table AN indicates Anophthalmia; MI indicates Microphthalmia; ASD indicates Anterior segment dysgenesis; CA indicates Cataract; COL indicates Coloboma; GL indicates Glaucoma; NOR indicates Normal; and ONH indicates Optic nerve hypoplasia.