Table 1 of Reis, Mol Vis 2010; 16:768-773. Table 1 of Reis, Mol Vis 2010; 16:768-773.
Table 1. Summary of ocular conditions and SOX2 mutations reported in this study.
Ocular condition |
Number of cases |
Bilateral |
Syndromic |
Number of mutations |
|---|---|---|---|---|
| Anophthalmia | 8 | 6/8 | 6/8 | 0 |
| Microphthalmia | 20 | 11/20 | 11/20 | 1 |
| A/M total | 28 | 17/28 | 17/28 | 1/28 |
| Anterior segment dysgenesis | 28 | 22/28 | 20/28 | 0 |
| Cataract | 14 | 14/14 | 1/14 | 0 |
| High myopia | 6 | 6/6 | 0/6 | 0 |
| Coloboma (isolated) | 5 | 3/5 | 0/5 | 0 |
| Glaucoma | 4 | 4/4 | 2/4 | 0 |
| Other eye defect | 4 | 4/4 | 4/4 | 0 |
| Non-A/M total | 61 | 53/61 | 27/61 | 0/61 |
| Total number | 89 | 70/89 | 44/89 | 1/89 |