Table 1.
Phenotype comparison of patients with and without identified mutations
| No mutation identified | OTX2 mutation | SOX2 mutation | STRA6 mutation | Total | Molecular diagnostic rate | |
|---|---|---|---|---|---|---|
| Cases (families) | 36 (36) | 6 (5) | 11 (9) | 1 (1) | 54 (51) | 33.3 (29.4) |
| Male:Female | 16:20 | 2:4 | 5:6 | 1:0 | 24:30 | 33.3:33.3 |
| Ocular phenotype | ||||||
| Bilateral anophthalmia | 3 | 3 | 5 | 1 | 12 | 75.0 |
| Unilateral anophthalmia | 23 | 2 | 52 | 0 | 30 | 23.3 |
| Bilateral microphthalmia | 3 | 0 | 0 | 0 | 3 | 0.0 |
| Unilateral microphthalmia | 7 | 0 | 0 | 0 | 7 | 0.0 |
| Bilateral iris/chorio-retinal coloboma | 0 | 0 | 12 | 0 | 12 | |
| Unaffected | 0 | 12 | 0 | 0 | 12 | |
| No light perception in both eyes1 | 6 | 4 | 7 | 1 | 18 | 66.7 |
| Extraocular abnormalities | ||||||
| Intracerebral MRI (excluding optic tract) | 11/213 | 1/5 | 6/8 | 0/1 | ||
| Facial clefts | 6 | 0 | 0 | 0 | ||
| Extremities | 3 | 1 | 0 | 0 | ||
| Ear abnormalities | 5 | 1 | 0 | 0 | ||
| Heart | 5 | 0 | 0 | 0 | ||
| Kidney | 3 | 0 | 0 | 0 | ||
MRI, magnetic resonance imaging.
1
At most recent visit.
2
One parent (mother) affected.
3
Available data.