Table 1
Ophthalmological details of affected individuals
| Cases | Corrected visual acuity | Palpabral aperture (mm) | Levator function (mm) | Aberrant movements | Chin elevation |
|---|---|---|---|---|---|
| Family 1 | |||||
| case 1.1 | R: 6/12 | 6 | 0 | Convergence on upgaze, adduction of the left eye. | yes |
| L: 6/12 | 6 | 0 | |||
| Family 2 | |||||
| case 2.1 | R: 6/6 | 8 | 1 | Convergence on up and down gaze | yes |
| L: 6/6 | 8 | 1 | |||
| case 2.2 | R: 6/60 | 4 | 3 | Bilateral nystagmoid movements on upgaze | yes |
| L: 6/6 | 4 | 4 | |||
| case 2.3 | R: HM | 3 | 0 | Bilateral convergence on upgaze | yes |
| L: 6/18 | 4 | 0 | |||
| Family 3 | |||||
| case 3.1 | R: 6/18 | 5 | 1 | Bilateral convergence on upgaze | yes |
| L: 6/12 | 3 | 0 | |||
| case 3.2 | R: 6/18 | 4 | 4 | Bilateral convergence on up and downgaze, depression of left eye on left gaze | yes |
| L: 6/18 | 4 | 2 | |||
| Family 4 | |||||
| case 4.1 | R: 6/12 | 6 | 11 | Nystagmoid movements in any attempted direction of gaze | yes |
| L: 6/12 | 6 | 11 | |||
| case 4.2 | R: 6/12 | 5 | 0 | Abduction of right eye on left gaze | yes |
| L: 6/60 | 5 | 0 | |||
| case 4.3 | R: 6/9 | 5 | 0 | None | yes |
| L: 6/6 | 4 | 0 | |||
| case 4.4 | R: 6/6 | 5 | 1 | Synergistic divergence on attempted lateral gaze | no |
| L: 6/9 | 5 | 1 |
