Table 1 of Aldahmesh, Mol Vis 2010; 16:207-212.
This study | Littink et al. [13] | Zeitz et al. [10] | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
Feature |
Patient 1 (II-2) | Patient 2 (II-3) | Patient 3 (II-4) |
Patient 4 (II-6) | 1 |
2 |
1 |
2 |
3 |
|
Mutation | c.81_82insA | c.646C>T | c.800_801delAG | c.800_801delAG/c.370C>T | ||||||
Age | 16 | 15 | 12 | 6 | 12 | 10 | 39 | 45 | 15 | |
Sex | F | F | F | M | M | F | M | M | M | |
Onset of vision loss | congenital | congenital | congenital | congenital | early childhood | early childhood | early childhood | early childhood | early childhood | |
Nystagmus | + Resolved lately | + | + | + | + | + | + | + | - | |
Visual Acuity | OD | 20/400 | 20/400 | 20/400 | 20/400 | 20/200 | 20/200 | 20/200 | 20/200 | 20/30 |
OS | 20/400 | 20/400 | Counting Fingers | 20/400 | 20/200 | 20/400 | 20/200 | 20/400 | 20/30 | |
Refraction | OD | +1 | +7.5 | +7.5 | +4.5 | +5 | +4.5 | ? | ? | ? |
OS | +2.5 | +7.5 | +7.5 | +5 | +5.5 | +4.5 | ? | ? | ? | |
Fundus | Minimal changes | Normal | Normal | Normal | Minimal changes | Normal | Absent foveal reflexes | Normal | Normal | |
ERG | Flat | Flat | Borderline scotopic, severely decreased photopic | Flat | Normal scotopic, severely decreased photopic | Decreased scotopic, severely decreased photopic | Normal “a” wave, reduced “b” wave | Similar to but milder than (1) | Normal “a” wave, reduced “b” wave | |
Night blindness | No | No | No | No | No | No | No | No | Yes |