Table 1. Phenotype of patients with CABP4 mutations.
|
Feature |
This study |
Littink et al. [13] |
Zeitz et al. [10] |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |
Comparison of clinical and ERG characteristics of patients in this study and previously reported patients with CABP4 mutations.