Table 1 of Aldahmesh, Mol Vis 2010; 16:207-212.


Table 1. Phenotype of patients with CABP4 mutations.


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