Table 2 of Hogewind, Mol Vis 2010; 16:26-35.
Patient |
Age (Y) |
Sex |
Mutation reported in WFS1 |
AoO (Y) |
Eye |
BCVA |
Media |
Papilla |
Visual field |
VEP |
Color vision |
HRT |
---|---|---|---|---|---|---|---|---|---|---|---|---|
II:2 | 85 | F | + | 30 | RE | 0.1 | Clear | Optic disc atrophy | Na | Na | Na | Na |
LE | 0.05 | Clear | Optic disc atrophy | Na | Na | Na | Na | |||||
III:2 | 57 | M | + | 11 | RE | 0.1 | Clear | Optic disc atrophy | Enlarged blind spot | Delayed response | Marked protan and deutan axes | Outside normal limits |
LE | 0.2 | Clear | Optic disc atrophy | Enlarged blind spot | Delayed response | Marked protan and deutan axes | Outside normal limits | |||||
III:3 | 50 | M | + | 10 | RE | 0.2 | Clear | Optic disc atrophy | Enlarged blind spot | Delayed response | Marked protan and deutan axes | Outside normal limits |
LE | 0.4 | Clear | Optic disc Atrophy | Enlarged blind spot | Delayed response | Marked protan and deutan axes | Outside normal limits | |||||
IV:1 | 26 | F | - | 11 | RE | 1.6 | Clear | Normal | No significant alterations | Intact | Normal | Normal |
LE | 1.2 | Clear | Normal | No significant alterations | Intact | Normal | Normal | |||||
IV:2 | 23 | M | - | 11 | RE | 1.6 | Clear | Normal | No significant alterations | Intact | Normal | Normal |
LE | 1.6 | Clear | Normal | No significant alterations | Intact | Normal | Normal |