Table 2. Ophthalmological examination results.
| 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 |
For the patients the age in years (Y) is shown as well as whether they carry the WFS1 mutation and their age of onset of ophthalmological complaints (AoO). The results of ophthalmological examination tests are depicted for each eye separately. The mutation carrying individuals all have optic disc atrophy and decreased results of Snellen test for best corrected visual acuity (BCVA). The results of the tests for visual field, visually evoked potentials (VEP), color vision and Heidelberg Retinal Tomography (HRT) were impaired for the affected individuals. The not affected individuals showed normal results for these tests. Abbreviations: female (F); male (M); right eye (RE); left eye (LE); not available (Na).