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. 2010 Jan 12;16:26–35.

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).