Table 1. Clinical features in family members with the TGFB1 R124H mutation.
| Individual case | Gender | Age | Status | TGFBI genotype | Age at onset | Symptoms at onset |
Visual acuity at presentation |
|
|---|---|---|---|---|---|---|---|---|
| OD | OS | |||||||
| I1 |
M |
74 |
Affected |
wt/R124H |
24–28 |
FBS |
1.0 |
1.0 |
| II1 |
F |
56 |
Unaffected |
wt/R124H |
- |
- |
1.0 |
1.2 |
| II3 |
F |
49 |
Affected |
R124H/ R124H |
9 |
VA↓FBS. Ph |
10cm/CF |
10cm/CF |
| II4 |
M |
43 |
Affected |
R124H/ R124H |
11 |
VA↓FBS. Ph |
20cm/CF |
20cm/CF |
| II5 |
F |
41 |
Affected |
wt/R124H |
21 |
VA↓FBS |
0.8 |
0.8 |
| II6 |
F |
37 |
Unaffected |
wt/R124H |
- |
- |
1.0 |
1.0 |
| III2 |
F |
29 |
Affected |
wt/R124H |
22 |
FBS |
1.0 |
1.0 |
| III5 |
F |
27 |
Affected |
wt/R124H |
25 |
FBS |
1.0 |
1.0 |
| III6 |
F |
23 |
Unaffected |
wt/R124H |
- |
- |
1.0 |
1.0 |
| III7 |
F |
21 |
Unaffected |
wt/R124H |
- |
- |
0.8 |
1.0 |
| III9 |
F |
13 |
Unaffected |
wt/R124H |
- |
- |
1.0 |
1.0 |
| III10 |
F |
4 |
Unaffected |
wt/R124H |
- |
- |
1.0 |
1.0 |
| III11 | F | 11 | Unaffected | wt/R124H | - | - | 1.0 | 1.0 |
M: male, F: female, OD: right eye, OS: left eye, wt: wild type, wt/R124H: heterozygous R124H mutation, R124H/R124H: homozygous R124H mutation, VA↓: visual acuity decreased, FBS: foreign body sensation, Ph: photophobia, CF: count finger. Information that is not provided about clinically unaffected individuals is marked with a dash (-).