Table 1 of Cao, Mol Vis 2009; 15:70-75.


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