Table 1 of Young, Mol Vis 2012; 18:3064-3069.


Table 1. Summary of known clinical features of the affected family members

Pedigree number Age Sex Age at diagnosis BCVA Highest recorded IOP (mmHg) Centralcorneal thickness (µm) Visual field defect Cup/Disc Ratio IOP treatment MYOC mutations
OD OS OD OS OD OS OD OS OD OS
V:3 35 F 34 6/6 6/6 37 36 569 566 N N 0.4 0.3 Latanoprost OU Gln368STOP/Thr377Met
V:5 34 F - 6/6 6/6 20 18 567 566 N N 0.4 0.4 - Gln368STOP/Thr377Met
V:6 29 M 26 6/18 6/5 54 29 582 584 Y Y 0.5 0.4 3 anti-glaucoma agents OS
Trabeculectomy OD age 27 Gln368STOP/Thr377Met
V:7 26 M - 6/5 6/6 19 19 552 556 N N 0.2 0.2 - Gln368STOP
V:8 26 F 25 6/5 6/5 41 37 547 547 N N 0.4 0.7 Bimatoprost OU Gln368STOP/Thr377Met
IV:9 63 F - 6/9 6/9 17 16 566 561 N N 0.5 0.5 - Gln368STOP