Table 2 of Li, Mol Vis 2021; 27:309-322.


Table 2. Clinical data of four novel probands with heterozygous GJA1 PPVs.

Family ID Clinic NM_000165 NM_000165 Gen- Age at BCVA Cornea diameter (mm) ACD(mm) IOP (mmHg) AL(mm)
  diagnosis Change Effect der exam OD OS OD OS OD OS OD OS OD OS
10,651-II:2 ODDD, MC c.124G>C p.E42Q M 7 years 0.2 0.2 7.5 7.5 NA NA 18.0 18.0 NA NA
10,779-II:4 MC, G c.738_739delTT p.Y247Pfs*60 M 39 years 1.2 0.1 8.0 8.0 2.00 2.00 43.0 70.7 NA NA
10,779-II:4§ MC, G c.738_739delTT p.Y247Pfs*60 M 49 years CF 0.4 8.0 8.0 2.00 2.00 13.0 18.0 NA 21.2
4371-II:1§ MC, G c.791_792delAA p.K264Ifs*43 M 37 years 0.5 0.8 9.0 9.0 1.85 2.26 39.7 15.7 NA NA
5395-II:2 PHH c.890_892delCTT p.S297del F 7 years 1.0 1.0 11.9 11.9 2.88 NA NA NA 21.1 21.4