Table 1 of
Sheikh, Mol Vis 2014; 20:991-1001. Table 1 of
Sheikh, Mol Vis 2014; 20:991-1001.
Table 1. Clinical features of PCG patients with CYP1B1 mutations.
| Family ID (mutation) patient No | Current age | Corneal diameter | Corneal edema | Corneal opacity | Haabs’ Striae | IOP (mmHg) | Visual acuity | C/D ratio | Surgery | |
|---|---|---|---|---|---|---|---|---|---|---|
| Years | OS/OD (mm) | OS/OD | OS/OD | OS/OD | OS/OD | OS/OD | OS/OD | |||
| LUGL02 (p.R390H) | ||||||||||
| IV:4 | 25 | NR/NR | NR/NR | ++/++ | −/− | NR/15 | NPL/NPL | NR/NR | OS Trab | |
| V:3 | 5 | 14/11.5 | -/NR | -/++ | −/− | 17/29 | 6/36/NR | NR/0.3 | OS Trab | |
| V:4 | 6 | 14/14 | −/− | −/− | −/− | 17/29 | 6/12;6/24 | 0.2/0.5 | Bilateral Trab | |
| V:5 | 1 | 15/14 | +/NR | -/++ | +/NR | 17/40 | NR/NR | NR/NR | OS Trab | |
| V:6 | 1.5 | 14/14 | +/NR | -/++ | −/− | 35/35 | FF/NR | 0.4/NR | OS Trab | |
| V:7 | 2.5 | 13/11.5 | NR/NR | ++/++ | −/− | 40/40 | NR/NR | NR/NR | Bilateral Trab | |
| LUGL03 (p.R390H) | ||||||||||
| IV:2 | 2.5 | 13/11.5 | NR/NR | ++/++ | −/− | 40/40 | NR/NR | NR/NR | Bilateral Trab | |
| LUGL15 (p.R390H) | ||||||||||
| IV:1 | 16 | 16/15.5 | NR/NR | +/+ | NR/NR | 30/35 | NPL/NPL | NR/NR | Not Done | |
| IV:2 | 7 | NR/NR | NR/NR | ++/++ | NR/NR | NR/NR | NPL/NPL | NR/NR | Not Done | |
| IV:3 | 19 | 15/15 | +/+ | +/+ | +/+ | 18/20 | 6/36;6/36 | 0.7/0.8 | Bilateral Trab | |
| LUGL17 (p.R390H) | ||||||||||
| V:4 | 11 | 10.3/10.4 | −/− | −/− | −/− | 14/17 | 6/24;6/18 | 0.8/0.9 | Bilateral Trab | |
| LUGL19 (p.R390H) | ||||||||||
| IV:4 | 18 | NR/NR | NR/NR | NR/NR | ++/++ | 40/35 | NPL/NPL | NR/NR | Not Done | |
| IV:5 | 33 | NR/NR | NR/NR | NR/NR | NR/NR | NR/NR | NR/NR | NR/NR | Bilateral | |
| V:3 | 7 | 15/15 | ++/++ | −/− | −/− | 38/32 | HM/HM | NR/NR | Bilateral Trab | |
| V:4 | 2 | 15/12 | ++/++ | −/− | −/− | 40/35 | FF/FF | NR/NR | Bilateral Trab | |
| LUGL06 (p.A115P) | ||||||||||
| IV:5 | 2.5 | 15.5/15 | +/+ | +/+ | −/− | 16/25 | FF/FF | 0.7/0.5 | OS Trab | |
| IV:10 | 30 | 15.5/15 | NR/+ | +/++ | NR/NR | 40/16 | NPL/CF | TC/0.2 | OD Trab | |
| IV:11 | 16 | 15.5/15 | +/NR | +/++ | +/NR | 24/40 | NPL/NPL | NR/NR | OS Trab | |
| LUGL07 (p.E229K) | ||||||||||
| IV:3 | 19 | 15/15 | NR/NR | ++/++ | NR/NR | 41.5/NR | NPL/NPL | NR/NR | OS Trab | |
| IV:4 | 20 | 15/15 | NR/NR | ++/++ | NR/NR | 26.6/24 | PL/PL | NR/NR | Bilateral Trab | |
| IV:5 | 16 | 15/15 | NR/NR | ++/++ | NR/NR | 24.4/NR | NPL /NPL | NR/NR | OD Trab | |
| LUGL08 (p.G36D) | ||||||||||
| 4 | 16/11 | ++/++ | ++/++ | +/NR | 35/29 | NPL/FF | NR/NR | Bilateral Trab | ||
| IV:3 | 3 | 41,980 | ++/NR | ++/++ | NR/NR | 29/5 | FF/NPL | NR/NR | OS Trab | |
| IV:5 | 23 | NR | NR | ++/++ | NR/NR | NR/NR | NPL/NPL | NR/NR | Not Done | |
| IV:6 | 38 | 16/15 | +/+ | −/− | −/− | 29/35 | NPL/NPL | TC/TC | Not Done | |
| LUGL09 (p.G67-A70del) | ||||||||||
| 2 | 41,987 | +/++ | +/−- | −/− | 40/40 | FF/NPL | 0.4/TC | |||
| IV:3 | 11 | 14/11.5 | −/− | –/– | −/− | 17/19 | 6/12;6/24 | 0.5/0.6 | Bilateral Trab | |
| LUGL13 (c.868_869InsC) | ||||||||||
| 32 | NR/NR | -/++ | -/++ | −/− | 41,922 | NPL/NPL | NR/NR | OS Trab | ||
| V:3 | 17 | 41,986 | +/+ | +/+ | -/+ | 41,988 | 1/60;1/60 | 0.9/0.9 | Bilateral Trab | |
| V:4 | 11 | 41,986 | ++/− | +/− | −/− | 41,933 | NPL/6/12 | NR/0.7 | Not Done | |
| V:5 | 19 | 16/NR | ++/++ | +/+ | NR/NR | 42/10 | NPL/NPL | NR/NR | Not Done | |