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 | |
NPL: No Perception of Light. PL: Perception of Light. FF: Fixation and Follow. HM: Hand Movement TC: Total Cupping. NR: Not Recordable. IOP: Intraocular Pressure