Table 1. Clinical features of probands with primary congenital glaucoma.
| Patient ID | Mutation | Gender | Csg. parent C/NC | Age at onset | Age at diag. | Laterality | IOP Max (mmHG) (R/L) | Corneal Diam. (mm; R/L) | C/D ratio (mm;R/L) | Corneal opacities R/L | Corneal Edema R/L | Haab’s striae R/L | Trab R/L | LVA R-L | Prognosis |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
A- Patients with CYP1B1 mutation | |||||||||||||||
| PCG-1-II.5 |
p.E173K/ g.4339delG |
M |
C |
2m |
2m |
B |
45/50 |
14/14 |
#/0.8 |
+/+ |
+/+ |
+/+ |
Mult/Mult |
#-# |
NRSM |
| PCG-11-II.1 |
g.4339delG/ p.V364M |
M |
NC |
2m |
17m |
B |
24/38 |
13/14 |
0.1/# |
+/+ |
+/+ |
#/# |
1/1 |
#-# |
bad |
| PCG-14-II.2 |
p.R368H/w |
M |
NC |
2m |
9m |
B |
26/47 |
11.5/16 |
0.1/# |
-/+ |
−/− |
-/+ |
1/1 |
#-blind |
NRSM |
| PCG-20-II.2 |
p.G61E/p.G61E |
M |
NC |
5y |
6y |
B |
29/28 |
14/15 |
0.8/0.9 |
+/+ |
−/− |
+/+ |
1/1 |
#-# |
bad |
| PCG-28-II.2 |
p.E173K/ g.4339delG |
F |
C |
birth |
37d |
B |
34/30 |
14/13.5 |
0.6/0.6 |
+/− |
+/+ |
−/− |
1/2 |
blind-3/10 |
#/# |
| PCG-29-III.3 |
g.4339delG/p.G61E |
M |
NC |
8m |
B |
30/25 |
15/15 |
#/0.7 |
+/+ |
−/− |
+/+ |
1/1 |
#-# |
NRSM |
|
| PCG40-IV.6 |
p.R390S/ p.R390S |
M |
C |
birth |
16d |
B |
>50/>50 |
12/11.5 |
#/# |
+/+ |
+/+ |
+/+ |
Mult/Mult |
-enucl |
bad |
| PCG-45-II.3 |
p.G61E/p.G61E |
F |
C |
14y |
B |
23/38 |
15/15 |
0.3/0.7 |
-/+ |
+/+ |
-/+ |
1/1 |
1/10-blind |
bad |
|
| PCG-47-II.3 |
p.G61E/p.G61E |
M |
NC |
2m |
3m |
B |
32/35 |
15/14 |
0.6/0.5 |
+/+ |
-/+ |
+/+ |
2/2 |
#-# |
bad |
| PCG-58-V.2 |
g.7901-7913del |
F |
C |
4m |
9m |
B |
35/44 |
14/14 |
#/# |
+/+ |
+/+ |
+/+ |
1/1 |
LP-LP |
bad |
| PCG-64-III.1 |
g.4330–4431delTG/ g.4339delG |
F |
NC |
birth |
45d |
B |
28.5/32.6 |
16/16 |
0.5/0.7 |
+/+ |
+/+ |
+/+ |
1/Mult |
2/10–2/10 |
NRSM |
| PCG-75-IV.1 |
p.R469W/ p. R469W |
F |
C |
6m |
9m |
B |
/26 |
14/13 |
0.4/0.3 |
−/− |
−/− |
−/− |
|||
| PCG-79-III.3 |
g.4339delG/p.G61E |
M |
NC |
3m |
4m |
B |
28/38 |
1/1 |
+/+ |
+/+ |
+/+ |
1/1 |
#-# |
bad |
|
| PCG-84-V.2 |
g.4330–4431delTG/g.4330–4431delTG |
F |
C |
birth |
3m |
B |
27/31 |
11/12 |
#/# |
-/+ |
−/− |
−/− |
1/ |
||
| PCG-89-V.3 |
p.G61E/p.G61E |
F |
C |
birth |
2m |
B |
28/28 |
14/12 |
0.6/0.3 |
+/+ |
+/+ |
+/+ |
1/1 |
1/10–1/10 |
NRSM |
| PCG-95-III.1 |
g.4339delG/g.7901-7913del |
F |
NC |
1m |
5m |
B |
53/49 |
14/14 |
#/# |
+/+ |
+/+ |
+/+ |
1/1 |
#/# |
bad |
| PCG-97-II.3 |
p.G61E/p.G61E |
M |
C |
birth |
11y |
B |
16/22 |
0.3/1 |
-/+ |
-/+ |
-/+ |
1/2 |
2/10–1/10 |
bad |
|
| PCG-100-II.3 |
p.C470Y/ p.C470Y |
F |
C |
birth |
50d |
B |
42.2/44.7 |
12–13/11 |
#/# |
+/+ |
+/+ |
+/+ |
1/1 |
#/# |
bad |
| PCG-101-III.3 |
p.R163C/w |
F |
C |
3m |
7m |
B |
20/21 |
13/14 |
#/# |
-/+ |
+/+ |
−/− |
/1 |
LP/LP |
|
|
B-Patient with MYOC mutation | |||||||||||||||
| PCG-009-II.3 | p.T193K | M | NC | 2m | 6m | B | 32/36 | 15/15 | #/# | +/+ | +/+ | +/+ | 2/2 | #/# | NRSM |
A- Probands with CYP1B1 mutations. Clinical features of probands with homozygous g.4339delG, which are not shown in this table, are reported in Berraho et al. (article in preparation), B- Proband with MYOC mutations. Unknown phenotypic features are left in blank, Age at onset: Age of symptoms apparition, Age at diagnosis: age at the first examination where the PCG was diagnosed, M: male, F: female, d: days, m: month, y: year, Csg: Consanguinity, C: consanguineous, NC: non consanguineous, IOP: intraocular pression, C/D: cup-to-disk ratio, Trab: trabeculectomy, Mult: multiple, enucl: enucleated, LVA: Last visual acuity, R: right eye, L: left eye, LP: light perception, # unable to measure, NRSM: no response to surgery and medication.