Table 3. Clinical features of patients with either CYP1B1 mutations or no detected mutations.
| Family (Patient number) | CYP1B1 mutation | Gender/ laterality | Age at diagnosis (months) | aIOP (mm Hg) at diagnosis (OD/OS) | Initial surgery (OD/OS) | Number of glaucoma surgical interventions (OD/OS) | Age at last follow up (years) | Visual Acuity (Snellen chart) (OD/OS) | Corneal status (OD/OS) | Cup/disc ratio (OD/OS) |
|---|---|---|---|---|---|---|---|---|---|---|
| PCG 2 (II:1) |
p.G61E/p.T404fsX30 |
F/B |
1 |
28/40 |
G/G |
4/2 |
31 |
0.8/HM |
C/C |
ND/ND |
| PCG 21 (III:1) |
p.R390S/p.A179fsX18s |
M/B |
2 |
ND/ND |
G/G |
>1/>1 |
30 |
A/1 |
A/C |
A/0.4 |
| PCG 5 (III:1) |
p.R355fsX69/p.G61E |
M/B |
24 |
28/26 |
G/G |
>1/>1 |
26 |
1/1 |
C/C |
0.3/0.3 |
| PCG 3 (III:3) |
p.P52L/+ |
M/B |
ND |
ND/ND |
G/G |
2/2 |
15 |
0.3/LP |
C/MSS |
0.3/0.8 |
| PCG 4 (III:2) |
p.Y81N/+ |
M/U (OS) |
23.5 |
16/30 |
-/CTT |
0/1 |
6 |
0.9/1 |
C/C |
0.2/0.2 |
| PCG 1 (IV:2) |
p.R355fsX69/p.F261L |
F/U (OD) |
0 |
23/12 |
-/CTT |
1/0 |
3 |
1/1 |
C/C |
0.2/0.2 |
| PCG 25 (II:1) |
p.R469W/p.T404fsX30 |
M/B |
0 |
25/37 |
G/G |
2/1 |
30 |
1/0.7 |
ND/ND |
ND/ND |
| PCG 25 (II:2) |
p.R469W/p.T404fsX30 |
F/B |
0 |
ND/ND |
ND/ND |
ND/ND |
32 |
LP/LP |
ND/ND |
ND/ND |
| PCG 27 |
p.T404fsX30/p.R355fsX69 |
M/B |
2 |
27/29 |
T/T |
2/2 |
4 |
0.25/0.15 |
C/MSS |
0.8/UA |
| PCG 28 |
p.E173X/p.P400S |
M/B |
0 |
32/30 |
T/T |
3b/3b |
8 |
0.3/0.3 |
C/C |
0.8/0.9 |
| PCG 29 |
p.E262X/p.P513_K514del |
F/B |
2 |
18/24 |
T/T |
4b/3b |
6 |
0.9/Ac |
C/C |
0.6/UA |
| PCG 32 |
p.T404fsX30/p.P513_K514del |
M/B |
1 |
38/39 |
G/G |
4/2 |
29 |
ND/ND |
CCE/C |
ND/ND |
| PCG 34 |
p.W341X/p.T404fsX30 |
M/B |
0 |
20/20 |
G/G |
5/2 |
38 |
0.5/0.5 |
C/C |
ND/ND |
| PCG 45 |
p.P437L/p.A106D |
F/B |
36 |
16/32 |
T/T |
2b/2b |
ND |
0.4/0.6 |
ND/ND |
ND/ND |
| PCG 26 |
- |
F/B |
0 |
35/35 |
ND/ND |
2/2 |
ND |
ND/ND |
ND/ND |
ND/ND |
| PCG 10 |
- |
M/B |
9 |
30/30 |
G/G |
3/2 |
30 |
0.05/LP |
CCE/CCE |
UA/UA |
| PCG 22 |
- |
F/U (OS) |
18 |
ND/ND |
-/Tt |
0/1 |
30 |
1/LP |
C/CCE |
0.3/UA |
| PCG 11 |
- |
F/U (OS) |
ND |
ND/ND |
-/G |
0/1 |
27 |
1/1 |
C/C |
0.3/0.3 |
| PCG 9 |
- |
M/B |
0.5 |
ND/ND |
CTT/CTT |
3/3 |
24 |
Ad/Ae |
d/e |
d/e |
| PCG 15 |
- |
M/B |
4 |
20/20 |
Tt/Tt |
1/1 |
24 |
1/1 |
C/C |
0.2/0.2 |
| PCG 6 |
- |
M/U (OS) |
15 |
12/20 |
-/Tt |
0/1 |
24 |
1/1 |
C/C |
0.2/0.2 |
| PCG 13 |
- |
M/U (OS) |
4 |
ND/ND |
-/G |
0/2 |
22 |
1/Ae |
C/e |
0.3/e |
| PCG 8 |
- |
M/B |
2.5 |
22/22 |
CTT/CTT |
1/1 |
17 |
1/1 |
C/C |
0.2/0.2 |
| PCG 14 |
- |
M/B |
1 |
22/22 |
CTT/CTT |
1/1 |
16 |
1/0.7 |
C/MSS |
0.3/0.4 |
| PCG 7 |
- |
M/B |
5.5 |
20/20 |
CTT/CTT |
2/1 |
12 |
0.3/LP |
C/CCE |
UA/UA |
| PCG 12 |
- |
M/B |
15 |
22/24 |
CTT/CTT |
1/1 |
12 |
0.8/0.8 |
MSS/MSS |
0.3/0.7 |
| PCG 16 |
- |
M/U (OD) |
0.6 |
23/10 |
CTT/- |
1/0 |
11 |
0.5/1 |
C/C |
0.2/0.2 |
| PCG 17 |
- |
M/U (OS) |
6 |
10/20 |
-/CTT |
0/1 |
5 |
1/0.05 |
C/MSS |
0.3/0.3 |
| PCG 18 |
- |
M/U (OD) |
1 |
17/10 |
CTT/- |
1/0 |
5 |
0.5/1 |
C/C |
0.2/0.2 |
| PCG 19 |
- |
F/B |
28.5 |
20/20 |
CTT/CTT |
1/1 |
3 |
ND/ND |
C/C |
ND/ND |
| PCG 25b |
- |
M/B |
ND |
ND/ND |
ND/ND |
ND/ND |
29 |
A/A |
ND/ND |
ND/ND |
| PCG 30 |
- |
M/B |
0 |
23/28 |
G/G |
3/2 |
8 |
0.7/0.5 |
C/C |
0.4/0.4 |
| PCG 33 |
- |
M/B |
3 |
26/35 |
G/G |
4/4 |
27 |
LP/LP |
KB/PB |
ND/ND |
| PCG 35 |
- |
F/B |
3 |
20/20 |
G/G |
3/3 |
28 |
0.5/0.5 |
C/C |
ND/ND |
| PCG 36 |
- |
M/B |
4 |
15/15 |
G/G |
3/1 |
2 |
ND/ND |
C/C |
ND/ND |
| PCG 41 |
- |
F/B |
10 |
40/40 |
G/G |
3/5 |
ND |
ND/ND |
ND/ND |
0.9/0.9 |
| PCG 42 |
- |
M/B |
4 |
38/30 |
G/T |
3/2 |
ND |
ND/ND |
ND/ND |
0.8/0.8 |
| PCG 43 |
- |
M/B |
7 |
22/30 |
ND/ND |
ND/ND |
ND |
ND/ND |
ND/ND |
0.2/0.3 |
| PCG 44 | - | M/B | 48f | 13/24 | G/G | >1b/>1b | ND | 0.5/0.4 | d/CCE | UA/UA |
Visual acuity was evaluated with a Snellen chart. Genotypes combining two CYP1B1 null alleles are indicated in bold. A/HM/LP: amaurosis/hand movements/light perception; B/U: bilateral/unilateral; C/CCE/MSS: clear/chronic corneal edema/mild stromal scarring; CTT/G/T/Tt: combined trabeculotomy-trabeculectomy/goniotomy/trabeculectomy/trabeculotomy; KB/PB: keratopathy in band/peripheral defect; F/M: female/male; ND: not determined; OD/OS: right eye/left eye; UA: unassessable; aIOP under general anesthesia; bincluding Ahmed valve; cpersistent fetal vasculature unrelated to glaucoma; dptisis bulbi; eeviscerated eye; fdelayed diagnosis.