Table 3 of Campos-Mollo, Mol Vis 2009; 15:417-431. Table 3 of Campos-Mollo, Mol Vis 2009; 15:417-431.
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 |