Table 1 of Hilal, Mol Vis 2010; 16:1215-1226.
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 |