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


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