Table 2. Phenotypic features of POAG patients and genotypes of patients with identified mutations.
| Patient | Gender | Age at diagnosis | Affected eye | IOP max (mm Hg) right/left | C/D ratio right/left | Juvenile/ late-onset | Inheritance (f/s) |
CYP1B1 genotype |
CYP1B1 haplotype¥ | MYOC haplotype‡ | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| By PrASE/ microarray | By sequencing | ||||||||||
| JG-R-211 |
M |
27 |
Bilateral |
29/31 |
0.8/0.9 |
J |
f |
R390H/R390H |
R390H/R390H |
H2 |
H2 |
| JG-L-221 |
F |
37 |
Bilateral |
28/34 |
0.85/0.95 |
J |
f |
G61E/G61E |
G61E/G61E |
H1 |
H2 |
| JG-M-4 |
F |
25 |
Bilateral |
32/30 |
0.9/0.9 |
J |
f |
G61E/G61E |
G61E/G61E |
H1 |
H1/H2 |
| LG-L-214 |
M |
48 |
Bilateral |
24/28 |
0.7/0.8 |
L |
f |
G61E/+ |
G61E/+ |
H1/H3 |
H2 |
| JG-R-226 |
M |
32 |
Bilateral |
28/28 |
0.9/0.9 |
J |
f |
R368H/+ |
R368H/E229K |
H1/H3 |
H1/H2 |
| JG-B-5 |
M |
17 |
Bilateral |
22/29 |
0.3/0.4 |
J |
? |
R368H/+ |
R368H/+ |
H1 |
H1 |
| LG-R-234 |
F |
78 |
left |
/34 |
/0.8 |
L |
s |
R368H/+ |
R368H/+ |
H1/H2 |
H2 |
| Patients without identified mutation | 33M/ 23F | 51.9 (24.9 for JG/ 62.7 for LG)* | 39 bilateral /11 right/ 6 left | 29.1* | 0.8/0.7* | 16J/40L | 39f/18s/6? | ||||
All data pertain to probands. The asterisk denotes average figures for patients without identifeid mutations. The sharp (hash mark) indicates haplotpes defined by nucleotides at SNP positions IVS1-13, c.142, c.355, c.1294, c.1347 and c.1358 (NM_000104.2); H1: -CCGGTA-; H2: -TGTCCA-; H3: -CCGCCA-. The double dagger (‡) indicates haplotypes defined by nucleotides at SNP positions c.-83, c.227 and IVS2+35 (NM_000261); H1: -GGG-; H2: -GGA-. In the table M=male; F=female; J=juvenile-onset POAG; L=late-onset POAG; f=familial; s=sporadic.