Table 2. Clinical features of individuals of this pedigree with JOAG.
| Pedigree number | Gender/ Age year | Onset Age year | BCVA OD/OS (2004) | BCVA OD/OS (2009) | Maxium IOP mmHg | IOP (OD/OS) (2004) mmHg | IOP (OD/OS) (2009) mmHg | Optic Disc (C/D) (OD/OS) (2004) | Optic Disc (C/D) (OD/OS) (2009) | Medical therapy (OD/OS) | Diagnosis (2004) | Diagnosis (2009) | N450Y |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| II:4 |
F/79 |
20 |
NLP |
NLP |
NA |
N/A |
NA |
1.0/1.0 |
1.0/1.0 |
NMT |
JOAG |
JOAG |
Yes |
| III:1 |
F/58 |
30 |
0.8/0.8 |
NA |
45/50 |
18/16 |
NA |
0.6/0.6 |
NA |
S/S |
JOAG |
NA |
NA |
| III:3 |
F/56 |
28 |
0.2/0.2 |
0.2/0.2 |
50/60 |
10/14 |
14/14 |
0.9/0.9 |
0.9/0.9 |
S/S |
JOAG |
JOAG |
Yes |
| III:5 |
M/52 |
31 |
0.2/0.2 |
0.8/0.8 |
53/40 |
20/20 |
16/15 |
0.8/0.4 |
0.8/0.4 |
S/S |
JOAG |
JOAG |
Yes |
| III:7 |
M/49 |
29 |
0.1/0.1 |
0.1/0.1 |
52/56 |
15/15 |
22/22 |
0.9/0.9 |
0.9/0.9 |
S/S |
JOAG |
JOAG |
Yes |
| III:10 |
M/45 |
28 |
0.1/0.1 |
0.1/0.1 |
55/55 |
31/21 |
35/28 |
0.9/0.9 |
0.9/0.9 |
S/S |
JOAG |
JOAG |
Yes |
| III:12 |
M/39 |
|
0.8/0.8 |
0.8/0.8 |
|
21/16 |
21/21 |
0.2/0.2 |
0.2/0.2 |
|
Normal |
Carrier |
Yes |
| IV:1 |
M/30 |
|
1.0/1.0 |
NA |
|
24/24 |
NA |
0.4/0.4 |
NA |
|
OHT |
NA |
NA |
| IV:2 |
F/22 |
22 |
1.0/1.0 |
1.0/1.0 |
30/32 |
22/22 |
28/26 |
0.4/0.4 |
0.7/0.5 |
M/M |
OHT |
JOAG |
Yes |
| IV:3 |
F/19 |
|
1.0/1.0 |
1.0/1.0 |
|
22/22 |
NA |
0.5/0.5 |
NA |
|
OHT |
OHT |
Yes |
| IV:4 |
M/21 |
|
1.0/1.0 |
1.0/1.0 |
|
18/18 |
16/16 |
0.4/0.4 |
0.4/0.4 |
|
Normal |
Normal |
No |
| IV:5 |
F/23 |
|
1.2/1.2 |
1.2/1.2 |
|
25/25 |
25/25 |
0.3/0.3 |
0.3/0.3 |
|
OHT |
OHT |
Yes |
| IV:6 |
F/22 |
22 |
1.0/1.0 |
1.0/1.0 |
34/32 |
26/26 |
34/32 |
0.5/0.5 |
0.7/0.7 |
M/M |
OHT |
JOAG |
Yes |
| IV:7 |
F/17 |
|
1.0/1.0 |
1.0/1.0 |
|
14/14 |
18/18 |
0.2/0.2 |
0.2/0.2 |
|
Normal |
Normal |
No |
| IV:9 |
M/22 |
|
1.0/1.0 |
1.0/1.0 |
|
24/20 |
26/20 |
0.5/0.5 |
05/0.5 |
|
OHT |
OHT |
Yes |
| IV:10 |
F/16 |
|
1.0/1.0 |
1.0/1.0 |
|
15/15 |
16/17 |
0.2/0.2 |
0.2/0.2 |
|
Normal |
Normal |
No |
| IV:12 | M/16 | 1.2/1.2 | 1.2/1.2 | 19/20 | 17/17 | 0.2/0.2 | 0.2/0.2 | Normal | Carrier | Yes |
Abbreviations: M, male; F, female; BCVA, best-correct visual aucuity; OD, right eye; OS, left eye; NLP, no light peception; IOP, introocular pressure; C/D, cup disc ratio; NMT, no medical therapy; NA, unavailable; S, surgery; M, medical therapy; OHT, ocular hypertension, JOAG, juvenile-onset angle glaucoma.