Table 1 of Lee, Mol Vis 2011; 17:3583-3590.
Individual number |
Gender |
Age of onset (months) |
Affected eye(s) |
IOP at diagnosis (OD;OS) |
Family history |
CYP1B1 mutation |
MYOC mutation |
---|---|---|---|---|---|---|---|
1 | M | 10 | U | 22 | - | - | - |
2 | M | 3 | B | 22/16 | - | - | - |
3 | M | 76 | B | 30/24 | Sibling | - | - |
4 | F | 21 | B | 34/17 | - | - | - |
5 | F | <1 | B | 30/32 | - | - | - |
6 | M | 29 | U | 34 | - | - | L228S (heterozygote) |
7 | F | <1 | U | 23 | - | - | - |
8 | F | <1 | U | 22.4 | - | - | - |
9 | F | 117 | B | 11/44 | - | - | - |
10 | M | 5 | U | 33/15 | - | - | - |
11 | F | 3 | U | 28 | - | - | - |
12 | F | 1 | U | 18.5 | - | - | - |
13 | F | 35 | U | 30 | - | - | - |
14 | F | 10 | B | 52/52 | - | - | - |
15 | F | 5 | U | 28 | - | - | - |
16 | M | 6 | U | 22.5 | - | - | |
17 | M | 4 | B | 37/35 | - | A330F (heterozygote) | - |
18 | M | 2 | B | 26/32 | - | - | - |
19 | M | 10 | U | 18.5 | - | - | - |
20 | F | 1 | B | 21/30 | - | - | - |