Table 2 of Yaylacioglu Tuncay, Mol Vis 2016; 22:1267-1279.
Patient no | Age/Sex | Diagnosis | Family history | Consanguinity | Age at diagnosis | BCVA (OD/OS) | Treatment | Variation |
---|---|---|---|---|---|---|---|---|
1 | 28/F | LCD1 | + | - | 18 | 0.8/0.7 | - | R124C/- |
2 | 23/F | LCD1 | - | - | 18 | 0.2/0.4 | - | R124C/- |
3 | 45/M | LCD1 | + | - | 24 | 0.05/0.4 | OD ALK | R124C/- |
4 | 40/M | LCD1 | - | - | 20 | 0.4/0.5 | OD-OS PTK | R124C/- |
5 | 36/F | GCD1 | + | + | 15 | 0.05/0.05 | OD PPK | R555W/- |
6 | 35/M | GCD1 | + | + | 20 | 0.05/0.3 | - | R555W/- |
7 | 18/F | GCD1 | + | - | 10 | 0.9/0.8 | - | R555W/- |
8 | 53/M | GCD1 | + | - | 30 | 0.4/0.4 | - | R555W/- |
9 | 27/M | GCD1 | + | - | 20 | 0.05/0.05 | OD-OS ALK | R555W/R555W |
10 | 42/F | GCD1 | + | + | 18 | 0.3/0.4 | - | R555W/- |
11 | 26/M | GCD1 | - | - | 18 | 0.5/0.3 | OS PTK | R555W/- |
12 | 54/F | GCD1 | + | - | 30 | 0.6/0.5 | - | R555W/- |
13 | 40/M | GCD1 | + | - | 20 | 0.1/0.2 | OD ALK | R555W/- |
14 | 43/M | GCD1 | + | + | 15 | 0.05/0.05 | OD-OS PPK | R555W/- |
15 | 35/F | GCD1 | - | - | 20 | 0.4/0.3 | - | R555W/- |
16 | 33/F | GCD1 | + | - | 18 | 0.8/0.7 | - | R555W/-. |