Table 1.
The Demography and the Genetic Screening Results of this Study
| Patients (%) | Total (Families/Sporadic) | Male (Families/Sporadic) | Female (Families/Sporadic) | Ratio (Male to Female) |
|---|---|---|---|---|
| Total screened (100%) | 418 (254/164) | 263 (154/109) | 155 (100/55) | 1.7:1 |
| LHON mutation (31.6%, 132/418) | 132 (84/48) | 90 (55/35) | 42 (29/13) | 2.1:1 |
| OPA1 mutation (8.6%, 36/418) | 36 (30/6) | 22 (18/4) | 14 (12/2) | 1.6:1 |
| OPA3 mutation (1.0%, 4/418) | 4 (3/1) | 3 (3/0) | 1 (0/1) | 3.0:1 |
| TMEM126A mutation (0.5%, 2/418) | 2 (2/0) | 1 (1/0) | 1 (1/0) | 1.0:1 |
| Total detected (40.2%, 168/418) | 168 (113/55) | 111 (72/39) | 57 (41/16) | 2.0:1 |