Table 1 Demographic characteristics and type of mutation of the participants in the present study
LHON patients (n = 34) | Asymptomatic LHON mutation carriers (n = 37) | Total (n = 71) | |
|---|---|---|---|
Gender, n (%) | |||
M | 28 (82%) | 7 (19%) | 35 (49%) |
F | 6 (18%) * | 30 (81%)* | 36 (51%) |
M:F ratio | 4.7:1 | 1:4.3 | N/A |
Age at study baseline (y) | |||
Mean (± SD) | 38 (± 14) | 42 (± 13) | 40 (± 14) |
Median (range) | 36 (18–75) | 43 (18–70) | 39 (18–75) |
Age at clinical onset (y) | |||
Mean (± SD) | 31 (± 15) | N/A | N/A |
Median (range) | 27 (9–72) | N/A | N/A |
Mutation, n (%) | |||
m.11778G > A | 23 (68%) | 28 (76%) | 51 (72%) |
m.3460G > A | 6 (18%) | 4 (11%) | 10 (14%) |
m.14484 T > C | 4 (12%) | 3 (8%) | 7 (10%) |
Others# | 1 (2%) | 2 (5%) | 3 (4%) |