Table 1. Study participants’ demographic and clinical features.
Chronic LHON | Acute LHON | ‘Dynamic’ LHON | LHON Carriers | DOA patients | Healthy controls | ||
---|---|---|---|---|---|---|---|
Number of participants (number of eyes analyzed) | 20 (38) | 6 (12) | 2 (4) | 21 (42) | 19 (38) | 22 (44) | |
Gender (number of males) | 16 | 5 | 2 | 10 | 13 | 14 | |
Mutation carried, number of patients (number of eyes analyzed) | |||||||
11778/ND4 | 13 (24) | 6 (12) | 2 (4) | 15 (30) | — | — | |
3460/ND1 | 5 (10) | 0 (0) | 0 (0) | 4 (8) | — | — | |
14484/ND6 | 2 (4) | 0 (0) | 0 (0) | 2 (4) | — | — | |
OPA1 H-mutation | — | — | — | — | 9 (18) | — | |
OPA1 M-mutation | — | — | — | — | 10 (20) | — | |
Number of smokers | 2 | 3 | 0 | 2 | 3 | ||
Age, years | 36.0 ± 10.0 | 31.5 ± 12.1 | 36.0 ± 4.2 | 36.7 ± 13.3 | 37.5 ± 12.9 | 39.7 ± 10.1 | |
Disease duration, years | 11.8 ± 13.8 | 0.1 ± 0.1 | 0.7 ± 0.2 | — | — | — | |
Visual acuity, decimals | 0.11 ± 0.15 | 0.29 ± 0.43 | 0.04 ± 0.02 | 1.00 ± 0.00 | 0.36 ± 0.23 | 1.00 ± 0.00 |
LHON: Leber Hereditary Optic Neuropathy; DOA: Dominant Optic Atrophy; H-mutation: OPA1 haploinsufficiency mutation; M-mutation: OPA1 missense mutation.
Data are showed as mean ± SD.