Table 2 of
Romero, Mol Vis 2014; 20:334-340. Table 2 of
Romero, Mol Vis 2014; 20:334-340.
Table 2. Phenotypic features of twenty-six patients from the fifteen families in Chile affected by Leber Hereditary Optic Neuropathy.
| Mutation | Patient | Family | Haplogroup | Gender | Age at exam (years) | Age of onset (years) | Best corrected acuity (right/left eye, fractional) |
|---|---|---|---|---|---|---|---|
| m.11778G>A | 1 | 2 | A2 | M | 58 | 53 | CF/CF |
| 2 | 2 | A2 | M | 54 | 44 | CF/CF | |
| 3 | 2 | A2 | M | 56 | 45 | CF/CF | |
| 4 | 6 | B2i2 | F | 6 | 3 | CF/0.05 | |
| 7 | 12 | B2i2 | M | 43 | 8 | CF/CF | |
| 9 | 3 | C1b | M | 27 | 24 | CF/CF | |
| 10 | 3 | C1b | M | 35 | 8 | 0.3/0.3 | |
| 11 | 3 | C1b | M | 46 | 17 | 0.3/0.3 | |
| 12 | 4 | C1b | M | 22 | 19 | CF/CF | |
| 13 | 4 | C1b | F | 56 | 5 | 0.1/0.1 | |
| 14 | 5 | C1b | M | 22 | 20 | 0.05/CF | |
| 15 | 5 | C1b | F | 38 | 36 | CF/CF | |
| 16 | 9 | C1b | M | 19 | 17 | CF/CF | |
| 17 | 9 | C1b | M | 24 | 22 | HM/HM | |
| 18 | 11 | C1b | M | 23 | 20 | 0.05/0.05 | |
| 19 | 11 | C1b | M | 8 | 6 | CF/CF | |
| 20 | 15 | C1b | M | 16 | 14 | CF/0.05 | |
| 24 | 7 | L1b | M | 66 | 29 | HM/HM | |
| 25 | 7 | L1b | F | 64 | 42 | LP/HM | |
| 26 | 14 | L1b | M | 44 | 24 | CF/CF | |
| m.14484T>C | 8 | 10 | B2i2 | M | 36 | 34 | 0.05/0.05 |
| 21 | 13 | D1g | M | 29 | 27 | 0.05/0.15 | |
| 22 | 1 | J2b | M | 30 | 19 | 0.1/0.05 | |
| 23 | 1 | J2b | M | 37 | 17 | 0.05/0.1 | |
| m.3460G>A | 5 | 8 | B2i2 | F | 38 | 14 | 0.05/0.05 |
| 6 | 8 | B2i2 | M | 12 | 10 | 0.05/0.05 |