Subject ID | Sex | Age, y | Age at onset, y | Visual condition at the first examination | Current visual condition | Idebenone treatment | Recovery | Neuropsychological assessment | Neurologicalcomplication | m.3460A > G (% het) | m.961delTinsCn | Copy number (mtDNA/nDNA) | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RE | LE | RE | LE | Full scale scores | IQ profile | ||||||||||||
IQV | IQP | IQT | |||||||||||||||
I-2 | F | 71 | 70 | 20/20 | 20/20 | 20/20 | 20/20 | – | – | – | – | – | – | – | HET (30%) | n = 4 | 206 ± 15 |
II-1 | F | 47 | 39 | 20/20 | 20/20 | 20/20 | 20/20 | – | – | Mild intellectual disability (50–69) | 59 | 68 | 59 | N | HOM | n = 5 | 713 ± 144 |
II-2 | F | 46 | 38 | 20/20 | 20/20 | 20/20 | 20/20 | – | – | Borderline intellectual functioning (70–84) | 74 | 78 | 73 | N | HET (40%) | n = 5 | 636 ± 74 |
II-3 | M | 44 | 43 | 20/20 | 20/20 | 20/20 | 20/20 | – | – | – | – | – | – | N | HOM | n = 6 | 213 ± 9 |
III-1 | M | 25 | 17 | 20/200 | 20/200 | 20/800 | Light perception | Y | N | Mild intellectual disability (50–69) | 53 | – | 53 | Epilepsy; Migraine | HOM | n = 9 | 240 ± 86 |
III-2 | M | 21 | 20 | 20/20 | 20/20 | 20/200 | 20/200 | – | – | Borderline intellectual functioning (70–84) | 66 | 82 | 72 | Epilepsy Migraine | HOM | n = 7 | 604 ± 149 |
III-3 | F | 18 | 12 | 20/25 | 20/25 | 20/25 | 20/25 | – | – | Borderline intellectual functioning (70–84) | 84 | 86 | 84 | N | HOM | n = 8 | 667 ± 72 |
III-4 | M | 18 | 10 | 20/20 | 20/20 | 20/20 | 20/20 | – | – | Borderline intellectual functioning (70–84) | 67 | 78 | 76 | N | HET (40%) | n = 7 | 739 ± 184 |