Table 1. The mutational spectrum of probands harbouring mtDNA and OPA1 mutations.
Mutation | Below 14 years | Below 10 years | Below 6 years | 7–14 years | F / S | F / M | Onset age |
---|---|---|---|---|---|---|---|
Total | 119/304 | 63/201 | 29/94 | 90/210 | 61/243 | 69/235 | 8.7 ± 3.4 |
mtDNA | 89/304 | 38/201 | 6/94 | 83/210 | 30/59 | 10/79 | 10.6 ± 2.8 |
OPA1 | 26/304 | 24/201 | 21/94 | 5/210 | 8/18 | 4/22 | 5.8 ± 3.4 |
OPA3 | 4/304 | 1/201 | 2/94 | 2/210 | 2/2 | 0/4 | 6 ± 3.16 |
F / S: Familial / Sporadic; F / M: Female / Male