Table 2.
Individuals with vision loss attributable to LHON
LHON mutation | Males with vision loss/ total carriersa[penetrance] | Females with vision loss/total carriersa[penetrance] | Total individuals with vision loss/total carriersa[penetrance] |
---|---|---|---|
m.11778G>A | 309/1,902 [16.2%] | 91/2,084 [4.3%] | 400/3,986 [10.0%] |
m.14484T>C | 104/564 [18.4%] | 22/651 [3.4%] | 126/1,215 [10.4%] |
m.3460G>A | 16/89 [18.0%] | 5/87 [5.7%] | 21/176 [11.9%] |
m.4171C>A | 1/5 [20.0%] | 1/7 [14.3%] | 2/12 [16.7%] |
m.14482C>G | 5/22 [22.7] | 2/32 [6.2%] | 7/54 [13.0%] |
m.11778G>A/m.14484T>C | 1/16 [6.2%] | 2/25 [8.0%] | 3/41 [7.3%] |
m.14484T>C/m.4160T>C | 26/35 [74.3%] | 35/49 [71.4%] | 61/84 [72.6%] |
Total | 462/2,633 [17.5%] | 158/2,935 [5.4%] | 620/5,568 [11.1%] |
Only asymptomatic carriers over 25 years of age are included.