Table 4.
Vision loss in offspring of affected women with LHON
Affected mother mutation | Males with vision loss/total male offspringa[penetrance] | Females with vision loss/total female offspringa[penetrance] | Total individuals with vision loss/total offspringa[penetrance] |
---|---|---|---|
m.11778G>A | 30/87 [34.5%] | 10/91 [11%] | 40/178 [22%] |
m.14484T>C | 3/19 [15.8%] | 5/21 [23.8%] | 8/40 [20%] |
m.3460G>A | 0/1 [N/A] | 1/3 [33.3%] | 1/4 [25%] |
m.14484T>C/m.4160T>C | 15/24 [62.5%] | 27/32 [84.4%] | 42/56 [75%] |
m.14482C>G | 1/1 [100%] | 1/2 [50%] | 2/3 [66.6%] |
Total | 49/132 [37.1%] | 44/149 [29.5%] | 93/281 [33.1%] |
N/A, not applicable.
Only asymptomatic carriers over 25 years of age are included.