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. 2021 Oct 19;108(11):2159–2170. doi: 10.1016/j.ajhg.2021.09.015

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%]
a

Only asymptomatic carriers over 25 years of age are included.