Table 5.
Vision loss in children of asymptomatic women with at least one affected brother in representative LHON families
| Sibship analysis within pedigree | Males with vision loss/total male offspringa[penetrance] | Females with vision loss/total female offspringa[penetrance] | Total individuals with vision loss/total offspringa[penetrance] |
|---|---|---|---|
| TAS01 | 48/289 [16.6%] | 13/278 [4.7%] | 61/575 [10.8%] |
| TAS01 (complete) | 112/1,011 [11.1%] | 27/1,052 [2.6%] | 139/2,063 [6.7%] |
| TAS02 | 45/129 [34.9%] | 6/149 [4.0%] | 51/278 [18.3%] |
| TAS02 (complete) | 74/394 [18.8%] | 9/389 [2.3%] | 83/783 [10.6%] |
| NSW01 | 2/9 [22.2%] | 1/8 [12.5%] | 3/17 [17.6%] |
| NSW01 (complete) | 8/53 [15.1%] | 3/62 [4.8%] | 11/115 [9.6%] |
| NSW02 | 3/15 [20.0%] | 0/17 [N/A] | 3/32 [9.4%] |
| NSW02 (complete) | 8/76 [10.5%] | 3/83 [3.6%] | 11/159 [6.9%] |
| NSW04 | 5/33 [15.1%] | 6/43 [14.0%] | 11/76 [14.5%] |
| NSW04 (complete) | 21/76 [27.6%] | 7/77 [9.1%] | 28/153 [18.3%] |
| WAU01 | 5/20 [25.0%] | 1/29 [3.4%] | 6/49 [12.2%] |
| WAU01 (complete) | 16/58 [27.6%] | 5/60 [8.3%%] | 21/118 [17.8%] |
Penetrance for each complete pedigree (from Table 1) is included in italics to facilitate direct comparison.
a
Only asymptomatic carriers over 25 years of age are included.