Table 1 of
Sundaramurthy, Mol Vis 2021; 27:718-724. Table 1 of
Sundaramurthy, Mol Vis 2021; 27:718-724.
Table 1. LHON primary mutation positive familial cases along with clinical characteristics.
| Fam ID | Proband ID / Relation | Primary mutation | Plasmy status | Age | Sex | Age of Onset | MRI | Visual acuity | Fundus | |
|---|---|---|---|---|---|---|---|---|---|---|
| OD | OS | |||||||||
| Fam-1 | LH-4 | m.11778G>A | Homo | 25 | M | 16 | Hyperintense signals in optic nerve | 0.47 | 0.47 | Temporal disc pallor |
| Fam-1 | LH-5 / Maternal uncle of LH-4 | m.11778G>A | Homo | 37 | M | 18 | Thinned out optic nerve | 2.07 | 0.47 | Temporal disc pallor |
| Fam-3 | LH-7 | m.11778G>A | Homo | 33 | M | 21 | Hyperintense signals in optic nerve | 2 | HM | Disc pallor |
| Fam-3 | LH-8 / sibling of LH-7 | m.11778G>A | Homo | 31 | M | 23 | Hyperintense signals in optic nerve | CF | CF | Disc pallor |
| Fam-8 | LH-44 mother of LH-23 | m.11778G>A | Homo | 45 | F | 16 | Not performed | 1 | 1 | Disc pallor |
| Fam-8 | LH-23 | m.11778G>A | Homo | 28 | F | 18 | Not performed | 1.77 | 1.47 | Disc pallor |
| Fam-19 | LH-66 / sibling of LH-64 | m.11778G>A | Homo | 28 | M | 13 | Not performed | 1.30 | 1 | Disc pallor |
| Fam-19 | LH-64 | m.11778G>A | Homo | 37 | M | 37 | Not performed | 1.47 | 1 | Temporal disc pallor |
| Fam-20 | LH-77 / maternal uncle of LH-74 | m.14484T>C | Homo | 36 | M | 26 | Not performed | Not performed | Not performed | Not performed |
| Fam-20 | LH-74 | m.14484T>C | Homo | 19 | M | 15 | Hyperintense signals in optic nerve | 1.30 | 1.77 | Temporal disc pallor |
| Fam-64 | LH-215 / sibling of LH-214 | m.11778G>A | Homo | 17 | M | 17 | Normal | CF | CF | Temporal pallor |
| Fam-64 | LH-214 | m.11778G>A | Homo | 20 | F | 18 | Thinned out left optic nerve with increased T2 signal | 3/60 | 3/60 | Temporal pallor |