Table 1 Characteristics of the study population of LHON mutation carriers at baseline visit
From: Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study
Total LHON cohort | LHON patients | Asymptomatic LHON carriers | |
|---|---|---|---|
Total, n | 244 | 147 | 97 |
Median age at baseline, y (range) | 34 (5–82) | 34 (5–82) | 35 (6–70) |
Median age at disease onset, y (range) | NA | 22 (3–80) | NA |
Median disease duration, y (range) | NA | 3 (2wk-54y) | NA |
Gender, n (%) | |||
Male | 138 (56.6) | 108 (73.5) | 30 (30.9) |
Female | 106 (43.4) | 39 (26.5) | 67 (69.1) |
Male/female ratio | 1:0.8 | 1:0.4 | 1:2.2 |
Mutation type, n (%) | |||
m.11778G > A | 170 (69.7) | 97 (66.0) | 73 (75.3) |
m.3460G > A | 30 (12.3) | 21 (14.3) | 9 (9.3) |
m.14484T > C | 30 (12.3) | 19 (12.9) | 11 (11.3) |
Others, rare LHON mutations | 14 (5.7) | 10 (6.8) | 10 (4.1) |
B12, pg/mL, mean ± SD (range) | 440 ± 235 (150–2000) | 446 ± 209 (150–2000) | 432 ± 271 (150–2000) |
HoloTC, pmol/L, mean ± SD (range) | 73 ± 30 (13–132) | 74 ± 31 (13–132) | 71 ± 27 (15–128) |
MMA, nmol/L, mean ± SD (range) | 186 ± 103 (58–990) | 186 ± 30 (72–735) | 184 ± 117 (58–990) |
tHCy, µmol/L, mean ± SD (range) | 13 ± 6 (4–51) | 14 ± 7 (4–51) | 12 ± 4 (4–26) |