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Table 1 Characteristics of study population

From: Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

 

Total population

Carriers <50 Years

Carriers ≥50 Years

 

Affected

Unaffected

Affected

Unaffected

Affected

Unaffected

Mutation type

      

m.11778G > A (%)

167 (66.0)

190 (68.6)

118 (66.3)

78 (66.7)

16 (80)

60 (67.4)

m.3460G > A (%)

53 (20.9)

49 (17.7)

31 (17.4)

24 (20.5)

4 (20)

12 (13.5)

m.14484 T > C (%)

33 (13.0)

38 (13.7)

29 (16.3)

15 (12.7)

0 (0)

17 (19.1)

Total

253

277

178

117

20

89

Sex N, (%)

      

Male

194 (76.7)

92 (33.2)

134 (74.9)

32 (27.4)

15 (75.0)

28 (31.5)

Female

59 (23.3)

185 (66.8)

45 (25.1)

85 (72.6)

5 (25.0)

61 (68.5)

Male/Female ratio

3.3

0.5

3.0

0.37

3.0

0.46

Mean disease duration

15.9 (16.16)

 

10.71 (10.47)

 

10.5 (19.12)

 

VF-14 score (SD)

25.1 (20.8)

97.3 (7.1)

25.14 (21.18)

98.01 (5.22)

18.06 (15.27)

96.45 (8.91)