Article
|
Type of study
|
Pediatric LHON (n°.)
|
Female cases (n°.)
|
Age at onset or mean (y)
|
Type of onset
|
Neuro-ophthalmological data
|
Recovery
|
1.[16]
|
Case series
|
1
|
1
|
8
|
No data available
|
Decline in visual acuity
|
No data available
|
2.[17]
|
Retrospective study (19)
|
6
|
2
|
I: 15
II: 10
|
Acute onset
|
I: visual acuity at nadir (RE:LE) 0,005 log MAR in both (moderate visual impairment)
II: visual acuity at nadir (RE:LE): 0,1 log MAR in both (mild visual impairment)
|
No
Partial
|
3.[18]
|
Perspective study (53)
|
7
|
3
|
I: 7
II: 11
III: 14
|
I: slowly progressive
II: subclinical
III: acute
|
Fundus oculi: unknown peripapillary microangiopathy
|
I: partial
II: partial
III: No
|
4.[10]
|
Case report (LHON plus)
|
3
|
1
|
11
|
Acute bilateral onset
|
Visual acuity: RE 0,1 LE 0,08 logMAR(mild: moderate)
Goldmann Perimetry: Central scotomas
Fundus oculi: Atrophy of optic disc
Normal PEV
|
No
|
5.[19]
|
Retrospective study (9)
|
8
|
3
|
10
|
Acute onset
|
I: Visual acuity (RE: LE):0,1: 0,3 logMAR (mild: mild)
Goldmann perimetry: paracentral scotoma in both eyes.
Fundus oculi: pale optic discs temporally
VEP: delayed P100 latecies for large check sizes and no recordable responses for small check sizes
II: Visual acuity: (RE: LE): 0,1:0,1 logMAR (mild: mild)
Goldmann perimetry: l central scotoma in OD.
Fundus oculi: hyperemia and turgor of the optic papilla.
III: Visual acuity: (RE: LE):0,2: 0,1 (mild: mild)
Goldmann perimetry: central scotoma in both eyes.
Fundus oculi: hyperemic disc and peripapillary telangiectatic microangiopathy
|
I: no
II: No with 18 months Idebenone therapy
III: no with Idebenone therapy (discontinued)
|
6.[20]
|
Retrospective study
(19)
|
6
|
2
|
I: 3
II: 17
|
No data available
|
I: Visual acuity(RE:LE): 0,4:0,1 logMAR
II: Visual acuity(RE:LE): 0,5: 1 logMAR
|
No data available
|
7. [21]
|
Case report (3)
|
3
|
1
|
15
|
Acute onset
|
Visual acuity (RE:LE): 0,2:0,1 (mild)
Fundus oculi: pale optic disc
Goldmann perimetry: central scotomas in both eyes with small fenestrations
|
No with therapy
|
8. [22]
|
Case report (2)
|
1
|
1
|
9
|
Acute onset
|
Fundus oculi: bilateral optic disc atrophy in both eyes
Goldmann perimetry: central scotomas in both eyes
|
Spontaneous partial recovery
|
9. [23]
|
Retrospective study (32)
|
12
|
2
|
I: 15
II: 16
|
Acute onset
|
I: Visual acuity(RE:LE): CF/CF (profound visual impairment)
Color vision: 0/12 bilaterally
Fundus oculi: bilateral optic disc hyperemia in both eyes, peripapillary microangiopathy
Visual fields test: central scotomas in both eyes
II : Visual acuity (RE:LE): 0,1 logMAR bilaterally (mild impairment)
Color vision: 5/12 bilaterally
Fundus oculi: bilateral optic disc hyperemia in both eyes peripapillary microangiopathy
Visual fields test: central scotomas in both eyes
|
No data available
|
10. [24]
|
Retrospective study:
(3)
|
1
|
1
|
17
|
Slowly progressive
|
Visual acuity slowly decreasing in 20 years until CF:CF
Fundus oculi: bilateral optic disc atrophy in both eyes
Visual fields test: central scotomas in both eyes
|
No
|
11. [7]
|
Case report
|
1
|
1
|
6
|
No data available
|
Decline in central visual acuity
|
No data available
|
12. [25]
|
Case report
|
2
|
1
|
12
|
Acute onset
|
Visual acuity: RE finger counts, LE: +1,3 logMAR
Goldmann perimetry: bilateral central scotomas.
Fundus oculi: hyperemia and turgor of the optic papilla.
|
Partial visual recovery with steroids.
|
13. [26]
|
Retrospective study
|
4
|
3
|
2: 10
1: 13
|
Acute onset
|
I: Visual acuity (RE:LE): 0,02/0,02 logMAR, Fundus oculi: optic disc pale
II: Visual acuity (RE:LE): 0,1 logMAR /, CF*, Fundus oculi: optic disc pale
III: Visual acuity (RE:LE): 0,05:0,05 logMAR, Fundus oculi: optic disc pale
|
No data available
|
14. [4]
|
Retrospective study: (180)
|
14
|
1
1
|
10
No data available
|
Acute bilateral LHON
Slowly progressive LHON
|
BCVA* (RE*: LE*): 0,3 +/- 0,3 logMAR (mild-mild)
Fundus oculi: Diffuse optic disc atrophy without microangiopathy
OCT: diffuse RNFL* thinning
BCVA (RE/LE): 0,6 +/- 0,1 logMAR (mild:mild)
Fundus oculi: Atrophy of temporal sector of optic disc, variable microangiopathy
OCT: RNFL* reduction in temporal quadrant
|
No
Partial visual recovery
|
15. [9]
|
Case report (LHON plus)
|
1
|
1
|
17
|
Acute onset
|
Goldmann perimetry: bilateral central scotomas.
Fundus oculi: bilateral optic atrophy, but not peripapillary telangiectasia and retinal degeneration.
|
No data available
|
16. [27]
|
Case report
|
2
|
2
|
I: 3
II: 4
|
Acute onset
|
I: visual acuity (RE:LE): 0,5:0,15 logMAr (normal: mild)
Fundus oculi: slightly pale optic disc
VEP: reduced amplitude
II: : visual acuity (RE:LE): 0,15: 0,12 logMAR (mild:mild)
|
Mild improvement: visual acuity (RE:LE) 0,7:0,2 logMAR 14 years later
Mild improvement: visual acuity (RE:LE) 0,2:0,7 logMAR 14 years later
|
17. [28]
|
Retrospective study: (13)
|
10
|
2
|
I: 13
II: 14
|
Acute onset
|
I: visual acuity RE:LE : 0,02/0,01 logMAR (profound visual impairment)
II: visual acuity RE:LE 0,05/0,04 logMAR (moderate: severe)
|
No data available
|
18. [29]
|
Retrospective study:
(5)
|
3
|
2
|
I: 7
II: 14
|
Acute onset
|
I: visual acuity (RE: LE): 0,12/0,4 logMAR (mild visual impairment)
Goldmann perimetry: large centrocecal scotoma in both eyes
II: 0,05/0,1 moderate visual impairment
Fundus oculi: vascular tortuosity of central retinal vessels, microangiopathy in both eyes, no reflex on fovea on both eyes
Visual field test: large centrocecal scotoma in both eyes
VEP: decreased amplitude and delayed latencies in both eyes
|
No data available
|
19. [30]
|
Retrospective study (15)
|
4
|
2
|
I: 14
II: 15
|
Acute onset
|
Visual acuity (RE:LE): 0,1:0,08 logMAR (mild: moderate)
Fundus oculi: vascular tortuosity of central retinal vessels, microangiopathy in both eyes
Visual field test: large centrocecal scotoma in both eyes
VEP: decreased amplitude and delayed latencies in both eyes, bilateral hearing loss
Visual acuity (RE:LE): 0,06:0,06 (moderate: moderate)
|
No data available
|
20. [31]
|
Retrospective study;
(25)
|
5
|
1
|
10
|
Acute onset
|
Visual acuity: 0,12/0,2 logMAR (mild: mild)
|
No data available
|
21. [32]
|
Case report
|
1
|
1
|
12
|
Acute onset but atypical presentation (convergent strabismus, horizontal nystagmus in condition of progressive ataxia, progressive ophthalmoplegia, referactary epilepsy)
|
Visual acuity: 0,05:0,05 (moderate: moderate)
Field visual test: centrocecal scotomas in both eyes
Fundus oculi: bilateral optical disc atrophy
|
No data available
|
22. [33]
|
Case control study:
|
1
|
1
|
12
|
Acute bilateral onset
|
Visual acuity: +1,00 logmar bilaterally (20/200=0,1)
Fundus oculi: Diffuse Optical Atrophy
Goldmann Perimetry: Centrocecal scotomas
Modest horizontal nystagmus
|
No
|
23. [34]
|
Retrospective study: (18)
|
15
|
9
|
I: 6
II, III: 9
IV, V: 10
VI: 11
VII: 12
VIII: 15
IX: 17
|
No data available
|
Visual acuity (RE:LE):
I: 0,8/0,8 logMAR
II: 0,08/0,05 logMAR III: 0,6/0,6 logMAR, paracentral scotomas
IV: 0,04/0,04 logMAR central scotomas V: 0,8/0,8 logMAR
VI: 0,8/0,3 logMAR paracentral scotomas
VII: 0,8/0,8 logMAR
VIII: 1/0,6 logMAR paracentral scotomas
IX: 0,6/0,6 logMAR
|
I, III, V, VII, VIII, IX : partial spontaneous visual recovery
II, IV, VI: No recovery
|
24. [35]
|
Retrospective study
|
3
|
1
|
14
|
Acute onset
|
Visual acuity (RE:LE): 0,1:0,1 logMAR (mild: mild)
Goldmann perimetry: centrocecal scotoma
Fundus oculi: optic disc pale in temporal sector
|
No data available
|
25. [36]
|
Retrospective study: (14)
|
9
|
1
|
15
|
Acute onset: first in RE and then in LE
|
Visual acuity (RE:LE): 0,1:0,1 (mild: mild)
|
No data available
|
26. [1]
|
Retrospective study:
(9)
|
6
|
2
|
I: 9
II: 15
|
Acute onset
|
Visual acuity (RE: LE):
I: 0,3/0,12 (mild: mild)
II: 0,2/0,10 (mild:mild)
|
No data available
|
27.[37]
|
Retrospective study: (61)
|
15
|
2
|
Both 14
|
No data available
|
No data available
|
No data available
|
28 [38]
|
Retrospective study: (29)
|
14
|
9
|
I, II: 7
III: 8
IV, V, VI: 9
VII: 10
VIII: 12
IX: 16
|
No data available
|
Visual acuity (RE: LE):
I: 0,01/0,01 logMAR (profound) II: 0,12/0,6 logMAR (mild: mormal)
III: 0,01/0,01 logMAR (profound)
IV: 0,08/0,05 logMAR (moderate) V: 0,1/0,6 logMAR (mild: normal)
VI: 0,4/0,12 logMAR (normal:mild)
VII: 0,25/0,5 logMAR (mild: normal)
VIII: 0,3/0,25 logMAR (mild: mild)
IX: 0,08/0,09 logMAR (moderate: moderate)
|
No data available
|
29. [39]
|
Retrospective study
|
25
|
10
|
I, II, III, IV, V: 12
VI, VII, VIII, IX: 17
X: 14
|
No data available
|
No data available
|
No data available
|
30. [40]
|
Case report LHON-MELAS overlap syndrome
|
1
|
1
|
11
|
Acute onset
|
Visual acuity: CF in both eyes (profound: profound)
Fundus: RE: dilatation and tortuosity of all branches of central retinal vein, intraretinal hemorrhage, hyperemic disc LE: pinkish optic disc, mild tortuosity of small and medium arterioles
Fluorescein Angiography: RE: delayed venous filling LE: normal
|
Partial recovery with Q10 coenzyme
|
31. [41]
|
Retrospective study:
(9)
|
4
|
2
|
I: 8
II. 15
|
Acute onset
|
Visual acuity (RE: LE):
I: 0,1/0,1 (mild: mild)
II: 0,05/0,05 (moderate: moderate)
|
No data available
|
32. [42]
|
Case report:
(5)
|
4
|
2
|
I: 7
II: 12
|
Acute onset
|
Visual acuity (RE:LE):
I: 0,02:0,3 logMAR (severe: mild)
II: Not available
|
Partial spontaneous recovery
|
33. [43]
|
Retrospective study: (34)
|
15
|
3
|
I: 14
II: 11
III: 5
|
No data available
|
No data available
|
No data available
|
34. [44]
|
Observational Perspective Study:
(26)
|
11
|
3
|
I: 6
II: 5
III: 14
|
No data available
|
I: CF/CF (profound)
II: 0,1/0,1 logMAR (mild)
III: 0,05/0,05 logMAR (moderate)
|
No data available
|
35. [45]
|
Retrospective study:
(34)
|
3
|
3
|
I: 6
II: 4
III: 14
|
Acute onset
|
Best Visual Acuity (BCVA) (RE:LE):
I: RE 0,125 LE 0,25 logMAR (mild: normal)
II: RE 0,6 LE 0,6 logMAR (normal)
III: RE 0,8 LE 0,6 logMAR (normal)
|
I: no s recovery
II, III: partial spontaneous recovery
|
36. [46]
|
Retrospective study:
(9)
|
5
|
1
|
15
|
Acute onset
|
Visual acuity: CF both (profound)
|
Partial visual recovery
|
37. [47]
|
Retrospective study:
(16)
|
5
|
2
|
I: 15
II: 17
|
Acute onset
|
Visual acuity (RE:LE): I: 0,03: 0,05 logMAR (severe: severe)
II: 0,06: 0,1 logMAR (moderate: mild)
|
No data available
|
38. [48]
|
Case report: LHON-MELAS overlap
|
1
|
1
|
12
|
Acute onset: loss of vision in both eyes. One month later, vertigo, anhedonia, hearing loss, migraine attack
|
Visual acuity: RE: 0,2 LE: 0,03 logMAR (mild:severe)
Fundus oculi: both optic nerves pale
Fundus autofluorescence: bilateral hyperfluorescent optic nerve deposits
Standard automated perimeter: severe bilateral visual loss
OCT: RNFL thickening (3,54 mm)
VEP: reduced amplitudes with prolonged P100 wave latencies bilaterally.
|
No data available
|
39. [49]
|
Perspective study: (9)
|
8
|
2
|
I F: 8
II F: 9
|
Acute onset
|
I: Visual Field Index (VFI) * 0%
II: VFI* 3%
|
Partial recovery with gene therapy
|
40. [50]
|
Clinical trial (16)
|
12
|
3
|
I: 8
II: 9
III: 7
|
No data available
|
I: BCVA RE: 0,9, LE: 1,2 logMAR
II: BCVA RE:0,2, LE:0,2 logMAR
III: BCVA LE:2 (normal) logMAR
|
No improvement with gene therapy at 12 months
|
41. [51]
|
Retrospective study: (105)
|
36
|
20
|
I: 7
II: 9
III: 11
IV, V, VI, VII, VIII, IX, X, XI: 15
XII, XIII: 13
XIV, XV, XVI: 16
XVII, XVIII, XIX, XX: 17
|
No data available
|
No data available
|
No data available
|
42. [52]
|
Retrospective study:
(101)
|
45
|
13
|
I: 5
II: 6
III: 10
IV: 11
V, VI: 13
VII: 14
VIII IX: 15
X: 16
XI XII XIII: 17
|
No data available
|
Visual acuity (RE: LE) :
I: hand movement profound visual impairment
II: 0,1:0,1 logMAR moderate impairment
III: 0,02:0,03 logMAR severe impairment
IV: 0,08: 0,06 logMAR moderate impairment
V: 0,15: 0,15 logMARmild impairment VI: 0,2:0,15 logMAR mild impairment
VII: 0,1:0,1 logMAR mild impairment
VIII: 0,03:0,05 logMARSevere impairment IX: CF (profound impairment)
X: 0,02: 0,25 logMAR severe impairment
XI: 0,1:0,2 logMAR mild impairment XII: 0,06: 0,1 logMAR moderate impairment
XIII: 0,1:0,1 logMAR mild impairment
|
No data available
|
43. [6]
|
Perspective study:
(119)
|
89
|
10
|
Median age: 10,6
Median age: 9,8
|
Acute onset: 54/89
Slowly progressive onset: 35/89
|
Visual acuity: (RE:LE) 0,06 ± 0,46 logMAR
Fundus oculi: bilateral optic nerve edema or hypereaemia with/without telangiectatic vessels;
temporal optic pallor with vascular tortuosity in both eyes; temporal optic pallor with microvascular tortuosity in the right eye and optic nerve hyperemia with telangiectatic vessels in left eye.
OCT: greater RNFL thickness in inferior and superior quadrants
Visual acuity 0,12 ± 0,03 logMAR
Fundus oculi: temporal optic atrophy without changes in the vessels in both eyes; diffused atrophy of the optic disk in both eyes.
OCT: reduced RNFL thickness in temporal quadrant
VEP: from a serious conduction defect to the absence of a waveform.
|
No data available
No data available
|
44. [14]
|
Case report:
|
2
|
2
|
Median age: 7,5
|
Acute onset
|
Visual acuity (RE:LE):
I: 0, 25/0,13, logMAR
II: 0,5/0,8 logMAR
Fundus oculi: pallor of optic papilla
|
I no visual recovery
II: partial visual recovery (Visual acuity RE:LE : 0, 6/0,8)
|
45. [53]
|
Perspective observational study: (103)
|
No specific datas about childhood LHON
|
23
|
Range: 24+/-10
|
Acute onset: bilateral visual impairment
|
BCVA: 0,1+/-0,03 logMAR in both eyes (mild)
|
No data available
|
46. [5]
|
Retrospective study:
(27)
|
27
|
5
2
|
Median age: 8,2
Median age: 7,5
|
Acute onset (17)
Slowly progressive onset (4)
|
BCVA (RE:LE):
2:Light perception (profound)
RE: 0,03 LE: 0,03 logMAR(severe-severe)
RE: 0,79 LE: 0,79 logMAR (normal-normal)
RE: 0,91 LE: 1,00 logMAR (normal-normal)
BCVA (RE:LE):
RE: 0,17 LE: 0,02 logMAR (mild: severe)
RE: 0,17 LE: 0,25 logMAR (mild: mild)
|
no visual recovery
|
47. [54]
|
Retrospective study:
(44 pediatric cases of optic neuropathy)
|
12
|
2
|
No data available (certainly<14 )
|
No data available
|
Visual acuity at 15 y: 0,8 +/- 0,4 in both eyes (Normal)
|
No data available
|
48. [55]
|
Perspective study
(9)
|
8
|
2
|
I F: 8
II F: 9
|
Acute onset
|
I: VFI 0%
II: VFI 3%
|
Partial recovery with gene therapy
|
49. [56]
|
Retrospective study: (352)
|
5
|
3
|
I: 10
II: 17
III: 15
|
No data available
|
I: moderate visual impairment
II: mild visual impairment
II: mild visual impairment
|
No data available
|
50. [57]
|
Case series (10)
|
2
|
1
|
16
|
Acute onset followed by Visual allucinations without cognitive impairment
|
Visual acuity: light perception and hand movements in both eyes (profound)
|
No data available
|
51. [58]
|
Retrospective study on gene therapy efficacy: (53)
|
No specific datas about childhood LHON
|
5
|
16 +/-5
|
No data available
|
Improving with gene therapy: baseline BCVA 1,94 logMAR +/-0,31 (normal)
Not improving with gene therapy: Baseline BCVA 1,76 +/- 0,42
(normal)
|
2F improvement with gene therapy
3F no improvement with gene therapy
|
52. [59]
|
Case report
|
1
|
1
|
11
|
Acute onset: poor vision LE
|
Visual acuity at onset: LE 0,02 logMAR
Automated perimetry: central scotoma in LE
Normal OCT
VEP: reduced P50 amplitude and normal N95 in the left eye
|
Stable at 5 year with Idebenone
|
53.[8]
|
Retrospective study:
(64)
|
17
|
6
|
I: 6
II:6
III: 4
I: 7
II: 4
III: 13
|
Subacute (3F)
Slowly progressive (3F)
|
I: Visual acuity: BCVA RE: 0,2 LE: 0,4 logMAR (mild: normal)
II: Visual acuity: BCVA RE: 0,125 LE: 0,2 logMAR (mild: mild)
II: Visual acuity: BCVA RE: 1 LE: 0,4 logMAR (normal: normal)
I: Visual acuity: BCVA RE: 0,125 LE: 0,6 logMAR (mild: normal)
II: Visual acuity: BCVA RE: 0,125 LE: 0,16 logMAR (mild:mild)
II: Visual acuity: BCVA RE: 0,8 LE: 0,62 logMAR (normal: normal)
|
I: no recovery
II: no
III: spontaneous recovery
I: no
II: spontaneous recovery
III: no
|
54. [60]
|
Retrospective study: (16)
|
13
|
1
|
16
|
Acute onset
|
BCVA (RE:LE): 0,1 logMAR / finger counts (mild: profound)
|
Partial recovery: 0,1/0,06 logMAR
|
55. [61]
|
Retrospective study: (1520)
|
123
|
34
|
<5 Y: 1/1
5-9Y: 1/3
|
No data available
|
No data available
|
No data available
|