Supplementary appendix
Supplement to: Staufner C, Haack TB, Köpke MG, et al., Recurrent acute liver failure due to
NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Supplementary figure
Figure S1, Ophthalmological findings in patient 1
Patient 1 showed asymptomatic bilateral reduction of retinal cone function on
electroretinography (multifocal and flash ERG, rod function being normal), discrete optic
nerve atrophy, discrete depression of visual field sensitivity, and high myopia; all other
ophthalmological parameters including visual acuity and color vision were normal.
Patient 12 has bilateral optic atrophy with an pathological ERG indicating retinal involvement
particularly regarding cone responses. The other patients had completely unremarkable ocular
exams (in patient 6, no ERG could be obtained).
Study results of patient 1, A: Photopic flash ERG (right eye, left eye): effacement of a and b
waves indicates reduced cone function. B: Multifocal ERG (right eye, left eye): effacement of
cone responses of most of the posterior pole. Sparing of the fovea explains the still good
visual acuity and the normal results in visual color testing. C: Fundoscopy (right eye, left eye)
of the posterior pole depicting discrete optic nerve atrophy on both eyes. D: Spectral domain
optical coherence tomography (sd-OCT) analysis of the retinal nerve fiber layer (RNLF, right
eye, left eye) depicting discrete optic nerve atrophy on both eyes.
Supplementary table
Table S1, Anthropometrical data
ID
Pat 1
(FI)
Pat 2
(FII)
Pat 3
(FIII)
Pat 4
(FIV)
Pat 5
(FV)
Pat 6
(FVI)
Pat
7(FVII)
Pat 8
(VII)
Pat 9
(FVIII)
Pat 10
(FIX)
Pat 11
(FX)
Pat 12
(F XI)
Pat 13
(F XII)
Pat 14
(F XIII)
Sex
F
F
F
F
M
M
F
F
M
F
F
M
M
F
Age (years)
Birth
(gestational age in
weeks)
Birth length (SDS)
18
22
18
37
14
3
9
11
8
4
18
1.8
8
16
32
40
38
n.a.
35
36
39
37
40
36
35
36
39
40
-0.48
-0.77
-2.77
n.a.
0.44
n.a.
-0.95
-1.88
-0.22
n.a.
-1.14
-2.73
0.04
-0.32
Birth weight (SDS)
-0.56
-1.48
-2.23
n.a.
0.29
n.a.
-1.18
-1.21
0.40
-1.47
-1.18
-1.87
-1.0
-0.39
Height (cm)
153.4
156.4
145.4
155.5
167.8
87.4
137
133.5
127.6
97.1
155.0
79.0
123.0
160.8
Height (SDS)
-2.67
-2.08
-4.24
-2.25
-0.22
-2.91
-0.60
-2.71
-0.63
-2.62
-2.35
-2.48
-2.07
-1.15
Weight (SDS)
-0.34
-0.43
1.49
0.56
-0.12
-2.50
-0.26
-1.22
-0.36
-1.29
-0.57
-2.23
-2.81
-2.00
Head circumference
-0.59
-1.09
-1.81
0.35
-1.38
n.a.
-2.12
-0.97
-1.44
-3.88
n.a.
-1.75
-2.56
n.a.
(SDS)
Inner canthal
2.5
2.6
2.6
2.6
2.4
n.a.
2·1
2·8
2.7
2.8
n.a.
2.4
n.a.
n.a.
distance (cm)
Inner canthal
< -2
< -2
< -2
< -2
< -2
n.a.
< -2
-1
-1
0
n.a.
-1
n.a.
n.a.
distance (SDS)
Outer canthal
7.2
7.6
7.3
7.6
7.6
n.a.
6.9
7.5
8
n.a.
n.a.
6.8
n.a.
n.a.
distance (cm)
Outer canthal
< 3rd
< 3rd
< 3rd
< 3rd
< 3rd
n.a.
< 3rd
3rd
50
n.a.
n.a.
25
n.a.
n.a.
distance (percentile)
Measurement of inner and outer canthal distance was based on photographs in patients 7, 8, 9 and 12. Pat, patient; F, female; M, male; SDS, standard deviation score; n.a., not
available.