Table 1 of Schroeder, Mol Vis 2018; 24:1-16.

Table 1. Demographic data, ABCA4 mutations, and ffERG results.

Subject/
Age/Group
Age at first ffERG/
Gender Original diagnosis from the records ABCA4
mutations ETDRS VA score
(RE, LE) Rod
ffERG
(RE, LE)
Ampl
(µV) Combined ffERG
(RE, LE)
Ampl
(µV) Cone
ffERG
(RE, LE)
Amp IT
(µV; ms) mERG sum
(RE, LE)
Ampl (µV)
1/41/1/29/
male STGD c.4773+3A>G (hom) 86, 90 279,
268 430,
425 59,
61 31.0,
31.5 27,
23
2/71/1/NRP/
female STGD c.2564 G>A
c.3113 C>T
c.4506 C>T 13, 77 164,
159 283,
284 35,
41 38.0,
37.0 6,
9
3/27/1/20/
female STGD c.1622 T>C
c.3113 C>T
c.5882 G>A 44, 43 294,
299 488,
522 80,
81 27.0,
26.5 20.7,
23.7
4/48/1/NRP/
male STGD c.5882 G>A
c.5917del 74, 64 165,
144 356,
334 57,
55 28.5,
28.5 20.7,
5/45/1/21/
female STGD c.3113 C>T
c.768 G>T 43, 44 195,
154 367,
315 59,
54 28.0,
27.5 12.4,
9.6
6/34/1/NR/
female STGD c.768 G>T
c.1610 G>A N, N 216,
230 320,
451 89,
96 27.5,
28.6 N
7/38/1/30/
female STGD c.2915 C>A
c.5537 T>C 39, 41 388,
306 657,
524 95,
83 30.0,
30.0 28.4,
21.7
8/18/1/NRP
female STGD c.868 C>T
c.317 A>T N, N 252,
238 348,
260 73,
49 27.0,
27.5 25.0,
24.8
9/32/1/29
female STGD c.3386 G>T (hom) 68, 68 285,
224 433,
378 68,
64 31.0,
30.5 18.0,
24.7
10/22/1/NRP
female STGD c.5882 G>A
c.5917del 39, 40 277,
230 371,
309 75,
60 27.5,
27.5 24.4
11/35/2/22
male STGD c.2588 G>C
c.4253+4 C>T N, N 269,
223 470,
369 87,
74 30.5,
30.5 11.3,
17.7
12/10/2/NRP
male STGD c.768 G>T (hom) 49. 54 119,
N 199,
N 29,
N 30.5,
N 8.2,
N
13/23/2/17
male CRD c.1622 T>C
c.3113 C>T
c.1804 C>T 30, 25 48,
38 136,
N 9,
11 46.0,
50.0 2.2,
N
14/39/2/NRP/
female CRD c.1933 G>T
c.4249_4 251del N, N 43,
65 N,
N 21,
32 40.0,
39.5 5,7
N
15/29/2/19
female CRD c.5882 G>A
c.4773+1 G>A 24, 21 17,
17 23,
18 2,
7 42.0,
39.6 1.3
1.7
16/40/2/32
male CRD c.286 A>G
c.1798 G>T 15, 9 108,
116 215,
191 44,
61 35.0,
33.0 7.3,
10.3
17/41/2/17/
male STGD c.768 G>T
c.6112 C>T 6, 25 83,
103 153,
175 19,
24 36.0,
34.0 6.0,
9.3
18/40/2/20/
female STGD c.2588 G>C
c.4253+4 C>T N, N 132,
81 241,
144 37,
24 35.0,
39.5 9.7,
9.3
19/27/2/NRP/male CRD c.634 C>T
c.5882 G>A N, N 81,
63 158,
123 19,
26 34.5,
34.0 8.6
20/28/2/18/
female CRD c.1654 G>A
c.4363 T>C 35, 35 38,
34 52,
57 4,
5 45.0,
42.5 1.0,
0.7
21/27/2/16/
female STGD c.768 G>T (hom) 13, 28 62,
42 71,
91 4,
4 42.0,
42.5 1.0,
1.3
22/16/2/7/
male CRD c.319 C>T
c.5461–10 T>C N, N 69,
61 104,
85 7,
6 45.4,
45.5 N,
1.7
23/20/2/13/
female CRD c.768 G>T
c.2894 A>G 20, 22 168,
144 225,
234 11,
13 42.1,
39.5 2.3,
2.3
24/16/2/NRP/
female STGD c.1622 T>C
c.3113 C>T
c.1804 C>T 11, 17 178,
170 452,
290 32,
35 36.0,
35.0 3.8,
N
25/31/2/26/
female STGD c.4773+1 G>A
c.53 G>A 17, 22 101,
131 153,
181 16,
48 39.5,
39.0 2.0,
4.3
26/25/2/12/
male STGD c.2894 A>G (hom) 19, 24 143,
134 260,
280 31,
41 29.5,
28.5 8.7,
13.7
27/22/2/18/
female STGD c.2894 A>G
c.4667+ T>C 17, 36 162,
122 270,
214 59,
79 33.5,
33.0 3.8,
4.5
28/24/2/19/
female CRD c.768 G>T
c.2894 A>G 14, 23 145,
162 290,
252 23
27 38.0,
39.5 N,
N
29/62/2/NRP/
male STGD c.1007 C>G
c.5714+ 5G>A N, N 33,
57 N,
N 9,
14 42.0,
42.0 N,
N
30/23/3/17/
male CRD c. 5917 del (hom) 17, 24 60,
75 101,
103 12,
13 40.0,
41.0 N,
1.3
31/50/3/NRP/
female CRD c.768 G>T
c.4253+ 4C>T 4, 3 72,
70 104,
109 6,
7 41.2,
43.2 3.3,
1.7
32/40/3/36/
male CRD c.3259 G>A (hom) 0, 4 30,
4 40,
29 4,
2 43.5,
42.0 Not measurable
33/34/3/32/
male CRD c.6229 C>T (hom) 6, 16 39,
36 76,
67 9,
13 43.0,
43.5 5.7,
3.3
34/70/3/63/
female CRD c.768 G>T
c.2894 A>G N, N 10,
0 N,
N 6,
7 41.0,
41.0 N,
N

BVA=best corrected visual acuity, ETDRS=early treatment diabetic retinopathy study, RE=right eye, LE=left eye, Ampl=amplitude, µV=micro volt, IT=implicit time, ms=milliseconds, STGD=Stargardt disease, hom=homozygote, NRP=not registered previously, n=not performed, CRD=cone-rod dystrophy

Schroeder, Mol Vis 2018; 24:1-16. http://www.molvis.org/molvis/v24/1

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