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