Table 6 of Kjellström, Mol Vis 2022; 28:300-316.
Subject | Mutation/mutations | Isolated rod response b-wave Ampl (µV) | Combined rod-cone response a-wave Ampl (µV) | Combined rod-cone response a-wave Ampl (µV) | 30 Hz flicker cone response Ampl (µV) | 30 Hz flicker cone response IT (ms) |
---|---|---|---|---|---|---|
1 | c.768 G>T | 181 | 138 | 263 | 44 | 30.0 |
2 | c.768 G>T | 120 | 105 | 197 | 36 | 28.5 |
3 | c.768 G>T | 227 | 192 | 350 | 41 | 27.0 |
4 | c.5461–10T>C +c.5603A>(cis) | 278 | 183 | 406 | 78 | 31.5 |
5 | c.319 C>T c.5603A>T (cis) | 153 | 147 | 248 | 38 | 35.0 |
6 | c.5917delG | 216 | 148 | 279 | 52 | 29.0 |
7 | c.2894 A>G | 215 | 175 | 311 | 34 | 30.5 |
11 | c.4469 G>A c.5603A>T (cis) | 225 | 171 | 383 | 48 | 27.5 |
12 | c.6079 C>T | 206 | 129 | 347 | 45 | 31.0 |
13 | c.2894 A>G | 231 | 239 | 416 | 61 | 28.5 |
14 | c.2894 A>G | 220 | 213 | 346 | 70 | 29.5 |
Mean of controls ±2SD Limits of normality | 302±120 182 | 228±94 134 | 443±162 281 | 63±38 25 | 30.0±3.0 33.0 |