Table 2 of
Kjellström, Mol Vis 2015; 21:767-782. Table 2 of
Kjellström, Mol Vis 2015; 21:767-782.
Table 2. Demographics and examination results for the subjects.
| Subject/Gender | Age | Mutation | BCVA (RE, LE) | Goldmann visual field | ffERG | mERG Ampl | mERG IT | Fundus photos | AF |
|---|---|---|---|---|---|---|---|---|---|
| 1/F | 60 | c.768 G>T | 0.8, 0.4 | RE small scotoma 03e inf temp between 10 and 20° a, LE normal | flicker Ampl RE ↓ | RE ↓ LE not tested | RE ↑ LE not tested | N | not tested |
| 2/M | 61 | c.768 G>T | 1.0, 1.0 | N | N | RE ↓ | RE ↑ | N | not tested |
| 3/M | 45 | c.768 G>T | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | N | N |
| 4/F | 59 | c.5461–10T>C | 1.0, 0.9 | RE+LE 30e, 20e, 10e constricted mostly 30e sup and more in LE | N | RE ↓ LE ↓ | RE ↑ LE ↑ | N | N |
| 5/M | 61 | c.319 C>T | 1.0, 1.0 | N | flicker IT RE ↑ flicker IT LE ↑ | RE ↓ LE ↓ | RE ↑ LE ↑ | LE; pigmentary changes in the macula | LE; hyper-fluorescence in the macula |
| 6/F | 41 | c.5917delG | 0.7, 1.0 | N | N | N | N | N | not tested |
| 7/F | 57 | c.2894 A>G | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | OA; pigmentary changes in the macula and along the vascular arcades | LE; hyper- and hypo fluorescence around the vascular arcades |
| 8/M | 61 | c.768 G>T | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | OA; pigmentary changes in the macula and deep yellow spots in the mid-periphery | OA; multiple foci of high and low AF signals |
| 9/F | 47 | c.1622 T>C/ c.3113 C>T | 1.0, 0.9 | N | flicker IT LE ↑ | RE ↓ LE ↓ | RE ↑ LE ↑ | N | N |
| 10/M | 51 | c.1804 C>T | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | OA; pigmentary changes in the macula | N |
| 11/F | 49 | c.4469 G>A | 1.0, 1.0 | N | N | N | N | N | N |
| 12/M | 51 | c.6079 C>T | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | OA; pigmentary changes in the macula | N |
| 13/F | 47 | c.2894 A>G | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | N | N |
| 14/M | 53 | c.2894 A>G | 0.8, 1.0 | N | N | N | RE ↑ LE ↑ | RE; pigmentary changes in the macula | RE; high AF signals in the macula and the temp midperiphery |
| 15/F | 41 | c.2894 A>G | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | LE; pigmentary changes sup to the macula | LE; hyper-fluorescence sup to the macula |
| 16/M | 57 | c.5714+5G>A | 1.0, 1.0 | N | N | N | RE ↑ LE ↑ | OA; very subtle pigmentary changes in the macula | N |
| 17/F | 47 | c.2894 A>G | 0.9, 0.9 | N | N | N | RE ↑ LE ↑ | N | N |
| 18/M | 48 | c.4297 G>A/ c.4667+2T>C | 1.0, 1.0 | N | N | RE ↓ LE ↓ | RE ↑ LE ↑ | RE; subtle pigmentary changes in the macula | RE; hyper-fluorescence in the macula |