Table 1 of
Kjellström, Mol Vis 2015; 21:767-782. Table 1 of
Kjellström, Mol Vis 2015; 21:767-782.
Table 1. Demographics and results of examinations for the teenagers/young adults.
| Patient/ Gender | The child of subject | Age | Age at onset | Mutations | BVA (RE, LE) | Goldmann Visual field | ffERG | mERG Ampl | mERG IT | Phenotype |
|---|---|---|---|---|---|---|---|---|---|---|
| A/F | 1 & 2 | 23 | 7 | c.768 G>T c.768 G>T | 0.04, 0.05 | Large central and nasal paracentral scotomas for V4e. Constricted II4e isopters. | Flicker Ampl ↓ Flicker IT ↑ | ↓ | ↑ | CRD |
| B/M | 3 | 13 | 10 | c.768 G>T c.768 G>T | 0.1, 0.1 | Large central scotomas for V4e RE, and I4e LE. | N | ↓ | N | STGD |
| C/M | 4 & 5 | 17 | 7 | c.5461–10T>C c.319 C>T | 0.02, 0.05 | Large central scotomas for V4e. | Flicker Ampl ↓ Flicker IT ↑ | ↓ | ↑ | CRD |
| D/F | 6 | 22 | 20 | c5917 delG c5882 G>A | 0.16, 0.13 | Small central scotomas for 04e. | N | ↓ | N | STGD |
| E/F | 7 & 8 | 20 | 11 | c.2894 A>G c.768 G>T | 0.06, 0.06 | Large nasal paracentral scotomas for II4e. | Flicker Ampl ↓ Flicker IT ↑ | not tested | not tested | CRD |
| F/F | 9 &10 | 16 | 6 | c.1622 T>C c.1804 C>T | 0.06, 0.06 | Large central and nasal paracentral scotomas for I4e. | N | ↓ | ↑ | STGD |
| G/F | 11 & 12 | 20 | 12 | c.4469 G>A c.6079 C>T | 0.13, 0.16 | Central scotomas for 03e. | N | ↓ | N | STGD |
| H/M | 13 & 14 | 23 | 10 | c.2894 A>G c.2894 A>G | 0.1, 0.1 | Large central scotomas for 03e. | N | ↓ | N | STGD |
| I/M | 15 & 16 | 13 | 6 | c.2894 A>G c.5714+5G>A | 0.25, 0.25 | Small central scotoma for 03e. | N | ↓ | N | STGD |
| J/F | 17 & 18 | 22 | 13 | c.2894 A>G c.4667+2T>C | 0.04, 0.08 | RE scotoma within 10° for V4e. LE large scotoma for I4e and small central scotoma within 5° for V4e. | Flicker IT ↑ | ↓ | N | STGD |