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 |
F=female, M=male, BVA=best corrected Snellen visual acuity, RE=right eye, LE=left eye, Ampl=amplitude, IT=implicit time, ↓ reduced, ↑ prolonged, n=normal, CRD=cone rod dystrophy, STGD=Stargardts disease