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 |
F=female, M=male, BVA=best corrected Snellen visual acuity, RE=right eye, LE=left eye, Ampl=amplitude, IT=implicit time, AF=autofluorescence, inf=inferior, temp=temporal, ↓ reduced, ↑prolonged, n=normal, sup=superior, OA=both eyes a The patient has myelinated nerve fibers corresponding to the scotoma.