Table 1. Clinical findings.
| Patients | Age (years) at onset | Age (years) at visual examination | VA RE | VA LE | Fundus |
|---|---|---|---|---|---|
| II.1 |
16 |
16 |
< 20/400 |
< 20/400 |
pale optic discs |
| II.3 |
primary school |
22 |
20/60 |
20/60 |
temporal pallor of discs |
| II.4 |
28 |
20/15 |
20/15 |
normal |
|
| II.7 |
primary school |
14 |
20/30 |
20/25 |
temporal pallor of discs |
| |
Visual fields (Goldmann perimetry) |
ERG |
VEP |
OCT |
Ishihara plates |
| II.1 |
absolute central scotoma both eyes |
normal |
not done |
thinning of all RNFL bundles |
none detected |
| II.3 |
very small relative central scotoma |
not done |
not done |
temporal thinning of RNFL |
20 errors, deuteranopic type |
| II.4 |
normal |
not done |
not done |
not done |
no error |
| II.7 | short arcuate defects near the blind spot | not done | not done | not done | none detected (but the first) |