Table 1.
| Case 1 (IV.2) | Case 2 (IV.3) | Case 3 (IV.6) | |
|---|---|---|---|
| Age | 15 | 14 | 5 |
| Onset | Early childhood | Early childhood | Early childhood |
| Presentation | Nystagmus | Nystagmus Exotropia |
Nystagmus Esotropia |
| BCVA | OD: 20/100 OS: 20/200 |
OD: 20/200 OS: 20/200 |
OD: 20/200 OS: 20/400 |
| Refraction | OD: −3.50 +2.75 ×095 OS: −4.50 +2.25 ×075 |
OD: plano +2.00 ×100 OS: −0.50 +2.75 ×070 |
OD: +1.50 +1.00 ×105 OS: +1.25 +1.00 ×080 |
| Color vision | Dyschromatopsia | Dyschromatopsia | n/a |
| Optic disc | Normal | Normal | Small disc |
| Macula | Foveal hypopigmentation | Foveal hyperpigmentation | Normal |
| Peripheral retina | Normal | Normal | Normal |
| ERG | Cone extinguished Rod normal |
Cone extinguished Rod normal |
n/a |
| Pupillometry | Cone: partially affected Rod: normal Melanopsin: normal |
Cone: partially affected Rod: normal Melanopsin: normal |
n/a |