TABLE 1.
Ocular phenotypes of individuals with albinism.
| Case ID | A1 (years) | A2(years) | Iris translucency | Macular transparency | Nystagmus | Foveal hypoplasia (OCT) | Retinography | ||
| C1 | 5 | 7 | II | II | Yes | NA | NA | ||
| C2 | 1.5 | 3 | III | I | Yes | NA | NA | ||
| C3 | 2 | 4 | II | I | Yes | NA | NA | ||
| C4 | 2 | 4 | III | I | Yes | NA | NA | ||
| C5 | 12 | 14 | II | II | Yes | Yes | Hypopigmented | ||
| C6 | 14 | 16 | II | I | Yes | Yes | Hypopigmented | ||
| C7 | 16 | 18 | II | I | Yes | Yes | Hypopigmented | ||
| C8 | 18 | 20 | II | II | Yes | Yes | Hypopigmented | ||
| Case ID | Refraction error |
Strabismus |
VA1 |
VA2 |
|||||
| E1 | E2 | RE | LE | RE | LE | ||||
| C1 | HA | No | Yes | FF | FF | 20/400 | 20/400 | ||
| C2 | HA | No | No | FF | FF | FF | FF | ||
| C3 | H | No | No | FF | FF | 20/400 | 20/200 | ||
| C4 | HA | Yes | Yes | FF | FF | 20/100 | 20/100 | ||
| C5 | HA | No | No | 20/400 | 20/400 | 20/400 | 20/400 | ||
| C6 | MA | Yes | Yes | 20/300 | 20/300 | 20/200 | 20/200 | ||
| C7 | HA | No | No | 20/200 | 20/200 | 20/200 | 20/200 | ||
| C8 | HA* | No | No | 20/200 | 20/200 | 20/300 | 20/300 | ||
A1, age in the first ophthalmology evaluation; A2, age in the second ophthalmology evaluation; NA, not available; E1, first ophthalmology evaluation; E2, second ophthalmology evaluation; HA, hypermetropic astigmatism; H, hypermetripia; MA, myopic astigmatism; VA1, first visual acuity evaluation; VA2, second visual acuity evaluation; FF, fix and follow; RE, right eye; LE, left eye. *Refractive error shows in second evaluation. Iris translucency varies between I and III, the last being the most severe. For macular transparency, grade I is the most severe and grade III is the less transparent.