TABLE 3.
Phenotype and genetic summary of a Brazilian pediatric albino cohort.
| Case ID | A1 (years) | Sex | Iris and macular translucency | Nystagmus | Retinography | Foveal hypoplasia | Visual acuity | Iris color | Dermatological findings |
Genotype |
|
| Gene | Variants | ||||||||||
| C1 | 5 | M | + | Yes | NA | NA | Low | Dark blue | Light skin pigmentation, and dark blond hair | NId | NId |
| C2 | 1.5 | F | + | Yes | NA | NA | Low | Blue | Skin hypopigmentation and blond hair | TYR | c.1217C > T (het) c.1185-2A > G (het) |
| C3 | 2 | F | + | Yes | NA | NA | Low | Blue | Skin hypopigmentation and white-yellowish hair | SLC45A2 | c.264delC (het) c.606G > C (het) |
| C4 | 2 | M | + | Yes | NA | NA | Low | Light Blue | Milky skin and white hair | TYR | c.140G > A (het) WT |
| C5 | 12 | M | + | Yes | Hypopigmented | + | Low | Light Blue | Milky skin and white hair | TYR | c.1456delG (hom) |
| C6 | 14 | F | + | Yes | Hypopigmented | + | Low | Blue | Skin hypopigmentation and blond hair | TYR | c.389_391delAGA (het) c.1037-7T > A (het) |
| C7 | 16 | M | + | Yes | Hypopigmented | + | Low | Blue | Skin hypopigmentation and blond hair | TYR | c.389_391delAGA (het) c.1037-7T > A (het) |
| C8 | 18 | M | + | Yes | Hypopigmented | + | Low | Blue | Skin hypopigmentation and blond hair | NId | NId |
A1, age at first ophthalmology evaluation; NA, not available; NId, not identified; (+) represent the presence of clinical phenotype and (−) represents the absence of clinical phenotype; Het, heterozygous; Hom, homozygous.