Table 1 Clinical findings in 12 children with ocular features of albinism and no obvious skin pigmentation abnormalities.
From: Clinical and genetic variability in children with partial albinism
proband ID | age at genetic testing (years) | sex | iris transillumination | foveal hypoplasia | fundal hypopigmentation | age at VEP testing (years) | VEP crossed asymmetry (pattern & flash VEP score) | relevant family history |
|---|---|---|---|---|---|---|---|---|
1 | <1 | M | no | yes | yes | <1 | possible (P-1, F1) | none reported |
2 | 14 | F | no | yes | yes | <1; 2; 14 | probable (P-1, F2); no (P-1, F0); yes (P3, F3) | none reported |
3 | 1 | M | yes | yes | yes | not tested | not tested | none reported |
4 | 3 | M | yes | yes | yes | <1 | yes (P3, F3) | mother with iris transillumination & foveal hypoplasia |
5 | 6 | M | yes | yes | yes | 5 | yes (P3, F3) | identical twin affected |
6 | 1 | M | yes | yes | yes | <1 | yes (P3, F3) | none reported |
7 | 8 | M | yes | yes | yes | <1 | probable (P2, F1) | none reported |
8 | 11 | F | yes | yes | yes | not tested | not tested | brother affected |
9 | 1 | F | yes | yes | yes | 1 | no (P0, F0) | none reported |
10 | 7 | F | no | yes | yes | 3; 6 | probable (P2, F0); probable (P0, F2) | none reported |
11 | 7 | M | no | yes | no | 1; 4 | possible (P1, F0); no (P0, F0) | half-brother of paternal grandmother with nystagmus |
12 | 5 | M | no | no | no | 2 | yes (P1, F3) | parental consanguinity |
