Table 3 of Wang, Mol Vis 2010; 16:1146-1153.
Visual acuity | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
ID |
Sex |
Age (yrs) |
OD |
OS |
Mutation |
Effect |
Differently colored eyes |
Fundus hypopigmentation |
Dystopia canthorum |
Deafness |
Family history |
A-II:1 | F | 1 | NA | NA | c.567_586+17del | p.Asp189_Gln505delinsGluGlyGlyAlaLeuAlaGly | OS | OS | Yes | NA | No |
B-II:1 | M | 0.6 | NA | NA | c.456_459dupTTCC | p.Ile154PhefsX162 | OS | OS | Yes | NA | No |
C-II:1 | M | 7 | 1.00 | 0.90 | c.795_800delCTGGTT | p.Trp266_Phe267del | OS | OS | Yes | No | No |
D-IV:1 | M | 6 | 0.90 | 1.00 | c.799T>A | p.Phe267Ile | OD | OD | Yes | No | Yes |
E-II:1 | F | 23 | 1.50 | 1.50 | c.667C>T | p.Arg223X | OS | OS | Yes | No | No |