Table 1 of Fang, Mol
Vis 2008; 14:1974-1982.
Table 1. Summary of clinical findings in affected males and carriers
Family |
ID# patients |
Gender |
Age (yrs) |
First symptom |
VA (corrected) |
Iris hypopigmentation |
Fundus a, b, c |
Nys |
---|---|---|---|---|---|---|---|---|
1 | IV16 | M | 8 | nystagmus | 0.2/0.2 | normal | no,no, yes | yes |
IV5 | M | 27 | nystagmus | 0.25/0.3 | mild | no,no,yes | yes | |
IV7 | M | 23 | nystagmus | 0.3/0.2 | mild | no,no,yes | yes | |
IV2 | M | 24 | nystagmus | 0.2/0.25 | normal | no,no,yes | yes | |
II4 | M | 64 | nystagmus | 0.4/0.2 | normal | no,yes,yes | yes | |
II2 | M | 77 | nystagmus | 0.12/0.06 | normal | no,yes,yes | yes | |
IV11 | M | 11 | nystagmus | 0.3/0.3 | normal | no,no,yes | yes | |
IV12 | M | 9 | nystagmus | 0.2/0.12 | normal | no,no,yes | yes | |
2 | III3 | M | 4 | poor VA | 0.1/0.1 | mild | ND | yes |
III1 | M | 6 | poor VA | 0.2/0.2 | obvious | no,no,yes | yes | |
3 | IV1 | M | 4 | poor VA | ND | mild | no,no,yes | yes |
4 | IV1 | M | 7 | nystagmus | 0.2/0.2 | mild | no,yes,yes | yes |
5 | II1 | M | 12 | nystagmus | 0.2/0.2 | normal | no,no,yes | yes |
II2 | M | 7 | nystagmus | 0.2/0.3 | normal | no,no,yes | yes | |
6 | IV5 | M | 4 | nystagmus | ND | mild | no,yes,yes | yes |
Carriers | ||||||||
1 | III13 | F | 38 | NA | 0.8/1.0 | normal | no,no,no | NA |
III7 | F | 41 | NA | 0.8/1.0 | normal | no,no,no | NA | |
III8 | F | 36 | NA | 1.0/1.0 | normal | no,no,no | NA | |
III2 | F | 50 | NA | 1.0/1.0 | normal | no,no,no | NA | |
3 | III6 | F | 31 | NA | 1.2/1.2 | mild | no,yes,no | NA |
4 | III3 | F | 33 | NA | 1.0/1.0 | mild | no,yes,no | NA |
6 | III6 | F | 31 | NA | 1.0/1.0 | normal | no,yes,no | NA |