Table 1. Clinical and demographical characteristics of affected individuals.
| Family code | Patient | Gender | Age of onset (y) | Current age (y) |
Visual acuity |
Fundus appearance | |
|---|---|---|---|---|---|---|---|
| OD | OS | ||||||
| W09–0036 |
II:6 |
M |
21 |
46 |
20/40 |
20/40 |
AA, BS |
| II:4 |
F |
25 |
50 |
20/40 |
20/40 |
AA, BS |
|
| II:3 |
M |
25 |
51 |
20/40 |
20/40 |
AA, BS |
|
| W09–0037 |
II:2 |
F |
14 |
32 |
HM |
HM |
AA, BS |
| II:3 |
F |
14 |
29 |
HM |
HM |
AA, BS |
|
| W09–0038 |
II:3 |
M |
17 |
30 |
HM |
CF |
AA, BS |
| II:2 |
F |
18 |
32 |
HM |
HM |
AA, BS |
|
| W09–0039 |
III:1 |
F |
20 |
46 |
LP+ |
LP+ |
AA, BS, POD |
| W09–0040 |
III:3 |
M |
15 |
45 |
LP- |
LP+ |
AA, BS, POD |
| IV:1 |
F |
8 |
10 |
HM |
HM |
n.d. |
|
| II:6 |
M |
14 |
71 |
HM |
LP- |
n.d. (cataract) |
|
| III:5 |
M |
13 |
59 |
HM |
LP- |
AA, BS, POD |
|
| W09–0041 |
IV:4 |
M |
14 |
44 |
20/200 |
20/200 |
BS |
| IV:5 |
F |
13 |
41 |
20/100 |
20/70 |
BS |
|
| IV:1 |
F |
15 |
49 |
20/200 |
20/200 |
BS |
|
| IV:7 |
M |
15 |
35 |
20/40 |
20/40 |
BS |
|
| IV:2 |
M |
13 |
64 |
HM |
HM |
AA, BS, POD |
|
| W09–0042 |
IV:2 |
F |
5 |
64 |
HM |
HM |
AA, BS, POD |
| IV:3 |
M |
6 |
62 |
HM |
HM |
AA, BS, POD |
|
| W09–0044 |
II:1 |
F |
12 |
59 |
LP+ |
LP+ |
AA, BS, POD |
| W09–0045 |
II:2 |
M |
11 |
55 |
LP+ |
LP+ |
AA, BS, POD |
| II:9 |
F |
11 |
37 |
20/240 |
20/240 |
BS |
|
| II:10 |
F |
12 |
35 |
20/240 |
20/240 |
BS |
|
| II:4 |
M |
13 |
48 |
HM |
HM |
BS |
|
| II:7 |
M |
12 |
39 |
HM |
HM |
BS |
|
| W09–0046 |
IV:7 |
M |
14 |
46 |
20/400 |
20/400 |
BS |
| IV:8 |
M |
15 |
40 |
20/400 |
20/400 |
BS |
|
| IV:5 |
M |
14 |
47 |
HM |
HM |
BS |
|
| W09–0047 |
II:1 |
F |
15 |
39 |
HM |
HM |
BS |
| II:2 |
M |
12 |
33 |
CF |
CF |
BS |
|
| W09–0048 |
II:1 |
M |
12 |
59 |
LP- |
LP- |
AA, BS, POD |
| W09–0049 |
III:1 |
M |
15 |
68 |
LP- |
LP- |
AA, BS, POD |
| W09–0050 | IV:3 | M | 15 | 48 | LP+ | LP+ | AA, BS, POD |
Clinical characteristics of all affected family members. M: male; F: female. CF: counting fingers; HM: hand motion; LP+: light perception; LP-; no light perception; AA: attenuated arterioles; BS: bone spicules; POD: pale optic disc; n.d.: not determined.