Table 1. Clinical characteristics of the patients screened for TULP1 mutations.
| Family | ID | C-Age (Yr.) | D-age (Yr.) | First symptoms | Night blindness | Fundus examination |
Electroretinography |
Visual acuity |
||
|---|---|---|---|---|---|---|---|---|---|---|
| OD | OS | OD | OS | |||||||
| PKRP259 |
10 |
28 |
6 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/36 |
6/40 |
| PKRP259 |
15 |
22 |
7 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/24 |
6/24 |
| PKRP268 |
12 |
17 |
7 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/20 |
6/20 |
| PKRP268 |
13 |
14 |
6 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/20 |
6/20 |
| PKRP301 |
14 |
20 |
5 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/18 |
6/20 |
| PKRP301 |
17 |
14 |
5 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/20 |
6/24 |
| PKRP309 |
11 |
34 |
6 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/30 |
6/28 |
| PKRP309 |
15 |
25 |
7 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/25 |
6/25 |
| PKRP356 |
10 |
10 |
5 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/12 |
6/12 |
| PKRP356 |
12 |
8 |
5 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/20 |
6/20 |
| PKRP364 |
10 |
58 |
7 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/50 |
6/50 |
| PKRP364 |
20 |
21 |
8 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/24 |
6/24 |
| PKRP367 |
11 |
31 |
6 |
Night blindness |
progressive |
MD, Art. Atten, Pig.dep, PD |
NAB, NF |
NAB, NF |
6/24 |
6/28 |
| PKRP367 | 12 | 20 | 7 | Night blindness | progressive | MD, Art. Atten, Pig.dep, PD | NAB, NF | NAB, NF | 6/20 | 6/20 |
MD: macular degeneration; Art. Atten: artery attenuation; Pig.dep: pigment deposit; PD: Pale optic disc; NAB: no ‘a’ or ‘b’ wave response; NF: no flicker response; C-Age: current age; D-Age: age at first diagnosis of the retinal dystrophy.