Table 3. Clinical Examination of select SNRNP200 patients.
| Patient ID | Age of onset | Age of exam | Visual acuity | Visual field (degrees across horizontal meridian) | Dark-adapted combined / mixed response wave values | Light-adapted response - Flicker response wave values |
|---|---|---|---|---|---|---|
| RFS048–5420 |
5 |
14 |
20/32 OD 20/40 OS |
18° ODS 18° OSS |
8.5 |
2.3 |
| RFS048–4884 |
21 |
40 |
20/40 OD 20/32 OS |
9° ODS* 12° OSS* |
non-detectable (at age 28) |
0.6 (at age 28) |
| RFS048–4879 |
not known |
46 |
20/40 OD 20/32 OS |
not done |
14.6 |
8.6 |
| RFS910–01 |
not known |
50 |
20/40 OD 20/50 OS |
6° ODK <5° OSK |
non-detectable |
non-detectable |
| UTAD543–01 |
13 |
76 |
10/200 OD HM @ 2 feet OS |
5° ODK 7° OSK |
non-detectable |
non-detectable |
| UTAD565–02 |
8 |
59 |
3/200 OD 20/400 OS |
<5° ODK 8° OSK |
non-detectable (at age 40) |
non-detectable (at age 40) |
| UTAD565–01 |
24 |
24 |
20/60 OD 20/50 OS |
35° ODK with temporal island
35° OSK with temporal island |
non-detectable |
2.1 |
| UTAD565–00 |
NA |
66 |
20/20 OD 20/20 OS |
145° ODK 145° OSK |
Within normal limits |
Within normal limits |
| UTAD701–01 |
4 |
34 |
20/63 OD 20/50 OS |
110° ODK+ 105° OSK+ |
severely reducedt |
11.0 |
| UTAD728–01 |
12 |
47 |
20/100 OD 20/160 OS |
20° ODS 20° OSS |
not done |
not done |
| UTAD728–02 |
20 |
54 |
20/640 OD 20/160 OS |
5° ODS 10° OSS |
not done |
not done |
| UTAD728–03 |
35 |
50 |
20/25 OD 20/20 OS |
not done |
not done |
not done |
| UTAD786–01 | 10 | 30 | 20/25 OD 20/25 OS | 100° ODK 75° OSK | not done | not done |
Age of onset was based on patient self-reporting with the exception of UTAD565–02 which was based on medical records. K=kinetic visual field by Goldmann perimeter: III4e unless otherwise noted; S=static visual field by Humphrey perimeter: 30–2, spot size III unless otherwise noted; *Spot size was used V# I4e isopter +V4e isopter tB24Blink artifact from this patient contaminated mixed a and b wave measurements such that an exact value couldn't be determined.