Table 1 Demographic and clinical characteristics of 15 patients from 14 families with retinitis pigmentosa associated with PDE6B variants; visual and retinal parameters were assessed at the time of genetic testing.
Family no. | Subject no. | Age, years | Sex | Follow-up duration, years | BCVA, LogMAR | First symptom | Age at diagnosis, years | Family history | Visual field | OCT parameters | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OD | OS | Age at onset, years | Chief complaint | IS/OS, μm | CRT, μm | ONLT, μm | ERM | CME | ||||||||
1 | 1-III-1 | 14 | M | 3 | 0.00 | 0.00 | 7 | Night blindness | 11 | No | PRS | 3654 | 253 | 70 | No | Yes |
2 | 2-III-2 | 26 | F | 2 | 0.40 | 0.15 | 10 | Dyschromatopsia | 11 | No | PRS | 2420 | 248 | 90 | Yes | Yes |
3 | 3-III-1 | 13 | F | 1 | 0.40 | 0.20 | 4 | Decreased VA | 12 | No | Center < 20° | 1719 | 306 | 94 | No | Yes |
4 | 4-II-3 | 67 | M | 2 | 3.00 | 0.50 | 10 | Night blindness | 20 | Yes | TVFD (OD) | 473 | 315 | 21 | Yes | Noa |
PP (OS) | ||||||||||||||||
5 | 5-III-1 | 17 | F | 1 | 0.15 | 0.00 | 15 | Night blindness | 16 | Yes | center < 30° | 4658 | 261 | 97 | No | No |
5 | 5-III-2 | 15 | M | 1 | 0.10 | 0.10 | 14 | Night blindness | 14 | Yes | center < 30° | 3889 | 273 | 89 | No | No |
6 | 6-II-3 | 40 | F | 4 | 0.00 | 0.00 | 30 | Night blindness | 40 | No | N/A | 2644 | 271 | 62 | No | No |
7 | 7-II-5 | 55 | M | 1 | 0.40 | 0.40 | 47 | Night blindness | 55 | No | PRS | 1495 | 235 | 62 | Yes | Yes |
8 | 8-II-2 | 33 | F | 1 | 0.00 | 0.40 | 14 | Night blindness | 33 | Yes | PRS | 4046 | 284 | 72 | No | Yes |
9 | 9-II-3 | 62 | M | 1 | 3.00 | 0.50 | 10 | Night blindness | 20 | Yes | TVFD (OD) | 328 | 195 | N/A | Yes | Noa |
PP (OS) | ||||||||||||||||
10 | 10-II-3 | 50 | M | 3 | 3.00 | 3.00 | 5 | Night blindness | 24 | No | PP | 394 | 217 | N/A | Yes | Noa |
11 | 11-II-5 | 38 | M | 6 | 0.40 | 0.40 | 10 | Night blindness | 21 | Yes | Center < 15° | 1401 | 230 | 31 | Yes | Yes |
12 | 12-II-1 | 44 | F | 12 | 0.40 | 1.00 | 7 | Night blindness | 31 | No | Center < 10° | 812 | 189 | 38 | Yes | No |
13 | 13-II-5 | 67 | F | 6 | 0.10 | 0.10 | 42 | Night blindness | 60 | No | Center < 10° | 4715 | 252 | 56 | Yes | No |
14 | 14-II-5 | 56 | F | 2 | 1.30 | 0.40 | 6 | Night blindness | 44 | No | PP | 803 | 257 | 35 | No | Yesa |
Median | 40.0 | 2.0 | 0.40 | 0.40 | 10.0 | 21.0 | 1719.0 | 253.0 | 62.0 | |||||||
Mean | 39.8 | 3.1 | 0.84 | 0.48 | 15.4 | 27.5 | 2230.1 | 252.4 | 62.2 | |||||||