Table 1.
Baseline clinical characteristics of 150 Korean patients with retinitis pigmentosa who were grouped according to causative genes identified through targeted next-generation sequencing.
| Gene | Inheritance | Patients/family no., n/n | Sex | Clinical history, years (range) | BCVA, LogMAR (range) | OCT parameters | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| M : F | Age at first symptom onset | Age at diagnosis | Age at genetic examination | OD | OS | ERM, n (%) | CME, n (%) | Width of EZ band, μm (range) | |||
| EYS | AR | 15/15 | 4 : 11 | 20.0 (7.0–51.0) | 48.0 (34.0–62.0) | 57.0 (37.0–66.0) | 0.3 (0.0–3.0) | 0.2 (0.0–3.0) | 8 (53.3) | 5 (33.0) | 2660.0 (602.0–5180.0) |
|
| |||||||||||
| PDE6B | AR | 10/9 | 5 : 5 | 12.0 (4.0–47.0) | 18.0 (11.0–55.0) | 29.5 (13.0–67.0) | 0.2 (0.0–3.0) | 0.2 (0.0–0.5) | 3 (30.0) | 5 (50.0) | 2644.0 (328.0–4734.0) |
|
| |||||||||||
| RP1 | AD/AR | 9/8 | 4 : 5 | 30.0 (5.0–50.0) | 48.0 (17.0–56.0) | 50.0 (17.0–66.0) | 0.2 (0.0–3.0) | 0.2 (0.0–3.0) | 6 (66.7) | 1 (11.1) | 2380.0 (371.0–8583.0) |
|
| |||||||||||
| USH2A | AR | 12/12 | 6 : 6 | 37.5 (15.0–61.0) | 40.5 (24.0–68.0) | 50.5 (26.0–71.0) | 0.3 (0.0–0.9) | 0.3 (0.0–0.7) | 9 (75.0) | 4 (33.3) | 2380.5 (1010.0–6750.0) |
|
| |||||||||||
| Others | 34/33 | 19 : 15 | 13.0 (5.0–55.0) | 38.0 (13.0–62.0) | 44.5 (17.0–64.0) | 0.3 (0.0–3.0) | 0.4 (0.0–3.0) | 22 (64.7) | 5 (14.7) | 966.5 (259.0–5849.0) | |
|
| |||||||||||
| Variants detected | 80/77 | 38 : 42 | 18.0 (4.0–61.0) | 41.0 (10.0–68.0) | 49.0 (13.0–72.0) | 0.3 (0.0–3.0) | 0.3 (0.0–3.0) | 48 (61.0) | 20 (25.6) | 2057.0 (259.0–8583.0) | |
|
| |||||||||||
| Not identified | 70/67 | 36 : 34 | 24.0 (4.0–67.0) | 45.5 (4.0–70.0) | 49.0 (14.0–81.0) | 0.3 (0.0–3.0) | 0.3 (0.0–3.0) | 34 (48.6) | 25 (35.7) | ||
|
| |||||||||||
| Total | 150/144 | 74 : 76 | 20.0 (4.0–67.0) | 43.0 (4.0–70.0) | 49.0 (13.0–81.0) | 0.3 (0.0–3.0) | 0.3 (0.0–3.0) | 82 (54.7) | 45 (30.0) | ||
BCVA, best-corrected visual acuity; LogMAR, logarithm of the minimum angle of resolution; OCT, optical coherence tomography; M, male; F, female; OD, oculus dexter; OS, oculus sinister; ERM, epiretinal membrane; CME, cystoid macular edema; EZ, ellipsoid zone; AR, autosomal recessive; AD, autosomal dominant.