Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa

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.