Table 1

Clinical and electrophysiological characteristics of patients with CORD caused by PCDH21 mutations

Patient	Age at examination (years)	Sex	Visual acuity (right/left)	Refraction (right/left)	ERG (right eye) cone response^* (amplitude (μV)/implicit time (ms))	ERG (right eye) rod response^* b-wave (amplitude (μV)/implicit time (ms))	ERG (right eye) cone-rod response^* a–b-wave (amplitude (μV)/implicit time (ms))
II:4	29	M	0.67/0.02	−3.00/−3.00	No response	No response	No response
II:6	36	F	0.10/0.10	−2.25−1.50×25°/−2.50–1.00×0°	10/42	132/80	140/62
II:10	37	M	0.60/0.10	0.00/0.00	16/40	No response	89/59
IV:1	2	F	0.08/0.08	5.50−3.00×5°/4.50−2.50×170°	44/39	206/112	280/66
IV:2	17	M	0.16/0.67	0.00/0.00	No response	No response	No response
IV:3	1/2	F	0.20/0.20	4.50−1.50×0°/4.50−1.50×0°	55/32	No response	165/56

↵* ERG normal values. Cone scotopic flicker response: amplitude median 94 μV, range 53–145 μV (5–95%), implicit time median 29.0 ms, range 27.0–34.0 ms (5–95%). Rod low-intensity flash response: b-wave amplitude median 210 μV, range 124–302 μV (5–95%), implicit time median 103.0 ms, range 81.0–123.0 ms (5–95%). Cone-rod high-intensity flash response: a–b-wave amplitude median 427 μV, range 285–674 μV (5–95%), implicit time median 48.0 ms, range 41.0–55.0 ms (5–95%).