Table 1

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

PatientAge at examination (years)SexVisual 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:429M0.67/0.02−3.00/−3.00No responseNo responseNo response
II:1037M0.60/0.100.00/0.0016/40No response89/59
IV:217M0.16/0.670.00/0.00No responseNo responseNo response
IV:31/2F0.20/0.204.50−1.50×0°/4.50−1.50×0°55/32No response165/56
  • * 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%).