Table 2 of Eidinger, Mol Vis 2015; 21:1295-1306.


Table 2. Clinical characteristics of affected individuals from family TB126.

Patient
No.
Sex Age
(y) Best-Corrected Visual
Acuity ffERGa,b Pattern VEP
P100 Flash VEP EOG
Arden
ration i Color vision j Visual
Field
LA DA
Single flashc
Amp Latency
(μV; mS) Flicker (30Hz)d
Amp Latency
(μV; mS) Rod response
(μV) e Mixed Rod-Cone (Moderate stimulus)
(μV)g Mixed Rod-Cone (Bright stimulus)
(μV)h
II-1
F 17 OD 3/60
OS 6/60 12; 57 0 15 a 11
b 77 a 16
b 84 No typical responses were recorded
(BE) Typical waves of normal latency
(BE) OD 1.92
OS 1.86 Ish: BE 1st panel not seen
D-15: BE no typical axis was observed Large central scotomas with residual paracentral islands of vision
(BE)
II-3
F 8 OD 6/12
OS 6/12 0 0 0 a 10
b 90 a 17
b 76 Normal amplitudes and delayed latency
(BE) Typical waves of normal latency
(BE) ND ND Paracentral scotomas (BE)
II-4
M 9 OD 6/12
OS 6/20 14; 42 11; 41 0 a 7
b 84 a 27
b 89 Slightly reduced amplitudes and prolonged latency (BE) Typical waves of normal latency
(BE) ND ND Extensive central scotomas (BE)