A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness

Figure 2

Electroretinograms of the family with adCSNB show Riggs phenotype. Representative responses are shown (a) from a normal eye and (b) from father and daughter. Note, total absence of the rod responses (scotopic 0.01 stimuli) and rod-cone responses showing only a waveform similar to the cone signals (scotopic 3.0 stimuli). The cone responses (photopic 3.0 stimuli) were normal, as were the times-to-peak of the flicker responses. Dotted lines replace movement artifact.

(a)

(b)