Figure 3.

LA3 ERGs in additional patients with complete and incomplete CSNB, recorded with gold foil electrodes. Recordings from patients with genetic variants associated with complete CSNB (giving selective ON-pathway loss) are shown in (A, B, E, F). Recordings from patients with variants associated with incomplete CSNB (entailing attenuation of both ON- and OFF-pathways) are shown in (C, D, G). A Female homozygous for variant in TRPM1 NM_001252020.1:c.2045T>C p.(Leu682Pro). B Male hemizygous for NYX NM_022567.2:c.647A>G p.(Asn216Ser). C Male hemizygous for CACNA1F NM_005183.2:c.4147G>A p.(Glu1383Lys). D Female homozygous for CABP4 NM_145200.5:c.646C>T p.(Arg216*). E Female homozygous for GRM6 NM_000843:C.19340G p.(Pro645Arg). F Female with biallelic variants in GRM6, c.58_72de1 p.(Trp20_Ala24del) and c.1957C>T p.(Arg653Cys); reference sequence, NM_000843.3. G Male hemizygous for CACNA1F NM_005183.2:c.784C>T p.(Arg262*). As in Figure 2, the i-wave (highlighted by the green arrow in A) persists in patients with selective ON-pathway loss and is not discernible in patients with both ON and OFF-signal attenuation.