Figure 2.

LA3 ERGs in patients with post-phototransduction deficits, recorded with conductive fibre electrodes. (A) Example ERGs from a healthy individual; the green arrow denotes the i-wave. (B, C) ERGs from patients with complete CSNB, entailing loss of ON pathway signals: B depicts recordings from a male patient hemizygous for a variant in NYX (c.106_111del p.(Ala36_Cys37del); reference sequence NM_022567.2); C depicts recordings from a female patient with biallelic variants in TRPM1 (c.1780C>T p.(Arg594Trp) and c.2900G>A p.(Arg967Gln); and reference sequence NM_001252020.1). (D) ERGs from a male patient with incomplete CSNB (associated with a variant in CACNA1F, namely c.3213T>G p.(Asn1071Lys); reference sequence NM_005183.2), where both ON and OFF pathways are impaired. The i-wave appears preserved in the patients with complete CSNB B and C, but abolished in the patient with incomplete CSNB D.