Fig. 3: The full-field electroretinographies (ffERGs) indicate generalized cone system dysfunction with rod photoreceptor involvement in some patients.
From: Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy
(a) ERGs were conducted in Brazil and show representative ffERGs in a normal subject and patients A.II.1, A.II.2, and B.II.1. Recordings showed a high degree of interocular symmetry, so only one eye is shown. The ERG findings indicate macular dystrophy in patients A.II.1 and A.II.2, with subnormal photopic responses in patient A.II.2; and cone–rod dystrophy in patient B.II.1. (b) ERG was conducted in the UK. Data recorded from the right (RE) and left (LE) eye of patient C.IV.3 are compared with recordings from a representative unaffected control subject (N). Broken lines replace blink/eye movement artifacts occurring after ERG b-waves for clarity. The ERG findings indicate generalized cone system dysfunction with mild rod photoreceptor involvement bilaterally, in keeping with cone–rod dystrophy. Abnormalities of photopic On and Off ERG components and S-cone ERGs are consistent with cone dysfunction affecting postreceptoral signaling to cone On and Off bipolar cells. All recordings were reproducible.
