Figure 4.
Repartition between the two genotypic subtypes for electroretinography (ERG) groups (on the left) and peripapillary sparing (on the right). For ERG classification, group I has abnormal multifocal (mf-) ERG with normal full-field (ff-) ERG; in group II there were mf-ERG abnormalities with cone dysfunction (assessed with light-adapted 30 Hz flicker and light-adapted 3.0); Group III has additional rod dysfunction (assessed using dark-adapted 0.01 and dark-adapted 10.0). Peripapillary area was considered speared (Yes in the graph) if no alterations were found in the fundus autofluorescence within 0.6 mm from the optic disc edge. This area was not considered speared when flecks or ellipsoid zone (EZ) and/or retinal pigment epithelium (RPE) atrophy were present (see Table 3 for classifications). Photoreceptors dysfunction (ERG groups II and III) and peripapillary area involved with the presence of flecks or atrophy are more prevalent in the group of patients with at least one null mutation.