Figure 1

OCT images using the Heidelberg Spectralis Diagnostic imaging platform. (a) Normal fovea (Mother of proband 13) (b) Foveal hypoplasia grade 1 (brother of proband 13) (c) Foveal hypoplasia grade 3 (Mother of proband 18). Foveal grading according to the Thomas et al. grading system2. Outer nuclear layers (ONL), outer plexiform layers (OPL), inner nuclear layers (INL), inner plexiform layers (IPL), ganglion cell layers (GCL) and retinal nerve fibre layers (RNFL) are labelled.