Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity

Figure 5

Optical Coherence Tomography (OCT): A-scans and B-scans. (a–d) Single scan OCT recorded on a Spectralis HRA (Heidelberg Engineering, Heidelberg, Germany) from the right eyes of the homozygous index case ((a) 2873.01) at age 7.3 y, her homozygous sister ((b) 2837.04) aged 4.2 y, the hemizygous father ((c) 2837.03) aged 28.8 y, and an unaffected control patient aged 6.5 y (d). The infrared fundus image at the left illustrate scan positions of the corresponding OCT-scan. In panel (b) the scan is slightly below the fovea and hence outer plexiform and ganglion cell layer are slightly thicker (see lower panel (b) and Figure 6). All retinal layers can be clearly distinguished. (e) For a detailed analysis DIOCTA software [11] was used to extract a-scans at the fovea and flanking positions 200 scans to each side marked with black arrow-heads in (a–d) (see corresponding labelling below). A-scans are aligned to each other at the RPE peak. Presence of all retinal layers is supported by this panel but reduction of retinal thickness is obvious for the homozygous females in the temporal A-scans and less pronounced in the foveal and nasal A-scans. RNFL: retinal nerve fiber layer, GCL: ganglion cell layer, IPL: inner plexiform layer, INL: inner nuclear layer, OPL: outer plexiform layer, ONL: outer nuclear layer, ELM: external limiting membrane, IS: inner segment layer, ISe: inner segment ellipsoid zone, OS: outer segment layer, and RPE: retinal pigment epithelium.

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