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

Figure 6

Optical Coherence Tomography (OCT): quantitative analysis of retinal stratification. DIOCTA [11] analysis of retinal stratification and layer thickness from the patients’ OCT-scans in Figure 5 and from the corresponding scans of the left eye of the two daughters (2837.03 and 2837.04; symbols as provided). (a) Whole retina, (b) inner retinal layers (RNFL to INL), and (c) outer retinal layers (OPL – RPE) compared with boxplots of data from controls. The ordinate represents the thickness of the retinal layer measured as mean thickness of each scan in a given ETDRS field (see ETDRS grid for localization). Single scans cover values for three fields only (C: foveal, central; MT: macular circle, temporal; MN: macular circle, nasal) while volume scans additionally cover the macular, superior, and macular, inferior field (MS and MI). Peripheral fields (see ETDRS grid for comparison) were not investigated. Box plots display distribution of layer thickness values measured from volume scans of control children between 3 y and 18 y of age and control adults above the age of 18 y. Boxes enclose the 25th to 75th percentiles, whiskers the 10th to 90th percentiles and the horizontal line in each box marks the median. Limited cooperation in patient 2837.04 caused off-foveal positioning of the single scan line and hence the inner retinal layers thickness is increased. Compared to their father, thickness values from the two homozygous daughters for all retinal layers in the central field were mostly below the 25th percentile and less of normal control children. Except for the central retinal field, thickness was clearly reduced in all three patients, for the whole retinal thickness, but more pronounced for the inner retinal layers ((b) and (c)).