Segmentation of the foveal and parafoveal retinal architecture using handheld spectral-domain optical coherence tomography in children with Down syndrome

Background Down syndrome is a common multigene, multisystem disorder associated with abnormalities of visual function and characteristic changes in the majority of tissues in the eye. Historic descriptions of macular structure in Down syndrome have been variable, but optical coherence tomography allows increasingly detailed characterization of retinal architecture in vivo. We demonstrate the feasibility of retinal imaging in children with Down syndrome using handheld OCT in an outpatient clinical setting, and describe the foveal and parafoveal retinal architecture in this group. Methods Fourteen White British children aged between 4 and 11 with Down syndrome were recruited to have handheld SD-OCT retinal imaging performed at a single centre in an outpatient clinical setting. The thickness of the retinal layers at the fovea and parafovea was analysed using segmentation software, and compared with age-matched controls from a previously published normative UK dataset. Results Sixty-seven percent of the children studied had grade 1 foveal hypoplasia. At the fovea, the ganglion cell layer ( p = 0.002) and inner nuclear layer ( p < 0.001) were thickened relative to the control group. At the parafovea, there was thickening of the retina attributable to numerous layers in both the inner and outer retina, which remained significant after Bonferroni correction. Conclusion OCT imaging of children with Down syndrome in an outpatient setting is feasible. There is a high incidence of foveal hypoplasia in this group, associated with thickening of the ganglion cell and inner nuclear layers at the fovea.