Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study

ABSTRACTThe purpose of this study was to evaluate retinal thickness in different Xeroderma Pigmentosum (XP) complementation groups using spectral-domain optical coherence tomography (SD-OCT).This was a cross-sectional pilot study of 40 patients with XP. All patients had healthy-looking retinae and optic nerves on slit lamp biomicroscopy, and subtle or no neurological deficits. Patients were divided into two groups based on the known tendency for neurodegeneration associated with certain XP complementation groups. A third control group was obtained from a normative database. Using SD-OCT, we compared peripapillary retinal nerve fibre layer (pRNFL) and macular thickness between the groups.XP patients with a known tendency for neurodegeneration were found to have a statistically significant reduction in both pRNFL (p < 0.01) and macular thickness (p < 0.001) compared with healthy controls. In contrast, there was no statistically significant difference between pRNFL and macular thickness in XP patients not ex...