Decreased thickness of peripapillary retinal nerve fiber layer and ganglion cell complex in patients with Werner's syndrome

Abstract

AbstractPurposeWerner's syndrome is a rare autosomal recessive disorder that is characterized by a premature aged‐appearance, for example, grey hair, scleroderma‐like skin in young adults. It typically starts in the 20–30s followed by age‐related disorders such as juvenile cataracts, diabetes mellitus, atherosclerosis, cancers, and osteoporosis. The purpose of this study was to assess the alterations of the peripapillary retinal nerve fiber layer (pRNFL) and ganglion cell complex (GCC) in patients with Werner syndrome. The retinal images obtained by spectral‐domain optical coherence tomography (SD‐OCT) from eight patients with Werner's syndrome were compared to those of 10 age‐matched healthy controls.MethodsSixteen eyes of eight patients with Werner's syndrome consisting of four men and four women were studied. The 16 eyes of the Werner's patients were compared to 20 eyes of 10 volunteers (five men and five women) who had no high myopia, glaucoma, or other macular disorders as healthy controls. There was no significant difference in the ages (p > 0.05) and the axial length (WS, 23.91 ± 0.85 mm; Control, 23.7 ± 1.04 mm; p > 0.05) between the two groups. We quantified the mean thickness of the pRNFL and the GCC from the OCT images for both groups. The significance of the differences in the findings was determined with the Mann–Whitney U‐test. Statistical significance was defined as p < 0.05.ResultsThe mean pRNFL thickness in the Werner's group was 88.1 ± 16.9 μm which was significantly thinner that of the control group at 109.8 ± 13.0 μm (p < 0.05). The mean GCC thickness was 80.8 ± 10.3 μm in the Werner's group which was also significantly thinner than that of the control group at 95.4 ± 5.65 μm (p < 0.05).ConclusionsThe significantly thinner pRNFL and GCC in the Werner's group than the control group indicates that ophthalmologists should consider Werner's syndrome in their differential diagnosis when a similar finding is made in a young individual.