Abstract
PURPOSE: To assess the quantitative differences in vessel density and retinal thickness of X-linked retinoschisis (XLRS) patients and RS1 mutation carriers, and the correlation with best-corrected visual acuity (BCVA) with swept source optical coherence tomography (SS-OCT) and OCT angiography (OCTA). METHODS: We analyzed the correlation between the BCVA of XLRS patients and the SS-OCT and OCTA findings including the detailed structural characteristics of XLRS patients. RESULTS: Besides the schitic changes in various retinal layers, the structural disturbance of outer retina was universally found. In 29 eyes included in the quantitative analysis, XLRS patients showed lower vessel density of the superficial capillary plexus, deep capillary plexus and lower thickness of the outer nuclear layer. BCVA was correlated with the thickness of the outer plexiform layer and outer nuclear layer and the thickness from the outer limiting membrane to the retinal pigment epithelium. Carriers showed higher thickness of outer plexiform layer and smaller foveal avascular zone area. CONCLUSIONS: SS-OCT and OCTA could identify the pathological alterations of the individual retinal layers and capillaries, which could pinpoint the exact location of the damages related to visual impairment. In the carriers, the subtle alterations that can be detected with SS-OCT, despite their normal visual acuity, may be caused by the lyonization. TRANSLATIONAL RELEVANCE: Swept source optical coherence tomography can be used as an efficient technique to expose the retinal damage related to visual impairment for prognosis and follow-up.