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Introduction: Fabry disease (FD), an X-linked lysosomal storage disorder, causes intracellular accumulation of glycosphingolipids leading to progressive renal, cardiac, and cerebrovascular disease. Enzyme replacement therapy (ERT) is effective in reducing cardiac hypertrophy but has a limited effect on renal function, whereas there is still no clear evidence of the benefit of ERT for incident stroke. An enlarged basilar artery (BA) diameter has been of particular interest as an early and potential risk factor for stroke. However, the long-term effect of ERT for BA diameter in patients with FD are unknown.Hypothesis: We hypothesized that effect of ERT exerts a certain influence on for BA diameter in patients with FD. The aim of our study was to investigate the clinical characteristics of BA diameter in patients with FD.Methods: We retrospectively enrolled consecutive patients with FD who were treated ERT and underwent brain MRI. The short axis of BA diameter was measured at the midpons level on the axial T2-weighted image. Baseline MRI was used to determine cerebral small vessel disease (SVD); lacuna, white matter hyperintensities [WMH] and atrophy. Linear regression analyses were performed to evaluate the variables associated with BA diameter.Results: We enrolled 30 patients (mean age; 41.3 ± 15.1 years, male; 14). The baseline BA diameter was 3.16 ± 0.51 mm. Hypertension, cardiomegaly, chronic kidney disease, previous stroke, lacuna, and WMH were associated with initial BA diameter. Follow-up MRI was performed in 18 patients (male; 10) after a mean interval of 5.2 ± 3.7 years. Annual change in BA diameter was 0.06 ± 0.12 mm. Enlargement of BA diameter was positively correlated with baseline lacuna and severity of WMH. Furthermore, the duration of therapy between baseline ERT and follow-up MRI was inversely correlated with annual change of BA diameter (β= -0.518, P= 0.033). Given the stratification of the patient groups for gender, only male patients are observed for the significant correlation (β=-0.706, P= 0.022).Conclusion: In FD patients, enlarged BA diameter was associated with SVD. Furthermore, ERT might modify the natural course of BA diameter, especially for male patients.