摘要：To investigate the impact of pseudoxanthoma elasticum (PXE), a rare hereditary disease of concurrent vision impairment (VI) and cardiovascular complications (CVCs), on vision-related (VRQoL) and health-related quality of life (HRQoL). VRQoL and HRQoL were assessed using the Impact of Vision Impairment (IVI) questionnaire and the Short Form Health Survey (SF-36) in 107 PXE patients. Patients were stratified into four groups: A = no VI or CVC; B = CVCs only; C = VI only; and D = both VI and CVCs. Following Rasch analysis, the IVI was found to function as a vision-specific functioning and emotional well-being subscale, and the SF-36 as a health-related physical functioning and mental health subscale. The presence of VI and CVC were significant predictors of vision-specific functioning and emotional well-being (p < 0.001), with a clinically meaningful decrement in vision-specific functioning in patients with VI. No associations were found for the SF-36 Physical Functioning and Mental Health scores between any groups. Vision impaired patients with PXE report significantly poorer vision-specific functioning than PXE patients without VI. In contrast, the relative impact of PXE on reported general HRQoL was much less. Our results suggest that vision impairment has the larger impact on QoL in this sample.
关键词：Vision-related quality of life (VRQoL) ; health-related quality of life (HRQoL) ; visual impairment ; cardiovascular disease ; Pseudoxanthoma elasticum (PXE) ; Impact of Vision Impairment Questionnaire (IVI) ; SF-36
