Abstract
Patients with LCHADD develop progressive chorioretinopathy with vision loss over time. To date, no data on the impact of vision loss on patient vision-specific activities of daily living or quality of life have been reported. We used validated ophthalmic patient-reported outcome measures (PROMs) to compare the impact of patient-perceived visual function to visual acuity and an ophthalmologist-graded stage of LCHADD chorioretinopathy. There was a strong correlation between the patient-reported visual function scores, visual acuity and the ophthalmologist's assigned stage. Adult patients reported lower driving and mental health scores compared to other visual subscales in the VFQ-25. Both children and their parents report a similar impact of their child's eye condition to their quality of life and worry about their vision. These validated PROMs captured functional vision in a group of 40 patients with LCHADD/TFPD that closely correlated with visual acuity and ophthalmologist-graded visual function.
Published Version
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