Atypical fundus lesions in juvenile pseudoxanthoma elasticum

Background: To report two cases with previously undescribed fundus lesions as early ocular signs of pseudoxanthoma elasticum (PXE). Methods: Clinical work-up including color photography and fundus fluorescein angiography (FFA). Results: A 10-year-old girl and an 8-year-old boy (siblings) presented with dermatological exacerbations of PXE. On ophthalmological examination, both patients showed multiple, round, and yellowish white lesions located from the perifoveal area through to the midperipheral retina. FFA revealed hyperfluorescence without leakage during any phase, in accordance with the location of the lesions on the fundus. Conclusion: Atypical fundus lesions in early childhood may be early ocular signs of PXE, in contrast to other well-known manifestations that appear in later decades. Copyright (C) 2007 S. Karger AG, Basel.