Clinical characteristics of angioid streaks in Japanese patients

To characterize fundus findings and the presence of pseudoxanthoma elasticum (PXE) in Japanese patients with angioid streaks (AS).

Retrospective, single-center observational study.

This retrospective study included 33 patients (66 eyes) diagnosed with AS who underwent color fundus photography, optical coherence tomography, and fundus autofluorescence. The presence of PXE, peau d'orange, choroidal neovascularization (CNV), macular atrophy, comet tail lesions, pattern dystrophy-like changes, subretinal drusenoid deposits (SDD), outer retinal tubulation (ORT), and optic nerve head drusen were evaluated.

PXE was diagnosed in 15 of 33 patients (45.5%), whereas peau d'orange was observed in 36 eyes (54.5%). There were no significant differences in the prevalence of peau d'orange (P=1.00) or comet tail lesions (P=0.70) between patients with and without clinical PXE diagnosis. CNV and macular atrophy were each present in 31 eyes (47.0%). Comet tail lesions, pattern dystrophy-like changes, SDD, and ORT were found in 17 (25.8%), 21 (31.8%), 6 (9.1%), and 13 (19.7%) eyes, respectively; optic nerve head drusen were not detected. Most pattern dystrophy-like changes (81.0%), SDD (83.3%), and ORT (92.3%) were associated with CNV.

Japanese patients with AS showed a high frequency of CNV, which is often accompanied by macular atrophy and photoreceptor-related structural changes. Furthermore, the prevalence of peau d'orange was higher than of clinically diagnosed PXE, suggesting possible underdiagnosis of PXE in this cohort.