Fundus autofluorescence in patients with pseudoxanthoma elasticum

Purpose: To evaluate the autofluorescence findings of patients with pseudoxanthoma elasticum, a disease resulting from a defect in a reputed transport protein encoded by the gene adenosine triphosphate-binding cassette subtype C number 6. Design: Observational case series. Methods: Color, red-free monochromatic, and autofluorescence photography and fluorescein angiography of patients with pseudoxanthoma elasticum seen in a referral practice were evaluated. Main Outcome Measures: Cataloging of the abnormalities as detected by autofluorescence photography. Results: The 8 subjects ranged in age from 26 to 60 years (mean, 55 12), and their best-corrected visual acuity ranged from 20/20 to 5/400 (mean, 20/50). Of the 16 eyes of the 8 patients, all had abnormalities typical of pseudoxanthoma elasticum, including angioid streaks in 14, peau d'orange in 4, and choroidal neovascularization in 11. Angioid streaks appeared as hypoautofluorescent fissures, sometimes showing expansion of the hypoautofluorescence suggestive of retinal pigment epithelium (RPE) absence or atrophy. Peau d'orange had a stippled appearance of autofluorescence, and drusen of the optic nerve appeared as hyperautofluorescent bodies. In addition to the expansion of RPE atrophy around angioid streaks, 3 additional configurations of RPE atrophy were recognized as RPE rips in 6 eyes, multilobular areas of atrophy in 9 eyes, and broad areas of poorly demarcated atrophy in 5 eyes. Some eyes had more than one manifestation of RPE atrophy, but the latter 3 types of atrophy occurred in eyes with, but not necessary contiguous to, concurrent choroidal neovascularization. Conclusions: Autofluorescence photography demonstrated that patients with pseudoxanthoma elasticum have more widespread areas of RPE disturbance, particularly atrophy, than what is detectable by other means of ocular imaging, which suggests that the RPE disturbance may play a role in the pathogenesis of visual loss in patients with pseudoxanthoma elasticum.