Bilateral angioid streaks in a young patient with pseudoxanthoma elasticum

A 21-year-old woman with a diagnosis of pseudoxanthoma elasticum (PXE), based on a skin biopsy performed a few months before, presented at our clinic complaining of mild visual loss in the left eye (LE). Past ocular history was unremarkable and past medical history was positive for neck skin lesions for 4 years and the she was followed by the dermatologists. Best-corrected visual acuity was 20/20 in the RE and 20/25 in the LE. The anterior segment examination was unremarkable in both eyes (BE). Intraocular pressure was 12 mmHg in BE. At the fundus examination, she was found to have angioid streaks in BE [Figure 1a and b]. Furthermore, "peau d'orange" appearance was present in BE [Figure 1a and b]. Moreover, a fibrotic reaction was observed along the angioid streaks in the LE [Figure 1b]. Although the macular area appeared to be involved in the LE, surprisingly BCVA was still fairly preserved. Fundus autofluorescence and optical coherence tomography showed the presence of optic disc drusen in BE [Figures 2a, b and 3a, b]. No sign of choroidal neovascularization (CNV) was observed in BE, as fluorescein angiography and indocyanine green angiography confirmed [Figures 4a, b and 5a, b]. The patient needed no treatment and she was advised to attend the clinic for the regular follow-up visits.Figure 1: Angioid streaks (black arrows) in the right eye (a) and in the left eye (b). "Peau d'orange" appearance (white arrows) in the right eye (a) and in the left eye (b). Fibrotic reaction along the angioid streak (yellow arrow) in the left eye (b)Figure 2: Fundus autofluorescence examination showed optic disc drusen as hyperautofluoresecnt structures with irregular borders in the right eye (a) and in the left eye (b)Figure 3: Appearance of optic disc drusen in the right eye (a) and in the left eye (b) on optical coherence tomographyFigure 4: Fluorescein Angiography showed angiod streaks in the right eye (a) and in the left eye (b), with "window defect" due to atrophy of retinal pigment epithelium adjacent to angiod streaks. Choroidal neovascularization was not observedFigure 5: Indocyanine green angiography identified angiod streaks as hypofluorescent lines in the right eye (a), hypofluorescent lines and hyperfluorescent lines with "pinpoints" (black arrows) over their lenght in the left eye (b). Choroidal neovascularization was not observedPXE is a hereditary disease characterized by degeneration of elastic fibers and calcification. ABCC6, an ATP-binding cassette transporter gene encoding a multidrug resistance protein (MRP6), had been identified as the defective gene.[1,2] Ocular manifestations include angioid streaks, peau d'orange, and optic disc drusen.[2] CNV is one of the most common causes of acute vision loss in PXE patients.[3] Angioid streaks are retinal pigment streaks due to breaks of Bruch's membrane, appearing as dark or reddish radial streaks from the optic disc, and granular pigment abnormalities called "peau d'orange" appearance can be observed.[1] Angioid streaks can be complicated by CNV developing in 50%–70% of cases.[3] In such eventuality, the treatment with anti-vascular endothelial growth factor injections such as ranibizumab, aflibercept, and off-label bevacizumab are recommended in order to stabilize the visual acuity.[3-5] Ophthalmologists should be aware of the association of angioid streaks with PXE since an early diagnosis and the possible further treatment of the complications are necessary to prevent the irreversible visual loss. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.