Ophthalmologic manifestations of pseudoxanthoma elasticum.

Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.

Pseudoxanthoma elasticum (PXE) is a hereditary disorder that affects primarily the elasctic tissues in the skin [Figure 1], the eyes, and the blood vessels.[1]

Figure 1

skin changes (yellow papules) in a patient with pseudoxanthoma elasticum

In the eye, the outer layer of the retina, Bruch's membrane, contains elastic fibers. Loss of elasticity and enhanced calcification lead to cracks in Bruch's membrane, which resemble retinal vessels and thus are called angioid streaks of the retina, leading usually after age 40 years to hemorrhages and retinal scarring with as a result in most patients macular degeneration and vision loss.[23]

Ocular signs eventually develop in most patients with PXE. The usual sequence of developing eye abnormalities is peau d'orange [Figures 2 and 3] or mottled hyperpigmentation of the retina, angioid streaks [Figures 4 and 5]. Other retinal lesions: pattern dystrophy, drusen of the optic nerve, peripheral “comet tails” lesions, subretinal fibrosis, and autofluorescent perimacular white spots. The risk of neovascular complications increased with age.[45]

Figure 2

Fundus photograph of the right eye with the “peau d'orange” appearance. Note the barely visible angioid streaks

Figure 3

Fundus photograph of the left eye with the “peau d'orange” appearance and barely visible angioid streaks

Figure 4

Fluorescein angiography of the right eye depicting the angioid streaks in great detail

Figure 5

Fluorescein angiography of the left eye showing the angioid streaks in great detail

We report the case of 38-year-old female presenting yellow soft papules affecting the neck and axillar area. The fundus examination reveals peau d'orange aspect in both eyes and angioid streaks.

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