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  • Title: [Retinal lesions in pseudoxanthoma elasticum: 51 patients].
    Author: Trélohan A, Martin L, Milea D, Bonicel P, Ebran JM.
    Journal: J Fr Ophtalmol; 2011 Sep; 34(7):456-67. PubMed ID: 21722988.
    Abstract:
    OBJECTIVE: Description of retinal lesions in patients with pseudoxanthoma elasticum (PXE). PATIENTS AND METHODS: This cross sectional study evaluated 51 consecutive patients (31 women and 20 men, mean age, 47 years±16) from June 2008 to September 2010. Clinical and fundoscopic evaluations were performed for each patient with fundus images: colour, red-free, autofluorescence of the central retina, and red-free of the retinal periphery. Several patients were examined with fluorescein angiography, indocyanine green angiography, or optical coherence tomography when neovascular complications were suspected. RESULTS: In addition to classical angioid streaks and "peau d'orange" aspects, we identified several other retinal lesions: pattern dystrophy, drusen of the optic nerve, peripheral "comet tail" lesions, subretinal fibrosis, and autofluorescent perimacular white spots, suggesting atrophy of the pigmented epithelium overlying the "peau d'orange" lesions, which appeared earlier, with onset subsequently followed by angioid streaks. The incidence of "peau d'orange" decreased with age. Subretinal fibrosis and pattern dystrophy of the macula were often associated and occurred around 40 years of age. The risk of neovascular complications increased with age. CONCLUSION: Macular decompensation most often occurring around the age of 50 is a common event in PXE, associated with aging, disappearance of "peau d'orange", changes in angioid streaks, and development of atrophy of the retinal pigment epithelium.
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