Purpose: To evaluate the fundus phenotype of young patients affected with Pseudoxantoma Elasticum (PXE). Materials and Methods: Retrospective case series of five young PXE patients. Clinical data, ultra-widefield imaging (color, red-free (RF), choroidal (Ch) and fundus autofluorescence (FAF)) and OCT examination were collected. Diagnosis was confirmed by the characteristic histopathological abnormalities in skin biopsies and genetic testing results. Results: Five patients, 2 males and 3 females (mean age 16 years, range 12–20 years) were included in our study. The visual acuity was 20/20 in all subjects. Fundus evaluation revealed peau d’orange in all patients: multiple, yellowish/white round lesions, scattered from the posterior pole to the mid-peripheral retina of each eye. Ultra-wide field imaging allows us to capture and describe the entire area of coquille d’oeuf/peau d’orange in a single picture, facilitating their identification and discrimination. Angiod streaks were visible in both eyes of four patients. In one patient optic disc drusen were detected in both eyes. All patients presented comet lesions. Conclusions: PXE-related retinopathy findings: peau d’orange/coquille d’oeuf, angioid streaks, comet lesions and drusen of the optic disc were present early in PXE patients. The early detection of coquille d’oeuf/peau d’orange revealed a preferable area into midperiphery where Bruch’s membrane will be more likely to be affected.

Coquille d’oeuf in young patients affected with Pseudoxantoma elasticum / Murro, V.; Mucciolo, D. P.; Giorgio, D.; Sodi, A.; Boraldi, F.; Quaglino, D.; Virgili, G.; Rizzo, S.. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - 40:3(2019), pp. 242-246.

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