Coquille d’oeuf in young patients affected with Pseudoxantoma Elasticum

Abstract Purpose: To evaluate the fundus phenotype of young patients affected with Pseudoxantoma Elasticum (PXE). Materials and Methods: Retrospective case series of 5 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 evaluations 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 4 patients. In 1 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.