OBJECTIVE: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE).
METHODS: This is a retrospective case series of 62 eyes of 31 elderly PXE patients (age > 50 years). Clinical data, ultra-widefield fundus imaging (color, red-free (RF), infra-red imaging (IR), fundus autofluorescence (FAF)), and OCT examinations were collected. Diagnosis was confirmed by genetic testing or skin biopsy.
RESULTS: Thirty-one patients (10 males and 21 females (mean age 61.3 years, range 50-74 years)) were included in our study. Visual acuity ranged from 20/20 Snellen equivalent to 20/200. The mean follow-up was 66.4 ± 20.7 months (range 10-88). Pattern dystrophy-like changes (PD) (52 eyes of 26 patients, 83.8%) and atrophy resembling the \"diffuse trickling\" pattern described in geographic atrophy were present in the majority of patients. Twenty-three eyes of 12 patients (67.6%) had peripapillary atrophy, 9 eyes of 5 patients (26.4%) macular atrophy, 6 eyes of 3 patients (17.6%) displayed posterior pole atrophy and in 6 eyes of 3 patients (17.6%), atrophy could be detected beyond the vascular arcades (mid-peripheral atrophy). End-stage atrophy covered the entire area indicated as \"coquille d\'oeuf\" (eggshell). Choroidal neovascularization occurred in 49 eyes of 26 patients (94.2%) with PD and in 6 eyes of 3 patients (60%) without PD. Genetic examinations were available for 29 patients (29/31, 93.5%).
CONCLUSIONS: The elderly PXE patients were characterized by pattern dystrophy-like changes with more or less extensive atrophy, progressive over time, which in some cases affected the whole area of the coquille d\'oeuf during the course of the disease.

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.