Purpose: To evaluate the retinal features of elderly patients affected by pseudoxanthoma elasticum (PXE). Materials and 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.
|Number of pages||12|
|Journal||Graefe's Archive for Clinical and Experimental Ophthalmology|
|Early online date||22 May 2020|
|Publication status||Published - 01 Sep 2020|
Bibliographical noteFunding Information:
The authors gratefully acknowledge the collaborative support of PXE Italia Onlus and the technical contribution of Sonia Costa
© 2020, Springer-Verlag GmbH Germany, part of Springer Nature.
Copyright 2020 Elsevier B.V., All rights reserved.
- Angioid streak
- Bruch’s membrane
- Coquille d’oeuf
- Widefield imaging
ASJC Scopus subject areas
- Sensory Systems
- Cellular and Molecular Neuroscience