Pattern dystrophy-like changes and coquille d’oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum

Vittoria Murro, Dario Pasquale Mucciolo*, Dario Giorgio, Andrea Sodi, Federica Boraldi, Daniela Quaglino, Gianni Virgili, Fabrizio Giansanti

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1881-1892
Number of pages12
JournalGraefe's Archive for Clinical and Experimental Ophthalmology
Volume258
Early online date22 May 2020
DOIs
Publication statusPublished - 01 Sep 2020
Externally publishedYes

Bibliographical note

Funding Information:
The authors gratefully acknowledge the collaborative support of PXE Italia Onlus and the technical contribution of Sonia Costa

Publisher Copyright:
© 2020, Springer-Verlag GmbH Germany, part of Springer Nature.

Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.

Keywords

  • Angioid streak
  • Atrophy
  • Bruch’s membrane
  • Coquille d’oeuf
  • Elderly
  • OCT
  • PXE
  • Widefield imaging

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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