Optic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch's Membrane Calcification

Kristin Raming; Sandrine H Künzel; Maximilian Pfau; Doris Hendig; Frank G Holz; Kristina Pfau

doi:10.3390/jcm13123395

Optic Disc Drusen in Pseudoxanthoma Elasticum Are Associated with the Extent of Bruch's Membrane Calcification

J Clin Med. 2024 Jun 10;13(12):3395. doi: 10.3390/jcm13123395.

Authors

Kristin Raming¹, Sandrine H Künzel¹, Maximilian Pfau^{2

3}, Doris Hendig⁴, Frank G Holz¹, Kristina Pfau^{1

2}

Affiliations

¹ Department of Ophthalmology, University of Bonn, 53127 Bonn, Germany.
² Department of Ophthalmology, University of Basel, 4031 Basel, Switzerland.
³ Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland.
⁴ Institute for Laboratory and Transfusion Medicine, Heart and Diabetes, Center North Rhine-Westphalia, University Hospital of the Ruhr University of Bochum, 32545 Bad Oeynhausen, Germany.

Abstract

Background/Objectives: To assess the frequency, extent, localization and potential progression of optic disc drusen (ODD) and the correlation with the angioid streak (AS) length and retinal atrophy in patients with pseudoxanthoma elasticum (PXE). Methods: This retrospective study included patient data from a dedicated PXE clinic at the Department of Ophthalmology, University of Bonn, Germany (observation period from February 2008 to July 2023). Two readers evaluated the presence, localization, and the extent of the ODD on fundus autofluorescence (FAF) imaging at baseline and the follow-up assessments. Additionally, we measured the length of the longest AS visible at baseline and follow-up and the area of atrophy at baseline, both on FAF. Results: A total of 150 eyes of 75 PXE patients (median age at baseline 51.8 years, IRQ 46.3; 57.5 years, 49 female) underwent retrospective analysis. At baseline, 23 of 75 patients exhibited ODD in a minimum of one eye, resulting in an ODD prevalence of 30.7% in our cohort of PXE patients. Among these, 14 patients showed monocular and 9 binocular ODD that were localized predominantly nasally (46.9%). During the observational period (mean 97.5 ± 44.7 months), only one patient developed de novo ODD in one eye and one other patient showed a progression in the size of the existing ODD. The group of patients with ODD had significantly longer ASs (median 7020 µm, IQR 4604; 9183, vs. AS length without ODD: median 4404 µm, IQR 3512; 5965, p < 0.001). No association with the size of the atrophy was found at baseline (p = 0.27). Conclusions: This study demonstrates a prevalence of ODD of 30.7%. ODD presence is associated with longer ASs (an indicator of the severity and extent of ocular Bruch's membrane calcification), suggesting that ODD formation is tightly related to ectopic calcification-possibly secondary to calcification of the lamina cribrosa. Prospective studies investigating the impact of ODD (in conjunction with intraocular pressure) on visual function in PXE warrant consideration.

Keywords: Bruch’s membrane; PXE; angioid streaks; optic disc drusen; pseudoxanthoma elasticum.

Grants and funding

This research was supported by the German Research Foundation (DFG), with a grant to K.P. (project number 532367710), the German Patient Organization for Pseudoxanthoma elasticum (‘PXE Selbsthilfegruppe Deutschlands e.V.). A travel grant (Argelander Program for Early-Career Researchers—Reaching for the Stars University of Bonn) was awarded to K.R. for the presentation of this study at the ARVO Annual Meeting 2024.