Pseudopapilledema in Cockayne syndrome

Michael C Brodsky; Deborah L Renaud

doi:10.1016/j.ajoc.2021.101035

Pseudopapilledema in Cockayne syndrome

Am J Ophthalmol Case Rep. 2021 Feb 18:22:101035. doi: 10.1016/j.ajoc.2021.101035. eCollection 2021 Jun.

Authors

Michael C Brodsky^{1

2}, Deborah L Renaud^{2

3}

Affiliations

¹ Department of Ophthalmology, Mayo Clinic, Rochester, MN, USA.
² Department of Neurology, Mayo Clinic, Rochester, MN, USA.
³ Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.

Abstract

Purpose: This report describes pseudopapilledema in two siblings with Cockayne syndrome and examines a structural mechanism for its development.

Observations: Two siblings with genetically documented Cockayne syndrome, enophthalmos, and hyperopia were found to have pseudopapilledema. Magnetic resonance (MR) imaging disclosed retrodisplacement of the globes, axial foreshortening, posterior scleral flattening, and protrusion of the optic papilla into the vitreous.

Conclusions and importance: In the setting of Cockayne syndrome, pseudopapilledema may arise from retrodisplacement of the globes causing indentation of the posterior sclera by the distal optic nerves. This anatomic aberration may contribute to the development of hyperopia as well.

Keywords: Cockayne syndrome; Enophthalmos; Pseudopapilledema.

Publication types

Case Reports