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Case Reports
. 2021 Feb 18:22:101035.
doi: 10.1016/j.ajoc.2021.101035. eCollection 2021 Jun.

Pseudopapilledema in Cockayne syndrome

Michael C Brodsky  1   2 , Deborah L Renaud  2   3
Affiliations
Case Reports

Pseudopapilledema in Cockayne syndrome

Michael C Brodsky et al. Am J Ophthalmol Case Rep. .

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.

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Conflict of interest statement

The following authors have no financial disclosures: Michael C. Brodsky, and Deborah L. Renaud.

Figures

Fig. 1
Fig. 1
Lateral facial photos showing severe enophthalmos in case 1 (left) and case 2 (right).
Fig. 2
Fig. 2
Case 1. Top: Bilateral pseudopapilledema. Bottom left: T2-weighted axial MR image showing retrodisplacement and axial foreshortening of the globes with posterior scleral flattening and protrusion of the optic papilla (arrows) into the vitreous. (Normally, approximately ¾ of the globe volume lies anterior to the line connecting the lateral orbital rims on MR imaging). Bottom right: T2-weighted MR imaging showing bilateral periventricular white matter hyperintensity (arrows).
Fig. 3
Fig. 3
Case 2. Top: Bilateral pseudopapilledema similar to that seen in case 1. Bottom left: T2-weighted axial MR image showing retrodisplacement and axial foreshortening of the globes, and protrusion of the optic papilla (arrows) into the vitreous. Note vertical tortuosity of the optic nerves producing a kinked appearance with entrapment of perioptic CSF within the distal optic nerve sheaths. Bottom right: T2-weighted MR images showing bilateral periventricular white matter hyperintensity (arrows).
See this image and copyright information in PMC

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