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.
- Cockayne syndrome
ASJC Scopus subject areas