Neuro-ophthalmic complications of endosteal hyperostosis, Worth type: the importance of ophthalmic monitoring.

Abstract

Disorders of bone formation or resorption affecting the cranium can lead to ophthalmic complications. We describe a family with Worth endosteal hyperostosis (WEH), an autosomal dominant condition characterized by mandibular overgrowth and cortical thickening of long bones. Although traditionally considered benign, we report significant neuro-ophthalmic complications in this kindred.This retrospective case series examines a two-generation family of three siblings and their mother, all with clinical features of WEH and a confirmed lipoprotein-related protein 5 (LRP5) gene mutation. A literature review is also included.The proband was diagnosed with WEH after an incidental finding of dense bones on a chest x-ray at age 16, with no neurological complications. However, her three affected children developed papilledema due to elevated intracranial pressure, requiring calvarial expansion. Computed tomography imaging revealed calvarial thickening and late-onset sagittal synostosis in two individuals. In two cases, intracranial hypertension was detected only after routine ophthalmic monitoring revealed papilledema. All had successful outcomes with resolution of papilledema following surgery.Here, we show that WEH can be associated with serious and late onset neuro-ophthalmic manifestations and secondary sagittal synostosis. We recommend regular ophthalmic review to facilitate early detection of potential complications, as part of the multidisciplinary care.