Papilledema in the setting of x-linked hypophosphatemic rickets with craniosynostosis.

PURPOSE: INTRODUCTION TO THE OPHTHALMIC LITERATURE OF AN UNUSUAL CAUSE OF PAPILLEDEMA AND SUBSEQUENT OPTIC ATROPHY: X-linked hypophosphatemic rickets (XLH).

METHODS

Case report of a 3-year-old female presenting with papilledema resulting from craniosynostosis secondary to XLH.

RESULTS

Early intervention with craniofacial surgery prevented the development of optic atrophy.

CONCLUSION

Children with XLH should be screened for ophthalmic evidence of elevated intracranial pressure to aid early intervention and prevention of permanent loss of vision.