Abstract
Pseudoxanthoma Elasticum (PXE) is an inherited multi-system disorder with potentially fatal complications. Biallelic mutations in the ABCC6 gene, which encodes an ATP-binding cassette transporter, have been identified to underlie this disease. Patients with pseudoxanthoma elasticum (PXE) classically have angioid streaks and peau d’orange. In this report, we present the case of a 9-year-old girl with histologically confirmed PXE, who did not have either angioid streaks or peau d’orange in either eye. Her only ophthalmic finding was the presence of bilateral optic disc drusen. This atypical presentation of PXE highlights that the presence of optic disc drusen in the absence of other signs should alert the physician to consider PXE.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
