An atypical presentation of pseudoxanthoma elasticum (PXE) without angioid streaks or peau d’orange

Choi Mun Chan, Amer Omar, Maria Pefkianaki, Ranjan Rajendram, David Paige, Rino Cerio, Michel Michaelides



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.


pseudoxanthoma elasticum, Gronblad-Stranberg syndrome, ABCC6, MRP6, optic disc drusen, angioid streaks, peau d'orange, elastin, elastic fibers, Bruch, Bruch's membrane, autofluorescence


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