An atypical presentation of pseudoxanthoma elasticum (PXE) without angioid streaks or peau d’orange
DOI:
https://doi.org/10.16964/er.v4i1.60Keywords:
pseudoxanthoma elasticum, Gronblad-Stranberg syndrome, ABCC6, MRP6, optic disc drusen, angioid streaks, peau d'orange, elastin, elastic fibers, Bruch, Bruch's membrane, autofluorescenceAbstract
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.
References
Gliem M, Zaeytijd JD, Finger RP, et al. An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet 2013; 4:14, 1-13.
Spaide RF. Peau d’range and angioid streaks: Manifestations of Bruch membrane pathology. Retina 2015; 35: 392-7.
Sawa M, Ober MD, Freund KB, Spaide RF. Fundus autofluorescence in patients with pseudoxanthoma elasticum. Ophthalmology 2006; 113(5): 814-20.
Finger RP, Charbel Issa P, Ladewig M, et al. Fundus autofluoresence in pseudoxanthoma elasticum. Retina 2009; 29(10): 1496-505.
Pierro L, Brancato R, Minicucci M, Pece A. Echographic diagnosis of drusen of the optic nerve head in patients with angioid streaks. Ophthalmologica 1994; 208(5): 239-42.
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- Figure 1. Wide angle colour fundus photograph of the right eye. Optic nerve head drusen are clearly visible. Multiple small white dots are apparent in the posterior pole and extendto the mid periphery with abnormal intervening retinal pigmentation.
- Figure 2. 55 Degree fundus autofluorescence image of the right eye centered on the macula. Hyper-reflective areas on the optic nerve head are seen, as consistent with optic disc drusen. Normal macular autofluorescence is apparent.
- Figure 3a. Low magnification histopathology slide with Elastic van Geeson stain showing irregular and degenerated elastic fibers within the dermis.
- Figure 3b. Low magnification histopathology slide with Von Kossa (calcium) stain showing calcium deposition within degenerated elastic fibers of the dermis.
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