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Pseudoxanthoma elasticum is a multi-organ disease which usually develops in midlife—that is, at a time when the patient is still of working age. It is an hereditary disease involving the skin, gastrointestinal tract, cardiovascular system and eyes. A mutation in the ATP-binding cassette subtype C number 6 gene (ABCC6) on chromosome 16p13.1 is the cause, and encoding of this protein has an important role in extracellular calcium and calcium phosphate metabolism.1 Reports of pathological changes in the eyes associated with pseudoxanthoma elasticum by Deschweinitz date back to 1896.2
Angioid streaks, reticular macular dystrophy, optic nerve drusen and a “peau d’orange” appearance in the fundus can develop.3 The prognosis for visual acuity is closely related to whether chorioidal neovascularisation (CNV) ensues. Here, destructive calcification in Bruch’s membrane causes angioid streaks which, as seen by ophthalmoscopy, often spread around the optic disc like a star.
Frequency rates of 72–86% for developing CNV have been reported; presentation is also bilateral in a large number of patients.3 4 If left untreated, CNV progresses considerably. Clinically and angiographically, numerous isolated chorioidal membranes can be observed, ending with the development of a disciform scar, which ultimately dramatically worsens …
Competing interests: None declared.
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