What are the ophthalmic manifestations of this condition?
What is the genetic defect in this condition?
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Curly, frayed basophilic elastic fibres in reticular dermis. Encrusted with calcium
Pseudoxanthoma elasticum (PXE)
Angioid streaks, choroidal neovascular membranes (CRNVM +/- haemorrhage and disciform scarring), RPE atrophy, peau d’orange, choroidal ruptures and retinal haemorrhages (in cases of PXE with trauma), keratoconus
ABCC6 gene cause pseudoxanthoma elasticum. 300 distinct mutations identified in pseudoxanthoma elasticum. Mutations lead to an absent or non-functional MRP6 protein, an acronym for multidrug resistance-associated protein 6