Article
Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
Investigative ophthalmology & visual science - 1 Sept 2007
Audo Isabelle, Vanakker Olivier M, Smith Alaric, Leroy Bart P, Robson Anthony G, Jenkins Sharon A, Coucke Paul J, Bird Alan C, De Paepe Anne, Holder Graham E, Webster Andrew R
Abstract excerpt
PURPOSE: Pseudoxanthoma elasticum (PXE; [MIM 264800]) is an autosomal recessive systemic disorder characterized by progressive degeneration and calcification of elastic fibers in connective tissue. The phenotype is variable, with cutaneous, vascular, and ophthalmic abnormalities. The disorder is a consequence of mutations in the ABCC6 gene. Visual impairment is mainly due to neovascular complications, and retinal...
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