First genetic analysis of atypical phenotype of pseudoxanthoma elasticum with ocular manifestations in the absence of characteristic skin lesions

Abstract

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease, characterized by mineralization and degeneration of the elastic fibers in the skin, retina, and cardiovascular system.^1-4 PXE is caused by mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, but it remains unknown how these mutations lead to the clinical phenotype.^2-4 Although an association between mutations and phenotypes has been postulated, no definite correlation has been established.⁵ Patients with PXE usually exhibit typical skin lesions that are frequently the first diagnostic signs.^1,6,7

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