Angioid streaks (AS) are the most common ocular manifestation in patients with pseudoxanthoma elasticum (PXE). The major cause of severe visual loss in patients with AS is choroidal neovascularization (CNV). We report the optical coherence tomography angiography (OCTA) findings of CNV in a patient with PXE and angioid streaks. A 51-year-old man with PXE presented with visual disturbance in his ...

EDITOR—Pseudoxanthoma elasticum (PXE, MIM 264800) is an inherited disorder of connective tissue in which the elastic fibres of the skin, eyes, and cardiovascular system slowly become calcified, causing a spectrum of disease involving these three organ systems, with highly variable phenotypic expression. 2 Mutations in the ABCC6 gene (previously known as MRP6), encoding a 1503 amino acid membran...

A 65-year-old male presented with right hemiparesis and skin lesions. On examination, the patient had multiple, discrete, skin-colored papules on the neck and upper chest with wrinkling of the skin. The lateral part of the trunk and medial aspect of both upper arms showed atrophic plaques. A computerized tomography scan of the head showed dilatation of the basilar artery with a frontoparietal i...