PURPOSE To report the spectrum of ABCC6 variants in Japanese patients with angioid streaks (AS). PATIENTS AND METHODS This was a single-center cohort study. The medical records of 20 patients with AS from 18 unrelated Japanese families were retrospectively reviewed. Screening of the ABCC6 gene (exons 1 to 31) was performed using PCR-based Sanger sequencing. RESULTS Eight ABCC6 variants were...

BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional protein leads to ectopic mineralization that most apparent elastic tissues skin, eyes, and blood vessels. Dermatologic manifestations consist small yellow papules on nape sides neck flexural areas coalesce into reticu...

PURPOSE Angioid streaks (AS) are dehiscences in Bruch's membrane that may be idiopathic or associated with numerous systemic illnesses. Polypoidal choroidal vasculopathy (PCV) is an underdiagnosed exudative chorioretinopathy often characterised by serosanguineous detachments of the pigmented epithelium. The use of the anti-VEGF agents ranibizumab and aflibercept in the management of PCV seconda...

AIMS To determine whether pigment epithelium derived factor (PEDF), a protein that inhibits angiogenesis, is expressed in human choroidal neovascular membranes (CNVMs) and in tissues from an eye with polypoidal choroidal vasculopathy (PCV). In addition, to compare the expression of PEDF with that of vascular endothelial growth factor (VEGF), a known stimulator of angiogenesis, in these tissues....

PURPOSE To report the long-term results of intravitreal bevacizumab (Avastin) therapy for choroidal neovascularization (CNV) secondary to non-age-related macular degeneration (non-AMD). METHODS This prospective interventional case series was conducted on patients with non-AMD CNV. All patients received 1.25 mg intravitreal bevacizumab and were followed for at least 18 weeks. Indications for r...

PURPOSE To elucidate the potential role of angiopoietins and the Tie2 system in choroidal neovascularization. METHODS Surgically excised choroidal neovascular membranes (CNVMs) were obtained at vitrectomy from five eyes with age-related macular degeneration, three eyes with idiopathic neovascular maculopathy, and two eyes had degenerative myopia and two eyes had angioid streaks. Light microsc...