نتایج جستجو برای: angioid streaks

تعداد نتایج: 1797  

2013
Norman Saffra Benjamin Reinherz

Introduction: Pseudoxanthoma elasticum (PXE) is an inherited disease that affects multiple organs, including the skin, eyes, and cardiovascular system. Visual loss occurs at an early age secondary to choroidal neovascularization (CNV) resulting from angioid streaks (AS). Bevacizumab and ranibizumab, are anti-VEGF monoclonal antibodies, that have been shown to be successful treatment options for...

2013
Annerose Berndt Qiaoli Li Christopher S. Potter Yanhua Liang Kathleen A. Silva Victoria Kennedy Jouni Uitto John P. Sundberg

Pseudoxanthoma elasticum (PXE; OMIM#264800) is characterized by progressive, lateonset, ectopic mineralization of elastic fibers, clinically affecting skin, retina, and the cardiovascular system with considerable morbidity and occasional mortality (Neldner, 1988). It is an autosomal recessive disorder with a slight female preponderance and an estimated prevalence of ~1 in 50,000-70,000. The cli...

2016
Danuta M Sampson David Alonso-Caneiro Avenell L Chew Tina Lamey Terri McLaren John De Roach Fred K Chen

PURPOSE To present en face optical coherence tomography (OCT) images generated by graph-search theory algorithm-based custom software and examine correlation with other imaging modalities. METHODS En face OCT images derived from high density OCT volumetric scans of 3 healthy subjects and 4 patients using a custom algorithm (graph-search theory) and commercial software (Heidelberg Eye Explorer...

Journal: :American journal of human genetics 2012
Yvonne Nitschke Geneviève Baujat Ulrike Botschen Tanja Wittkampf Marcel du Moulin Jacqueline Stella Martine Le Merrer Geneviève Guest Karen Lambot Marie-Frederique Tazarourte-Pinturier Nicolas Chassaing Olivier Roche Ilse Feenstra Karen Loechner Charu Deshpande Samuel J Garber Rashmi Chikarmane Beat Steinmann Tatevik Shahinyan Loreto Martorell Justin Davies Wendy E Smith Stephen G Kahler Mignon McCulloch Elizabeth Wraige Lourdes Loidi Wolfgang Höhne Ludovic Martin Smaïl Hadj-Rabia Robert Terkeltaub Frank Rutsch

Spontaneous pathologic arterial calcifications in childhood can occur in generalized arterial calcification of infancy (GACI) or in pseudoxanthoma elasticum (PXE). GACI is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause PXE. However, the genetic basis in subsets of both disease phenotypes remains elusive. We hypothesized that ...

2013
Martin Gliem Julie De Zaeytijd Robert P. Finger Frank G. Holz Bart P. Leroy Peter Charbel Issa

Pseudoxanthoma elasticum (PXE) is an inherited multi-system disorder characterized by ectopic mineralization and fragmentation of elastic fibers in the skin, the elastic laminae of blood vessels and Bruch's membrane in the eye. Biallelic mutations in the ATP-binding cassette (ABC) transporter gene ABCC6 on chromosome 16 are responsible for the disease. The pathophysiology is incompletely unders...

2004
M Matsuoka M Matsumura

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...

2012
MI Eleftheriadou PG Theodossiadis A Rouvas D Alonistiotis GP Theodossiadis

Patients with beta-thalassemia may present with an acquired diffuse elastic tissue defect due to degeneration of elastic tissue along with vaso-occlusive findings in the retinal microvasculature. Here we report the case of a patient with granular-like accumulation presenting as black sunburst lesions detected by optical coherence tomography (OCT). A 38-year-old man with beta-thalassemia interme...

Journal: :Journal of Investigative Dermatology 2023

The majority of pseudoxanthoma elasticum (PXE) patients have a loss-of-function variant inABCC6 encoding membrane transport protein called ATP-binding cassette subfamily C member 6. Systemic complications in the eyes, cardiovascular system, and gastrointestinal tract are important prognostic factors. Retinitis pigmentosa (RP) is genetically heterogeneous retinopathy that shows progressive retin...

2017
Jung Yeob Han Chong Eun Lee Yu Cheol Kim

Dear Editor, Pseudoxanthoma elasticum (PXE), also known as Gröenblad-Strandberg syndrome, is an inherited multi-systemic disorder characterized by progressive mineralization and fragmentation of elastic fibers in various organs including the skin, eyes, and vascular system. The reported ocular manifestations of PXE include optic nerve drusen, angioid streaks, large regions of retinal pigment ep...

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