Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene
نویسندگان
چکیده
منابع مشابه
ABCC6 Mutation in Patients with Angioid Streaks
Angioid streaks (AS) are hereditary eye conditions caused by breaks in the elastic layer of Bruch's membrane. Patients with AS are also frequently affected with pseudoxanthoma elasticum (PXE). The locus of PXE has been reported to exist in chromosome 16p13.1, and the ABCC6 gene in this locus has been identified as the causal gene of PXE. In this study we investigated the association of the ABCC...
متن کاملAngioid streaks in Jamaican patients with homozygous sickle cell disease.
Angioid streaks were observed in 21 of 242 patients with homozygous sickle cell disease. Two morphological types were observed. There is no evidence that angioid streaks in Jamaican patients are related to pseudoxanthoma elasticum.
متن کاملABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance
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...
متن کاملAngioid streaks and elastorrhexis.
ANGIOID streaks are thought to be due to breaks in the elastic lamina of Bruch's membrane. Ophthalmoscopically they present a jagged peripapillary ring which may be incomplete and from which radiate irregular spokes of width similar to retinal vessels. With time, they may progress, or become less distinct. Their colour varies from reddish-brown to dark brown according to the density of the over...
متن کاملAngioid Streaks in Psuedoxanthoma Elasticum
Pseudoxanthoma elasticum (PXE) is a hereditary disorder that affects primarily the elastic tissues of skin, eyes and blood vessels. Its estimated prevalence is thought to be 1:25,000 100,000. PXE patients also carry an increased risk for cardiovascular and gastrointestinal diseases. Early diagnosis can play a crucial role in preventing early loss of vision and systemic complications in these pa...
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ژورنال
عنوان ژورنال: Eye
سال: 2012
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.2011.344