ABCC6 Gene Analysis in 20 Japanese Patients with Angioid Streaks Revealing Four Frequent and Two Novel Variants and Pseudodominant Inheritance
نویسندگان
چکیده
منابع مشابه
ABCC6 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 کاملABCC6 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 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 کاملthe past hospitalization and its association with suicide attempts and ideation in patients with mdd and comparison with bmd (depressed type) group
چکیده ندارد.
Angioid 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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Ophthalmology
سال: 2017
ISSN: 2090-004X,2090-0058
DOI: 10.1155/2017/1079687