Characterisation of microvascular abnormalities using OCT angiography in patients with biallelic variants in USH2A and MYO7A
نویسندگان
چکیده
منابع مشابه
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome
PURPOSE To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). METHODS Thirty-six Italian patients with a diagnosis of USH were recruited. They received a standard ophthalmologic examination, visual field testing, optical coherence tomography (OCT) scan, and electrophysiological tests. Fluorescein angiography ...
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.
Novel mutations in MYO7A and USH2A in Usher syndrome.
PURPOSE Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. Three clinical types (USH1, USH2, USH3) and 11 mutated genes or loci have been described. Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. These genes were screened in a series of patients suffering from Usher syndr...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 2019
ISSN: 0007-1161,1468-2079
DOI: 10.1136/bjophthalmol-2019-314243