Genotype–phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A : implications for future clinical trials
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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 کاملNovel 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...
متن کاملKCNE1 and KCNE2 variants in Patients with Long QT Syndrome
Introduction: Long QT syndrome (LQTS) is a type of ventricular arrhythmia characterized by prolonged QT intervals on electrocardiogram or delay in ventricular repolarization and it can lead to syncope, seizure and sudden cardiac death. Here, KCNE1 and KCNE2 variants are studied among Iranian affected families with this syndrome. Materials and Methods: Fifty patients referring to Rajaei Cardiov...
متن کاملDisease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.
PURPOSE To study retinal microstructure in Usher Syndrome type 1B (USH1B) caused by MYO7A mutations as a prelude to treatment initiatives. METHODS Patients with MYO7A-USH1B (n=17; ages 5-61) were studied with optical coherence tomography. Retinal laminae across horizontal and vertical meridians were measured. Colocalized visual sensitivity was measured with automated perimetry to enable compa...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2021
ISSN: 1755-375X,1755-3768
DOI: 10.1111/aos.14795