NEW BEST1 MUTATIONS IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY
نویسندگان
چکیده
منابع مشابه
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
PURPOSE To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence ima...
متن کاملScreening for BEST1 gene mutations in Chinese patients with bestrophinopathy
PURPOSE The purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe the clinical features of these patients. METHODS Thirteen patients from 12 unrelated Chinese families affected by bestrophinopathy were recruited and clinically evaluated with best-corrected visual acuity examination, slit-lamp biomicroscopy, fundus examination and p...
متن کاملA synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1
PURPOSE Autosomal recessive bestrophinopathy (ARB) is a newly defined retinal dystrophy caused by biallelic mutations in bestrophin-1 (BEST1) and is hypothesized to represent the null bestrophin-1 phenotype in humans. The aim was to determine whether a synonymous BEST1 variant, c.102C>T, identified in two unrelated ARB patients, alters pre-mRNA splicing of the gene. Additionally a detailed phen...
متن کاملFunctional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
PURPOSE Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy affecting macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on bestrophin-1's chloride conductance, cellular local...
متن کاملAssessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3)
PURPOSE Mutations in bestrophin 1 (BEST1) are associated with a group of retinal disorders known as bestrophinopathies in man and canine multifocal retinopathies (cmr) in the dog. To date, the dog is the only large animal model suitable for the complex characterization and in-depth studies of Best-related disorders. In the first report of cmr, the disease was described in a group of mastiff-rel...
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ژورنال
عنوان ژورنال: Retina
سال: 2015
ISSN: 0275-004X
DOI: 10.1097/iae.0000000000000387