A NovelBEST1Mutation 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 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 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 کاملTen-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy
Herein, we report the case of an 8-year-old girl who presented in December 2000 with a submacular neovascular membrane in the right eye, with a clinical diagnosis of Best disease. At that time, she underwent pars plana vitrectomy (PPV) with removal of the subretinal choroidal neovascularization (CNV). Her vision improved from 20/200 to 20/25. Four years later, a new CNV developed in the other e...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2015
ISSN: 1552-5783
DOI: 10.1167/iovs.15-18168