Bestrophinopathy

01/01/2017 - "We set out to investigate the treatment outcome of trabeculectomy for secondary ACG in a group of patients with autosomal recessive bestrophinopathy (ARB). "
06/29/2022 - "It is rare for a patient to be diagnosed with branch retina vein occlusion (BRVO), angle-closure glaucoma (ACG) and autosomal recessive bestrophinopathy (ARB). "
07/09/2020 - "Autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutations in the BEST1 gene and always accompanied with refractory angle-closure glaucoma (ACG). "
12/01/2022 - "This study aimed to illustrate the efficacy of the combination of lens extraction, trabeculectomy, and anterior vitrectomy in patients with secondary angle-closure glaucoma (ACG) with autosomal recessive bestrophinopathy or Best vitelliform macular dystrophy. "

01/01/2020 - "Gene augmentation in iPSC-RPE fully restored BEST1 calcium-activated chloride channel activity and improved rhodopsin degradation in an iPSC-RPE model of recessive bestrophinopathy as well as in two models of dominant Best disease caused by different mutations in regions encoding ion-binding domains. "

01/01/2020 - "Gene augmentation in iPSC-RPE fully restored BEST1 calcium-activated chloride channel activity and improved rhodopsin degradation in an iPSC-RPE model of recessive bestrophinopathy as well as in two models of dominant Best disease caused by different mutations in regions encoding ion-binding domains. "

11/01/2023 - "This study aimed to evaluate the clinical and genetic characteristics of eight members from a Chinese Han family who displayed autosomal recessive bestrophinopathy (ARB)-like retinal changes in autosomal dominant (AD) inheritance pattern. "
06/01/2009 - "The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). "
12/16/2022 - "A clinical diagnosis of autosomal recessive bestrophinopathy was established based on ocular examination and multimodal retinal imaging. "
01/01/2020 - "Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. "
11/01/2018 - "We present a case that highlights the classic retinal findings of autosomal recessive bestrophinopathy with an emphasis on modern multimodal imaging. "

11/01/2020 - "Lastly, we tested if 4PBA and 2-NOAA could functionally rescue bestrophin 1 function in RPE generated from induced pluripotent stem cells (iPSC-RPEs) derived from patients with a dominant or recessive bestrophinopathy. "
01/01/2020 - "Bestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as bestrophinopathy. "
01/01/2020 - "Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy."
01/01/2019 - "To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed clinical diagnosis of autosomal recessive bestrophinopathy (ARB) and two showed a phenotype with a single vitelliform lesion, patients were subjected to standard ophthalmic examinations. "
07/01/2015 - "Mutations in BEST1, encoding bestrophin-1 (Best1), cause autosomal recessive bestrophinopathy (ARB). "

07/01/2015 - "Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation."
02/26/2020 - "Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (BEST1) gene affecting anion transport through the plasma membrane of the retinal pigment epithelium (RPE). "
01/01/2018 - "Autosomal recessive bestrophinopathy (ARB) is caused by mutations in the gene BEST1 which encodes bestrophin 1 (Best1), an anion channel expressed in retinal pigment epithelial (RPE) cells. "

12/08/2022 - "To report functional and anatomical outcomes of anti-VEGF treatment in eyes with autosomal recessive Bestrophinopathy (ARB) presenting in the first decade of life. "
01/01/2013 - "Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy."

03/13/2023 - "Biallelic variants usually cause a more severe phenotype including diffuse retinal pigment epithelial irregularity and widespread generalized progressive retinopathy, known as autosomal recessive bestrophinopathy (ARB). "
01/01/2018 - "Autosomal recessive bestrophinopathy (ARB) is caused by mutations in the gene BEST1 which encodes bestrophin 1 (Best1), an anion channel expressed in retinal pigment epithelial (RPE) cells. "

01/01/2018 - "Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two BEST1 mutations, one on each of the chromosomes. "
11/01/2016 - "Autosomal recessive bestrophinopathy (ARB) is a retinopathy caused by mutations in the bestrophin-1 protein, which is thought to function as a Ca2+-gated Cl- channel in the basolateral surface of the retinal pigment epithelium (RPE). "

12/08/2022 - "Anatomical and functional outcomes of bevacizumab treatment in pediatric autosomal recessive bestrophinopathy."
01/01/2015 - "Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy."

01/01/2017 - "We set out to investigate the treatment outcome of trabeculectomy for secondary ACG in a group of patients with autosomal recessive bestrophinopathy (ARB). "
12/01/2022 - "This study aimed to illustrate the efficacy of the combination of lens extraction, trabeculectomy, and anterior vitrectomy in patients with secondary angle-closure glaucoma (ACG) with autosomal recessive bestrophinopathy or Best vitelliform macular dystrophy. "

12/01/2022 - "This study aimed to illustrate the efficacy of the combination of lens extraction, trabeculectomy, and anterior vitrectomy in patients with secondary angle-closure glaucoma (ACG) with autosomal recessive bestrophinopathy or Best vitelliform macular dystrophy. "

12/01/2015 - "This mini-review will briefly highlight the suitability of the retina for gene and cell therapies, the pathophysiology of bestrophinopathy, and the research and treatment opportunities afforded by stem cell and genetic therapies. "
01/01/2020 - "This case report discusses a case of bilateral chorioretinal anastomoses in autosomal recessive bestrophinopathy (ARB) unresponsive to antivascular endothelial growth factor therapy and its associated optical coherence tomography angiography (OCTA) findings. "
12/01/2015 - "A retinal pigmented epithelial (RPE) disorder, bestrophinopathy has recently been proven to be amenable to gene and cell-based therapies in preclinical models. "
03/01/2014 - "Because of a relatively well preserved retinal function, autosomal recessive bestrophinopathy may be a suitable first candidate, among the BEST1-related ocular conditions, for gene replacement therapy."

01/01/2014 - "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 photography, optical coherence tomography, fundus autofluorescence, electro-oculography, and electroretinography. "