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BESTROPHINOPATHY

National Institutes of Health

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2 relations

Broader (2)

Eye Diseases, HereditaryRetinal Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy
Background Bestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as… 
2019
2019
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD… 
2019
2019
A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations
The availability and reduced cost of genotyping has improved gene susceptibility testing and our scientific understanding of… 
2018
2018
Bestrophinopathy Mimicking Central Serous Chorioretinopathy.
2017
2017
Ten-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… 
2017
2017
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance
ABSTRACT Introduction: Autosomal recessive bestrophinopathy (ARB) is a retinal disease caused by biallelic mutations of the BEST1… 
Review
2016
Review
2016
Bestrophinopathy: An RPE-photoreceptor interface disease
2016
2016
BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene
Purpose: To describe the variable ocular phenotype associated with a heterozygous mutation in the BEST1 gene. Methods: Clinical… 
2015
2015
Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy
Abstract Introduction: Bestrophinopathies result from mutations within the BEST1 gene; although multiple gene mutations have been… 
2014
2014
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
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