Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene – Accepted Manuscript

Abstract: Purpose: To investigate the genetic cause and perform a comprehensive clinical analysis of a Danish family with autosomal recessive bestrophinopathy. To investigate whether Bestrophin may be expressed in normal human retina.Design: Retrospective clinical and molecular genetic analysis and immunohistochemical observational study.Methods: Setting: National referral center.Participants: A family with five individuals and biallelic BEST1 mutations, and enucleated eyes from two individuals with non-affected r.Observation procedures: Molecular genetic analysis included sequencing of BEST1 and cosegregation analysis. Clinical investigations included electro-oculography, full-field electroretinography, multifocal electroretinography, spectral domain optical coherence tomography and fundus autofluorescence imaging. Immunohistochemical analysis was performed.Main Outcome Measures: BEST1 mutations, (Read more...)

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