Autosomal Recessive Bestrophinopathy: Differential Diagnosis and Treatment Options

Objective: To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). Design: Retrospective case series. Participants: Ten patients with ARB from 7 different families. Methods: All patients underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, and fluorescein angiography (FA). In all probands, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (OCT), full-field electroretinography (ERG), electro-oculography (EOG), and Goldmann perimetry were performed. In selected patients, multifocal ERG was performed. Blood samples were obtained to analyze the BEST1 gene for biallelic mutations that confirmed the (Read more...)

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