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Adult;; Child;; Chloride Channels/*genetics;; DNA Mutational Analysis;; Electrooculography;; Electroretinography;; Eye Diseases
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Full-Text Articles in Ophthalmology
New Best1 Mutations In Autosomal Recessive Bestrophinopathy, A. T. Fung, S. Yzer, N. Goldberg, H. Wang, M. Nissen, A. Giovannini, J. E. Merriam, E. N. Bukanova, L. A. Yannuzzi, R. Allikmets, +2 Additional Authors
New Best1 Mutations In Autosomal Recessive Bestrophinopathy, A. T. Fung, S. Yzer, N. Goldberg, H. Wang, M. Nissen, A. Giovannini, J. E. Merriam, E. N. Bukanova, L. A. Yannuzzi, R. Allikmets, +2 Additional Authors
Journal Articles
PURPOSE: To report the ocular phenotype in patients with autosomal recessive bestrophinopathy and carriers, and to describe novel BEST1 mutations. METHODS: Patients with clinically suspected and subsequently genetically proven autosomal recessive bestrophinopathy underwent full ophthalmic examination and investigation with fundus autofluorescence imaging, spectral domain optical coherence tomography, electroretinography, and electrooculography. Mutation analysis of the BEST1 gene was performed through direct Sanger sequencing. RESULTS: Five affected patients from four families were identified. Mean age was 16 years (range, 6-42 years). All affected patients presented with reduced visual acuity and bilateral, hyperautofluorescent subretinal yellowish deposits within the posterior pole. Spectral domain optical …