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Article

Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.

European journal of ophthalmology - 1 Sept 2022

Soto-Sierra Marina, Morillo-Sánchez María José, Martín-Sánchez Marta, Ramos-Jiménez Manuel, López-Domínguez Mireia, Ponte-Zuñiga Beatriz, Antiñolo Guillermo, Rodríguez-de-la-Rúa Enrique

Abstract excerpt

PURPOSE: To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB). METHODS: The detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing...

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PMID: 33866859
DOI: 10.1177/11206721211010615

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