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Article

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.

Ophthalmic genetics - 1 Jun 2026

De-Pablo-Gómez-De-Liaño Beatriz, Moralejo-Vázquez Laura, Llorente-La-Orden Carlos, Vargas-Coronado Carlos, Estrada-Vásquez Nicolás, Jiménez-Rolando Marta, De-Pablo-Martín Carlos

Abstract excerpt

INTRODUCTION: We describe the phenotypic characteristics and genetic findings in two siblings with vitelliform macular dystrophy within the spectrum of bestrophinopathies caused by a previously unreported BEST1 variant. METHODS: A 53-year-old woman and her 47-year-old brother with long-standing reduced visual acuity and hyperopia underwent comprehensive ophthalmic examination, including fundus imaging, optical...

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Identifiers

PMID: 41813572
DOI: 10.1080/13816810.2026.2625879

Genes

BEST1

Variants

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