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

Key Points

• To explore the phenotypic and genetic characteristics of a novel BEST1 variant in siblings.
• Case report of two siblings with atypical vitelliform macular dystrophy
• Genetic testing performed to identify mutations in BEST1 gene
• Phenotypic analysis conducted to assess macular dystrophy characteristics
• Identified a novel autosomal recessive variant of BEST1
• Expanded understanding of bestrophinopathy clinical spectrum
• Documented specific phenotypic traits associated with the variant