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Article

Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree

1 Oct 2021

Abstract excerpt

Objective Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is associated with pathogenic variants in BEST1, which typically causes visual impairment in the late stage of disease. We present a pedigree with variable expressivity and the youngest case in the literature with visual impairment in early childhood. Methods and analysis This is a retrospective, observational, case series describing...

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PMID: 34746433
DOI: 10.1136/bmjophth-2021-000813

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