Autosomal Recessive Bestrophinopathy - Color Photo OD

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    • By Tony Tsai, MD
      Retinal Consultants
      Co-author(s): David Telander, MD, PhD
    • Uploaded on Dec 22, 2017.
    • Last modified by Chayal Patel on Feb 27, 2018.
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    Feb 25, 2018
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    Autosomal Recessive Bestrinopathy
    Condition/keywords
    Best disease
    Photographer
    San Juanita Zazueta
    Imaging device
    Fundus camera
    Topcon
    Description
    11-year-old Asian male with 20/40 vision OU, negative family history for ocular conditions, and bilateral atypical vitelliform deposits and subretinal fluid. EOG confirmed abnormally low Arden ratios OU. Genetic testing revealed homozygous recessive mutation in BEST1 gene (p.L140V:c.418C>G). Also known as p.L80V; Ref: Davidson (2009) Am J Hum Genet 85, 581.

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