Autosomal Recessive Bestrophinopathy - FAF and angiography OS

File number: 27675

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By Tony Tsai, MD, FASRS
Retinal Consultants Medical Group
Co-author(s): David Telander, MD, PhD
Uploaded on Dec 22, 2017.
Last modified by Caroline Bozell on Mar 27, 2018.

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Appears in: Autosomal Recessive Bestrinopathy
Photographer: San Juanita Zazueta
Imaging device: Fundus camera
Heidelberg Spectralis
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.