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By Tony Tsai, MD, FASRS
Retinal Consultants Medical Group - Uploaded on Dec 22, 2017.
- Last modified by Caroline Bozell on Mar 27, 2018.
- Rating
- Appears in
- Autosomal Recessive Bestrinopathy
- Photographer
- San Juanita Zazueta
- Imaging device
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Optical coherence tomography system
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.
