Initializing download.-
By Tony Tsai, MD, FASRS
Retinal Consultants Medical Group
Co-author(s): David Telander, MD, PhD - Uploaded on Dec 22, 2017.
- Last modified by Chayal Patel on Feb 27, 2018.
- Image of the week
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Feb 25, 2018
View all images of the week - Rating
- Appears in
- Autosomal Recessive Bestrinopathy
- Condition/keywords
- Best disease
- Photographer
- San Juanita Zazueta
- Imaging device
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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.
