Tony Tsai, MD, FASRS » Autosomal Recessive Bestrinopathy

  • Autosomal Recessive Bestrophinopathy - Color Photo OD

    Dec 22 2017 by Tony Tsai, MD, FASRS

    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.

    Photographer: San Juanita Zazueta

    Imaging device: Topcon

    Condition/keywords: Best disease

  • Autosomal Recessive Bestrophinopathy - color photo OS

    Dec 22 2017 by Tony Tsai, MD, FASRS

    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.

    Photographer: San Juanita Zazueta

    Imaging device: Topcon

    Condition/keywords: Best disease

  • Autosomal Recessive Bestrophinopathy - OCT OS

    Dec 22 2017 by Tony Tsai, MD, FASRS

    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.

    Photographer: San Juanita Zazueta

    Imaging device: Heidelberg Spectralis

  • Autosomal Recessive Bestrophinopathy - OCT OD

    Dec 22 2017 by Tony Tsai, MD, FASRS

    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.

    Photographer: San Juanita Zazueta

    Imaging device: Heidelberg Spectralis

  • Autosomal Recessive Bestrophinopathy - FAF and angiography OS

    Dec 22 2017 by Tony Tsai, MD, FASRS

    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.

    Photographer: San Juanita Zazueta

    Imaging device: Heidelberg Spectralis

  • Autosomal Recessive Bestrophinopathy - FAF and Angiography OD

    Dec 22 2017 by Tony Tsai, MD, FASRS

    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.

    Photographer: San Juanita Zazueta

    Imaging device: Heidelberg Spectralis

  • Autosomal Recessive Bestrophinopathy - EOG

    Dec 22 2017 by Tony Tsai, MD, FASRS

    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.

    Photographer: San Juanita Zazueta