Fundus Albipunctata

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File number: 26880

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    • By Elad Moisseiev, MD
      Meir Medical Center
      Co-author(s): Hadas Newman, Tel Aviv Medical Center
    • Uploaded on Dec 27, 2016.
    • Last modified by Caroline Bozell on Jan 3, 2017.
    Rating
    Appears in
    Miscellaneous
    Condition/keywords
    fundus albipunctatus
    Photographer
    Galit Yair-Pur
    Imaging device
    Fundus camera
    Description
    A 53-year-old female patient with high myopia and complaints of stationary night blindness since childhood. Fundus: myopic fundus with yellow dots in the posterior pole. Genetics: Homozygous mutations in RDH5 gene - c.160C>T (p.R54X), confirming the diagnosis of fundus albipunctata.

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