Best Macular Dystrophy

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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
    Best disease
    Photographer
    Galit Yair-Pur
    Imaging device
    Fundus camera
    Description
    A 38-year-old male patient with complaints of central vision decrease – for 10 years. Fundus: macular atrophic changes, yellowish macular deposits with a paracentral macular yellow ring. Genetics: A heterozygous mutation in Best1 gene - c.874G>A ; p.E292K was found, confirming the diagnosis of Best macular dystrophy.

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