Gyrate Atrophy

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File number: 130237


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    • By Ricardo Leal Rodríguez, MD
      Instituto de Enfermedades y Cirugía Ocular
      Co-author(s): Dr Juan Carlos Zenteno Ruiz, Dra Valentina Martínez Montoya, Fundación Conde de Valenciana, Ciudad de México
    • Uploaded on Jan 25, 2024.
    • Last modified by Joshua Friedman on Jan 26, 2024.
    Rating
    Appears in
    25-Jan-2024
    Condition/keywords
    gyrate atrophy, inherited retinal disease
    Photographer
    Dr Ricardo Leal Rodríguez, Instituto de Enfermedades y Cirugía Ocular, IECO , Mérida Yucatán, México
    Imaging device
    Fundus camera
    Triton Plus (Ver 10.16) TOPCON
    Description
    Fundus photograph of an 11-year-old female with hyperornithinemia (932 µmol/L ) in plasma and mutation in the OAT gene (p.Asp242Argfs*6) confirming Gyrate Atrophy

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