Macular Pattern Dystrophy Associated with MELAS

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File number: 44605

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    • By Olivia Rainey
      Retina Specialists of Michigan
      Co-author(s): Liliya Sutherland, DO
    • Uploaded on Dec 19, 2019.
    • Last modified by Olivia Rainey on Apr 3, 2020.
    Rating
    Appears in
    Miscellaneous
    Condition/keywords
    pattern macular dystrophy, advanced geographic atrophy, fundus autofluorescence (FAF), wide angle imaging, Optos, bilateral, MELAS
    Photographer
    Olivia Rainey
    Imaging device
    Fundus camera
    Optos California
    Description
    Bilateral wide field fundus autofluorescence images of a 54-year-old female with macular pattern dystrophy associated with MELAS. The patient is positive for m.3243A>G in MT-TL1. She had stroke in her 40s, hearing loss in her 30s, and has early onset diabetes. MyRetinaTracker shows VUS in RP1L1. Mutation in RP1L1 have been describe in other families with occult macular dystrophy. Farnsworth D15 is showing mild tritan abnormality, which is most commonly seen with acquired maculopathies. 12/17/19 patient's Optos and OCT show mild progression of atrophy.

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