Choroideremia

file Retina Image Bank

File number: 98736


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    • By Zach Seim
      Retina Specialists of Michigan
      Co-author(s): Liliya Shevchenko Sutherland DO
    • Uploaded on Sep 21, 2022.
    • Last modified by Joshua Friedman on Sep 22, 2022.
    Rating 1 rating
    Appears in
    Miscellaneous
    Condition/keywords
    Optos, ultra-wide field imaging, pseudocolor, hereditary choroidal atrophy, hereditary retinal dystrophy, choroideremia
    Photographer
    Zach Seim
    Imaging device
    Scanning laser ophthalmoscope
    Optos California
    Description
    Ultra-widefield fundus photo of a 74 year old male presenting with severe vision loss beginning at age 55. Patient sought a second opinion with our office and was diagnosed with Choroideremia. Patient denies hearing loss, heart problems, balance issues, polydactyly, kidney problems, and dental problems. Patient reports that nobody in the family had blindness. Choroideremia is an X-linked chorioretinal dystrophy characterized by the diffuse, progressive degeneration of the retinal pigment epithelium (RPE), photoreceptors and choriocapillaris. It is caused by a mutation in the CHM gene.

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