Hereditary Retinal Dystrophy

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File number: 132855


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    Appears in
    Miscellaneous
    Condition/keywords
    hereditary retinal dystrophy, CHM gene, linear pigmentary changes
    Photographer
    Kimberly Wakester, COA
    Imaging device
    Fundus camera
    Optos California
    Description
    Optomap RGB image of a 7-year-old girl with Hereditary retinal dystrophy. Biological mother is a CHM gene carrier and biological father is diagnosed with RP. Patient had genetic testing and was also confirmed to be a CHM gene carrier and also has the TTC21B gene. There is linear pigmentary changes on clinical exam and fundus photos. Atypical appearance of Retinitis Pigmentosa. Patient will continue follow up care with repeat imaging.

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