CERKL-related Cone Rod Dystrophy

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File number: 95613


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    • By Hanna Choi
      Co-author(s): Hanna Choi, BS, New England Retina Consultants; Shilpa Gulati, MD, New England Retina Consultants
    • Uploaded on Jun 27, 2022.
    • Last modified by Joshua Friedman on Dec 1, 2022.
    Image of the week
    Dec 4, 2022
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    Appears in
    cone dystrophy, maculopathy, inherited retinal disease
    Kaitlynn Silva, New England Retina Consultants
    Imaging device
    Fundus camera
    Ultrawide-field Optos Fundus Photography, Autofluorescence, Fluorescein Angiography
    37-year-old female with cone-rod dystrophy. Developed photophobia and progressive blurry vision in the third decade. VA 20/40 OD, 20/30 OS. The patient is compound heterozygous for pathogenic mutations in the CERKL gene (Arg465Trp and Arg283*).

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