Hanna Choi » 27-Jun-2022

  • CERKL-related Cone Rod Dystrophy

    Jun 27 2022 by Hanna Choi

    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*).

    Photographer: Kaitlynn Silva, New England Retina Consultants

    Imaging device: Ultrawide-field Optos Fundus Photography, Autofluorescence, Fluorescein Angiography

    Condition/keywords: cone dystrophy, inherited retinal disease, maculopathy