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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