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
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*).