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CERKL-related Cone Rod Dystrophy
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- Published 2022
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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Category: Inherited retinal diseases