Articles with "poc1b gene" as a keyword



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Seroreactivity against retinal proteins in a case of POC1B gene associated cone dystrophy with normal funduscopic appearance: a systematic approach to diagnosis.

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Published in 2022 at "Ophthalmic genetics"

DOI: 10.1080/13816810.2022.2121842

Abstract: PURPOSE To report a case of cone dystrophy, associated with autosomal recessive homozygote POC1B gene variant, mimicking autoimmune retinopathy. CASE A 45-year-old female presented with a complaint of decreased vision in both eyes. Her best… read more here.

Keywords: dystrophy; poc1b gene; diagnosis; cone dystrophy ... See more keywords