Article

Total Retinal Detachment Combined with a Novel Nonsense Mutation in the COL2A1 Gene: A Case Report

2023-09-13

Abstract excerpt

<h4>Purpose: </h4> This study reports a novel nonsense mutation in a family with Stickler syndrome. Methods A 20-year-old female patient presented to the Ophthalmology Department of the Affiliated Hospital of Southwest Medical University with a 360° giant retinal tear. In addition to ocular damage (high myopia, cataracts, and retinal detachment), the patient had distinctive facial features, including midface hypo...

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Literature Corpus work: d81cc489-6018-5ce3-9461-c3ccc12fa2e5
DOI: 10.21203/rs.3.rs-3324738/v1

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