Article

Bilateral Helicoid Peri-papillary Sub-retinal Fibrosis Due to a Biallelic NR2E3 Mutation: Describing Variable Expressivity of a Single Genetic Mutation

2021-09-07

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>To describe different clinical presentations of <italic>NR2E3</italic> (nuclear receptor subfamily 2, group E, member 3; OMIM 604485) recessive mutation in two families and within one family. <bold>Design</bold>: Interventional family study. <bold>Results: </bold>Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotro...

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Literature Corpus work: 1e2a21ae-5d54-5829-8652-9f01e9d86a6e
DOI: 10.21203/rs.3.rs-871644/v1

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