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  • Title: Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.
    Author: Gurskytė V, Kozlovskaja I, Makouskaja A, Misevičė A.
    Journal: J AAPOS; 2023 Dec; 27(6):363-366. PubMed ID: 37806489.
    Abstract:
    We report the case of an otherwise healthy 10-year-old girl referred to our institution for gradually decreasing vision and nyctalopia. Based on clinical examination, she was diagnosed with inherited retinal dystrophy, presumably due to enhanced S-cone syndrome (ESCS). Subsequent genetic testing confirmed a rare combination of NR2E3 heterozygous mutations: c.119-2A>C and c.932G>A p.(Arg311Gln).
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