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Article

Pediatric presentation of enhanced S-cone syndrome associated with two heterozygous NR2E3 mutations.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2023

Gurskytė Viktorija, Kozlovskaja Irina, Makouskaja Anželika, Misevičė Aušrinė

Abstract excerpt

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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Identifiers

PMID: 37806489
DOI: 10.1016/j.jaapos.2023.08.010

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