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Article

Bilateral helicoid peri-papillary sub-retinal fibrosis due to a biallelic NR2E3 mutation: Describing variable expressivity of a mutation.

European journal of ophthalmology - 1 Nov 2024

Hassanpoor Narges, Ebrahimiadib Nazanin, Riazi-Esfahani Hamid, Moghaddasi Afrooz, Suri Fatemeh

Abstract excerpt

BACKGROUND: To describe different clinical presentations of a same NR2E3 recessive mutation in two families and within one family. DESIGN: Interventional family study. RESULTS: Our first case was a one-year-old male child with high hyperopia and refractive accommodative esotropia. In retinal examination, peri-papillary sub-retinal fibrosis with a helicoid configuration was observed in both eyes. The parents and...

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Identifiers

PMID: 38444285
DOI: 10.1177/11206721241234396

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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