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MIDPERIPHERAL RETINAL THICKENING ON WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH A MUTATION IN THE NR2E3 GENE.

Retinal cases & brief reports - 1 Sept 2025

Pott Jan Willem R, Huiskamp E Angela, Verheij Joke B G M

Abstract excerpt

PURPOSE: To report typical retinal findings in a girl with the presumed diagnosis of enhanced S-cone syndrome, attributed to the presence of a homozygous likely pathogenic variation in the NR2E3 gene. METHODS: A retrospective case report with multimodal imaging studies. RESULTS: Widefield OCT examination at the age of 11 showed increased thickening of the midperipheral retina. In the area of retinal thickening,...

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Source

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Identifiers

PMID: 41995403
DOI: 10.1097/ICB.0000000000001615
PMCID: PMC12382738

Genes

NR2E3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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